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	IsMicroSat	NumberOfSatRepeats	IsAdjacentToRepeatRegion	site	is_in_m2pon
TAS2R43	259289	broad.mit.edu	37	12	11244067	11244068	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr12:11244067_11244068insTT	ENST00000531678.1	-	1	844_845	c.761_762insAA	c.(760-762)agtfs	p.S254fs	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	254					detection of chemical stimulus involved in sensory perception of bitter taste	cilium membrane|motile cilium	bitter taste receptor activity			endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		TGTTTTCCAGACTTCCAAAACT	0.396		NA											False	0	False	12:11244067	0
SPPL3	121665	broad.mit.edu	37	12	121221520	121221522	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	GGA	GGA	-	-	GGA	GGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr12:121221520_121221522delGGA	ENST00000353487.2	-	5	847_849	c.344_346delTCC	c.(343-348)ctcccg>ccg	p.L115del		NM_139015.4	NP_620584.2	Q8TCT6	PSL4_HUMAN	signal peptide peptidase like 3	116						integral to membrane	aspartic-type endopeptidase activity				NA	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGGCACATCGGGAGGAGAAGAAA	0.325		NA											False	2	True	12:121221520	0
SKA3	221150	broad.mit.edu	37	13	21746643	21746644	+	Splice_Site	INS	-	-	CG			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr13:21746643_21746644insCG	ENST00000400018.3	-	3	235	c.166_166insCG	c.(166-168)gat>CGgat	p.D56fs	SKA3_ENST00000314759.5_Splice_Site_p.D56fs	NM_001166017.1	NP_001159489.1	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	56					cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TTAACATCATCCTTTTATGAAT	0.252		NA											False	0	True	13:21746643	0
NCOA3	8202	broad.mit.edu	37	20	46279864	46279866	+	In_Frame_Del	DEL	CAA	CAA	-	rs112129664	byFrequency	TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	CAA	CAA	-	-	CAA	CAA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr20:46279864_46279866delCAA	ENST00000372004.3	+	20	3994_3996	c.3778_3780delCAA	c.(3778-3780)caadel	p.Q1272del	NCOA3_ENST00000341724.6_In_Frame_Del_p.Q1202del|NCOA3_ENST00000371997.3_In_Frame_Del_p.Q1267del|NCOA3_ENST00000371998.3_In_Frame_Del_p.Q1276del	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1276	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						gcagcagcagcaacagcaacagc	0.567		NA											False	1	True	20:46279864	0
RBMX	27316	broad.mit.edu	37	X	135958816	135958817	+	Splice_Site	DEL	TG	TG	-			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chrX:135958816_135958817delTG	ENST00000562646.1	-	5	543		c.e5-2		RBMX_ENST00000570135.1_Splice_Site|RBMX_ENST00000565438.1_Splice_Site|RBMX_ENST00000431446.3_Intron|RBMX_ENST00000320676.7_Splice_Site			P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked	NA						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CACCGTCATCTGCATCAAAAAT	0.396		NA											False	1	False	X:135958816	0
JMY	133746	broad.mit.edu	37	5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534		NA											False	1	False	5:78610444	0
CANX	821	broad.mit.edu	37	5	179151711	179151728	+	In_Frame_Del	DEL	GAAGGAAGAGGAAGAAGA	GAAGGAAGAGGAAGAAGA	-			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	GAAGGAAGAGGAAGAAGA	GAAGGAAGAGGAAGAAGA	-	-	GAAGGAAGAGGAAGAAGA	GAAGGAAGAGGAAGAAGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr5:179151711_179151728delGAAGGAAGAGGAAGAAGA	ENST00000247461.4	+	13	1772_1789	c.1572_1589delGAAGGAAGAGGAAGAAGA	c.(1570-1590)gtgaaggaagaggaagaagag>gtg	p.KEEEEE525del	CANX_ENST00000415618.2_In_Frame_Del_p.KEEEEE560del|CANX_ENST00000504734.1_In_Frame_Del_p.KEEEEE525del|CANX_ENST00000512607.2_In_Frame_Del_p.KEEEEE417del|CANX_ENST00000452673.2_In_Frame_Del_p.KEEEEE525del	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	525					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	AACCGGATGTGAaggaagaggaagaagagaaggaagag	0.413		NA											False	1	True	5:179151711	0
FOXQ1	94234	broad.mit.edu	37	6	1313512	1313526	+	In_Frame_Del	DEL	CAACTACTGGATGCT	CAACTACTGGATGCT	-	rs112141050		TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	CAACTACTGGATGCT	CAACTACTGGATGCT	-	-	CAACTACTGGATGCT	CAACTACTGGATGCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr6:1313512_1313526delCAACTACTGGATGCT	ENST00000296839.2	+	1	838_852	c.573_587delCAACTACTGGATGCT	c.(571-588)gacaactactggatgctc>gac	p.NYWML192del		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	192					DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		GGGGCAAGGACAACTACTGGATGCTCAACCCCAAC	0.707		NA											False	1	False	6:1313512	0
PABPC1	26986	broad.mit.edu	37	8	101719035	101719036	+	Splice_Site	DEL	TA	TA	-			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	TA	TA	-	-	TA	TA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr8:101719035_101719036delTA	ENST00000318607.5	-	11	2576		c.e11-2		PABPC1_ENST00000522387.1_Splice_Site|PABPC1_ENST00000519596.1_Intron|PABPC1_ENST00000519004.1_Splice_Site	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	NA					mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			ATGTGTTAGCTAAAAAATAAGA	0.426		NA											False	1	True	8:101719035	0
ZFHX4	79776	broad.mit.edu	37	8	77617904	77617904	+	Silent	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr8:77617904G>A	ENST00000521891.2	+	2	2029	c.1581G>A	c.(1579-1581)gcG>gcA	p.A527A	ZFHX4_ENST00000455469.2_Silent_p.A527A|ZFHX4_ENST00000050961.6_Silent_p.A527A|ZFHX4_ENST00000518282.1_Silent_p.A527A|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	527						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCTCCTCGGCGACTGTTTCTG	0.433		NA								HNSCC(33;0.089)			False	0	False	8:77617904	0
BMS1P20	0	broad.mit.edu	37	22	22661636	22661636	+	RNA	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr22:22661636G>A	ENST00000426066.1	+	0	500					NR_027293.1					NA											NA						TGTGCATCGCGGAGCAGCCTT	0.428		NA											False	0	False	22:22661636	0
ABCF3	55324	broad.mit.edu	37	3	183907382	183907382	+	Missense_Mutation	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr3:183907382G>A	ENST00000429586.2	+	13	1336	c.1151G>A	c.(1150-1152)cGc>cAc	p.R384H	ABCF3_ENST00000292808.5_Missense_Mutation_p.R378H|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	384	ABC transporter 1.						ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCCCACGACCGCAACTTCTTG	0.587		NA											False	0	False	3:183907382	0
PXDN	7837	broad.mit.edu	37	2	1643096	1643096	+	Missense_Mutation	SNP	T	T	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr2:1643096T>A	ENST00000252804.4	-	20	4101	c.4051A>T	c.(4051-4053)Aca>Tca	p.T1351S		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1351					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CGTGGTCTTGTTTTCTTGGTC	0.562		NA											False	0	True	2:1643096	0
RANBP2	5903	broad.mit.edu	37	2	109371498	109371498	+	Silent	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr2:109371498G>A	ENST00000283195.6	+	16	2466	c.2340G>A	c.(2338-2340)ccG>ccA	p.P780P		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	780					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTCTACACCGTCTCCTACCA	0.353		NA											False	0	False	2:109371498	0
MYOZ3	91977	broad.mit.edu	37	5	150050154	150050154	+	Missense_Mutation	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr5:150050154G>A	ENST00000297130.4	+	3	369	c.170G>A	c.(169-171)cGc>cAc	p.R57H	MYOZ3_ENST00000517768.1_Missense_Mutation_p.R57H	NM_001122853.2|NM_133371.4	NP_001116325.1|NP_588612.2	Q8TDC0	MYOZ3_HUMAN	myozenin 3	57	Binding to ACTN2, PPP3CA and TCAP.					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)			AAGAGGCAGCGCCGTGTGCAG	0.582		NA											False	0	False	5:150050154	0
CASKIN1	57524	broad.mit.edu	37	16	2228602	2228602	+	Silent	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr16:2228602G>A	ENST00000343516.6	-	20	4337	c.4245C>T	c.(4243-4245)atC>atT	p.I1415I		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	1415					signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						ACATGCTGCCGATGTCGTCCA	0.741		NA											False	0	False	16:2228602	0
MC3R	4159	broad.mit.edu	37	20	54824819	54824819	+	Missense_Mutation	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr20:54824819G>A	ENST00000243911.2	+	1	1032	c.920G>A	c.(919-921)cGc>cAc	p.R307H		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	344					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CTGGAATTGCGCAACACCTTT	0.517		NA											False	0	False	20:54824819	0
GPT2	84706	broad.mit.edu	37	16	46943627	46943627	+	Missense_Mutation	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr16:46943627G>A	ENST00000440783.2	+	6	973	c.308G>A	c.(307-309)gGc>gAc	p.G103D	GPT2_ENST00000340124.4_Missense_Mutation_p.G203D	NM_001142466.1	NP_001135938.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	203					2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TCCGGGGGCGGCAAGTCACGG	0.537		NA											False	0	False	16:46943627	0
SEMA3E	9723	broad.mit.edu	37	7	83029563	83029563	+	Missense_Mutation	SNP	C	C	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr7:83029563C>T	ENST00000307792.3	-	11	1614	c.1147G>A	c.(1147-1149)Gcc>Acc	p.A383T	SEMA3E_ENST00000427262.1_Missense_Mutation_p.A323T	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	383	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				ACTTTGCTGGCACACTGAAAA	0.373		NA											False	0	False	7:83029563	0
NINL	22981	broad.mit.edu	37	20	25442226	25442226	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr20:25442226G>A	ENST00000278886.6	-	21	3701	c.3628C>T	c.(3628-3630)Cag>Tag	p.Q1210*	NINL_ENST00000422516.1_Nonsense_Mutation_p.Q861*	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1210					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TGATGTTCCTGATTCAGGCAT	0.468		NA											False	0	False	20:25442226	0
KMT2C	58508	broad.mit.edu	37	7	151970855	151970855	+	Missense_Mutation	SNP	G	G	C			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr7:151970855G>C	ENST00000355193.2	-	7	1165	c.947C>G	c.(946-948)aCc>aGc	p.T316S	KMT2C_ENST00000262189.6_Missense_Mutation_p.T316S					lysine (K)-specific methyltransferase 2C	NA								p.T316S(2)			NA						ATCCTGAAAGGTGCCGGCTCC	0.433		NA											False	0	False	7:151970855	0
ELAVL4	1996	broad.mit.edu	37	1	50642759	50642759	+	Splice_Site	SNP	A	A	G			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr1:50642759A>G	ENST00000371824.1	+	3	507		c.e3-1		ELAVL4_ENST00000371821.1_Splice_Site|ELAVL4_ENST00000371823.4_Splice_Site|ELAVL4_ENST00000492299.1_Splice_Site|ELAVL4_ENST00000371819.1_Splice_Site|ELAVL4_ENST00000448907.2_Splice_Site|ELAVL4_ENST00000371827.1_Splice_Site|ELAVL4_ENST00000357083.4_Splice_Site			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	NA					mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						ATATTTCCACAGGACAGAGTT	0.403		NA											False	0	False	1:50642759	0
FRMPD4	9758	broad.mit.edu	37	X	12516909	12516909	+	Missense_Mutation	SNP	T	T	C			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chrX:12516909T>C	ENST00000380682.1	+	2	658	c.152T>C	c.(151-153)tTc>tCc	p.F51S		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	51	WW.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CGAGACTACTTCATCAAGTAG	0.488		NA											False	0	False	X:12516909	0
CACNA1D	776	broad.mit.edu	37	3	53810001	53810001	+	Nonsense_Mutation	SNP	G	G	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr3:53810001G>T	ENST00000288139.4	+	36	4469	c.4351G>T	c.(4351-4353)Gag>Tag	p.E1451*	CACNA1D_ENST00000422281.2_Nonsense_Mutation_p.E1416*|CACNA1D_ENST00000540742.1_Nonsense_Mutation_p.E323*|CACNA1D_ENST00000350061.5_Nonsense_Mutation_p.E1431*	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	NA	Dihydropyridine binding (By similarity).|Phenylalkylamine binding (By similarity).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CAACCCCGGGGAGGAGTATAC	0.507		NA											False	0	True	3:53810001	0
TLK2	11011	broad.mit.edu	37	17	60679418	60679418	+	Missense_Mutation	SNP	T	T	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr17:60679418T>A	ENST00000582809.1	+	20	1992	c.1289T>A	c.(1288-1290)gTa>gAa	p.V430E	TLK2_ENST00000346027.5_Missense_Mutation_p.V579E|TLK2_ENST00000343388.7_Missense_Mutation_p.V547E|TLK2_ENST00000542523.1_Missense_Mutation_p.V547E|TLK2_ENST00000326270.9_Missense_Mutation_p.V601E			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	601					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						ATTCTTTTAGTAAATGGTACA	0.343		NA											False	0	True	17:60679418	0
GUSBP11	0	broad.mit.edu	37	22	23980718	23980718	+	RNA	SNP	C	C	G			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr22:23980718C>G	ENST00000455485.1	-	0	3771				AP000347.4_ENST00000430707.2_RNA|KB-1572G7.3_ENST00000390329.3_RNA						NA											NA						CTGGGTACAGCGAGAAGGGCT	0.522		NA											False	0	False	22:23980718	0
STK40	83931	broad.mit.edu	37	1	36807372	36807372	+	Missense_Mutation	SNP	C	C	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr1:36807372C>T	ENST00000373129.3	-	12	1698	c.1292G>A	c.(1291-1293)cGc>cAc	p.R431H	STK40_ENST00000373132.3_Missense_Mutation_p.R431H|STK40_ENST00000373130.3_Missense_Mutation_p.R436H|STK40_ENST00000359297.2_3'UTR	NM_032017.1	NP_114406.1	Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	431						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				CCGCAGGTAGCGCTGCGCCAG	0.672		NA											False	0	False	1:36807372	0
FGFR1	2260	broad.mit.edu	37	8	38279439	38279439	+	Silent	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr8:38279439G>A	ENST00000447712.2	-	8	1898	c.957C>T	c.(955-957)acC>acT	p.T319T	FGFR1_ENST00000397103.1_Intron|FGFR1_ENST00000397108.4_Silent_p.T317T|FGFR1_ENST00000356207.5_Silent_p.T230T|FGFR1_ENST00000425967.3_Silent_p.T350T|FGFR1_ENST00000341462.5_Intron|FGFR1_ENST00000326324.6_Silent_p.T228T|FGFR1_ENST00000335922.5_Silent_p.T311T|FGFR1_ENST00000397091.5_Silent_p.T317T|FGFR1_ENST00000397113.2_Silent_p.T317T|FGFR1_ENST00000532791.1_Silent_p.T319T|RP11-350N15.4_ENST00000528407.1_RNA	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	319	Ig-like C2-type 3.				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	TCTCTTTGTCGGTGGTATTAA	0.498		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						False	0	False	8:38279439	0
CHST14	113189	broad.mit.edu	37	15	40764233	40764233	+	Missense_Mutation	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr15:40764233G>A	ENST00000306243.5	+	1	1074	c.821G>A	c.(820-822)cGc>cAc	p.R274H	CHST14_ENST00000559991.1_Missense_Mutation_p.R249H	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14	274					carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding			cervix(1)|large_intestine(1)|prostate(2)	4		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		GACCCTGAGCGCATGAATGAG	0.587		NA											False	0	False	15:40764233	0
MTSS1L	92154	broad.mit.edu	37	16	70713713	70713713	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr16:70713713G>A	ENST00000338779.6	-	5	632	c.358C>T	c.(358-360)Cag>Tag	p.Q120*		NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	120	IMD.				filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						TTGTCCAGCTGGTTGGCCGCC	0.697		NA											False	0	False	16:70713713	0
KLHDC7A	127707	broad.mit.edu	37	1	18809344	18809344	+	Silent	SNP	C	C	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr1:18809344C>T	ENST00000400664.1	+	1	1921	c.1869C>T	c.(1867-1869)ttC>ttT	p.F623F		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	623						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTGACACGTTCGCCCTGGCGC	0.667		NA											False	0	False	1:18809344	0
AMOT	154796	broad.mit.edu	37	X	112048243	112048243	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chrX:112048243G>A	ENST00000371959.3	-	5	1707	c.1708C>T	c.(1708-1710)Cga>Tga	p.R570*	AMOT_ENST00000371958.1_Nonsense_Mutation_p.R338*|AMOT_ENST00000371962.1_Nonsense_Mutation_p.R338*|AMOT_ENST00000524145.1_Nonsense_Mutation_p.R570*|AMOT_ENST00000304758.1_Nonsense_Mutation_p.R161*	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	570					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TCGATGTGTCGTCTTTGGTCC	0.512		NA											False	0	False	X:112048243	0
HTR1A	3350	broad.mit.edu	37	5	63257304	63257304	+	Silent	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr5:63257304G>A	ENST00000323865.3	-	1	476	c.243C>T	c.(241-243)acC>acT	p.T81T	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	81					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CCATGAGGTCGGTGACCGCCA	0.612		NA											False	0	False	5:63257304	0
DPYSL5	56896	broad.mit.edu	37	2	27150261	27150261	+	Silent	SNP	C	C	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr2:27150261C>T	ENST00000288699.6	+	4	719	c.561C>T	c.(559-561)atC>atT	p.I187I	DPYSL5_ENST00000401478.1_Silent_p.I187I	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	187					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGGGGCAATCGCCCGCGTCC	0.527		NA											False	0	False	2:27150261	0
ADNP2	22850	broad.mit.edu	37	18	77896690	77896690	+	Nonstop_Mutation	SNP	T	T	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr18:77896690T>A	ENST00000262198.4	+	4	3849	c.3394T>A	c.(3394-3396)Taa>Aaa	p.*1132K		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	0					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		ATATGAACCATAAAACTTGCA	0.303		NA											False	0	True	18:77896690	0
PLEC	5339	broad.mit.edu	37	8	144994097	144994097	+	Missense_Mutation	SNP	G	G	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr8:144994097G>T	ENST00000322810.4	-	32	10472	c.10303C>A	c.(10303-10305)Ctg>Atg	p.L3435M	PLEC_ENST00000436759.2_Missense_Mutation_p.L3325M|PLEC_ENST00000356346.3_Missense_Mutation_p.L3284M|PLEC_ENST00000398774.2_Missense_Mutation_p.L3266M|PLEC_ENST00000345136.3_Missense_Mutation_p.L3298M|PLEC_ENST00000354958.2_Missense_Mutation_p.L3276M|PLEC_ENST00000527096.1_Missense_Mutation_p.L3321M|PLEC_ENST00000357649.2_Missense_Mutation_p.L3302M|PLEC_ENST00000354589.3_Missense_Mutation_p.L3298M	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3435	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCCTGCCGCAGGGTCTCCACC	0.637		NA											False	0	True	8:144994097	0
KCNMB1	0	broad.mit.edu	37	5	169812420	169812420	+	Missense_Mutation	SNP	C	C	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr5:169812420C>T	ENST00000274629.4	-	2	474	c.32G>A	c.(31-33)cGg>cAg	p.R11Q	KCNMB1_ENST00000521859.1_Missense_Mutation_p.R11Q|KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000518527.1_Intron	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	11					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		TGTCTCTCCCCGCTTCTGGGC	0.537		NA											False	0	True	5:169812420	0
CAPN3	825	broad.mit.edu	37	15	42695097	42695097	+	Missense_Mutation	SNP	C	C	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr15:42695097C>T	ENST00000397163.3	+	13	1861	c.1642C>T	c.(1642-1644)Cgc>Tgc	p.R548C	CAPN3_ENST00000397200.4_Missense_Mutation_p.R36C|CAPN3_ENST00000357568.3_Missense_Mutation_p.R548C|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Missense_Mutation_p.R461C|CAPN3_ENST00000349748.3_Missense_Mutation_p.R500C|CAPN3_ENST00000318023.7_Missense_Mutation_p.R548C	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	548	Domain III.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CCAGCGCTTCCGCCTGCCTCC	0.592		NA											False	0	True	15:42695097	0
ATP1A3	478	broad.mit.edu	37	19	42471441	42471441	+	Silent	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr19:42471441G>A	ENST00000545399.1	-	22	3165	c.3012C>T	c.(3010-3012)taC>taT	p.Y1004Y	ATP1A3_ENST00000543770.1_Silent_p.Y1002Y|ATP1A3_ENST00000302102.5_Silent_p.Y991Y|ATP1A3_ENST00000602133.1_Silent_p.Y961Y	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	991					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GGATTTCGTCGTAGACGAAGA	0.652		NA											False	0	False	19:42471441	0
DOPEY2	9980	broad.mit.edu	37	21	37603002	37603002	+	Missense_Mutation	SNP	G	G	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr21:37603002G>T	ENST00000399151.3	+	14	2005	c.1920G>T	c.(1918-1920)aaG>aaT	p.K640N		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	640					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTGCCAGCAAGAACATTTTTG	0.547		NA											False	0	False	21:37603002	0
KCNC1	3746	broad.mit.edu	37	11	17758047	17758047	+	Silent	SNP	C	C	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr11:17758047C>T	ENST00000379472.3	+	1	528	c.498C>T	c.(496-498)ggC>ggT	p.G166G	KCNC1_ENST00000265969.6_Silent_p.G166G	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	166						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GCCGGCCTGGCGGCTTTTGGC	0.687		NA											False	0	False	11:17758047	0
KCNJ4	3761	broad.mit.edu	37	22	38823844	38823844	+	Silent	SNP	G	G	C			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr22:38823844G>C	ENST00000303592.3	-	2	552	c.294C>G	c.(292-294)ggC>ggG	p.G98G		NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	98	Val/Gly/Ala/Pro stretch.				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					ccgccgccgggccccccgccg	0.682		NA											False	0	True	22:38823844	0
DUSP9	1852	broad.mit.edu	37	X	152915638	152915638	+	Missense_Mutation	SNP	C	C	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chrX:152915638C>T	ENST00000342782.3	+	4	1298	c.1033C>T	c.(1033-1035)Cgg>Tgg	p.R345W	DUSP9_ENST00000370167.4_Missense_Mutation_p.R345W			Q99956	DUS9_HUMAN	dual specificity phosphatase 9	345	Tyrosine-protein phosphatase.				inactivation of MAPK activity|JNK cascade	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCGCAGCTTGCGGCTGGAGGA	0.612		NA											False	0	False	X:152915638	0
GFPT2	9945	broad.mit.edu	37	5	179763567	179763567	+	Missense_Mutation	SNP	G	G	C			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr5:179763567G>C	ENST00000253778.8	-	3	295	c.126C>G	c.(124-126)atC>atG	p.I42M		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	42	Glutamine amidotransferase type-2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	TATTCCCATCGATCGCCACAC	0.473		NA											False	0	True	5:179763567	0
ACHE	43	broad.mit.edu	37	7	100491685	100491685	+	Missense_Mutation	SNP	C	C	T	rs17234982	byFrequency	TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr7:100491685C>T	ENST00000302913.4	-	2	307	c.169G>A	c.(169-171)Ggg>Agg	p.G57R	ACHE_ENST00000411582.1_Missense_Mutation_p.G57R|ACHE_ENST00000428317.1_Missense_Mutation_p.G57R|ACHE_ENST00000241069.5_Missense_Mutation_p.G57R|ACHE_ENST00000412389.1_Missense_Mutation_p.G57R|ACHE_ENST00000419336.2_Missense_Mutation_p.G57R	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN	acetylcholinesterase	57					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	ACAGGGCCCCCGGGGGTCTTC	0.701		NA											False	0	True	7:100491685	0
PCDH8	5100	broad.mit.edu	37	13	53420520	53420520	+	Silent	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr13:53420520G>A	ENST00000377942.3	-	1	2255	c.2052C>T	c.(2050-2052)cgC>cgT	p.R684R	PCDH8_ENST00000338862.4_Silent_p.R684R	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	684	Cadherin 6.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CCCTGAACACGCGACCGGGTG	0.706		NA											False	0	False	13:53420520	0
RYR3	6263	broad.mit.edu	37	15	34040439	34040439	+	Missense_Mutation	SNP	G	G	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr15:34040439G>T	ENST00000389232.4	+	54	8184	c.8114G>T	c.(8113-8115)cGa>cTa	p.R2705L	RYR3_ENST00000415757.3_Missense_Mutation_p.R2705L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2705	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R2705Q(2)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAGAAGCTTCGAAGTGTGTCC	0.577		NA											False	0	False	15:34040439	0
FMN2	56776	broad.mit.edu	37	1	240371129	240371129	+	Missense_Mutation	SNP	C	C	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr1:240371129C>T	ENST00000319653.9	+	5	3247	c.3017C>T	c.(3016-3018)gCg>gTg	p.A1006V		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1006	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTTCCCGGAGCGGGCATACCC	0.721		NA											False	0	True	1:240371129	0
MCMDC2	157777	broad.mit.edu	37	8	67809157	67809157	+	Missense_Mutation	SNP	C	C	T	rs142662778	byFrequency	TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr8:67809157C>T	ENST00000422365.2	+	12	1760	c.1589C>T	c.(1588-1590)gCg>gTg	p.A530V	MCMDC2_ENST00000396592.3_Missense_Mutation_p.A530V|MCMDC2_ENST00000313616.5_Missense_Mutation_p.A530V|MCMDC2_ENST00000541540.1_Missense_Mutation_p.A467V	NM_173518.4	NP_775789.3	Q4G0Z9	CH045_HUMAN	minichromosome maintenance domain containing 2	530					DNA replication		ATP binding|DNA binding	p.A525V(1)|p.A530V(1)		endometrium(2)|kidney(2)|lung(5)	9						CTGTTTTATGCGGCTTCTAGA	0.398		NA											False	0	False	8:67809157	0
VWA2	340706	broad.mit.edu	37	10	116046089	116046089	+	Silent	SNP	C	C	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr10:116046089C>T	ENST00000603594.1	+	11	1710	c.1389C>T	c.(1387-1389)ggC>ggT	p.G463G	VWA2_ENST00000392982.3_Silent_p.G463G	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	463	VWFA 2.					extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		AGGTTGCGGGCCCAGCGCGTC	0.657		NA											False	0	True	10:116046089	0
NKRF	55922	broad.mit.edu	37	X	118725258	118725258	+	Nonsense_Mutation	SNP	T	T	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chrX:118725258T>A	ENST00000371527.1	-	2	782	c.130A>T	c.(130-132)Aaa>Taa	p.K44*	NKRF_ENST00000304449.5_Nonsense_Mutation_p.K44*|NKRF_ENST00000487600.1_5'UTR|NKRF_ENST00000542113.1_Nonsense_Mutation_p.K59*	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	44	Active repression domain.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						GCTTGCTTTTTAGGAGGATTT	0.353		NA											False	0	True	X:118725258	0
PVRL1	5818	broad.mit.edu	37	11	119535865	119535865	+	Silent	SNP	C	C	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr11:119535865C>T	ENST00000264025.3	-	6	1676	c.1146G>A	c.(1144-1146)cgG>cgA	p.R382R	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	382					adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	p.R382R(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		TGAAGGTGTGCCGGCGCCGAC	0.657		NA											False	0	False	11:119535865	0
NCBP2L	392517	broad.mit.edu	37	X	107037530	107037530	+	Missense_Mutation	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chrX:107037530G>A	ENST00000509000.2	+	2	278	c.80G>A	c.(79-81)cGt>cAt	p.R27H	NCBP2L_ENST00000372379.2_Missense_Mutation_p.R27H					nuclear cap binding protein subunit 2-like	NA								p.R315P(1)		large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	5						TTCAGTGGCCGTAAATTTCAG	0.433		NA											False	0	False	X:107037530	0
KRTAP11-1	0	broad.mit.edu	37	21	32253572	32253572	+	Missense_Mutation	SNP	C	C	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr21:32253572C>A	ENST00000332378.4	-	1	302	c.272G>T	c.(271-273)tGt>tTt	p.C91F		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	91						keratin filament	structural molecule activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						GTTGGAAATACAGGTAGTTTG	0.567		NA											False	0	False	21:32253572	0
MUC5B	727897	broad.mit.edu	37	11	1272055	1272055	+	Missense_Mutation	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr11:1272055G>A	ENST00000447027.1	+	31	14012	c.13954G>A	c.(13954-13956)Gcc>Acc	p.A4652T	MUC5B_ENST00000529681.1_Missense_Mutation_p.A4649T			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4649	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.A4649T(1)|p.A4604T(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		cacccacaccgccagagtgct	0.612		NA											False	0	False	11:1272055	0
ATP11B	23200	broad.mit.edu	37	3	182591715	182591715	+	Missense_Mutation	SNP	C	C	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr3:182591715C>T	ENST00000323116.5	+	19	2424	c.2164C>T	c.(2164-2166)Cat>Tat	p.H722Y		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	722					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			ATCATGTGGCCATTTTCATAG	0.398		NA											False	0	False	3:182591715	0
CES4A	283848	broad.mit.edu	37	16	67040714	67040714	+	Missense_Mutation	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr16:67040714G>A	ENST00000326686.5	+	13	1511	c.1511G>A	c.(1510-1512)cGc>cAc	p.R504H	CES4A_ENST00000541479.1_Missense_Mutation_p.R457H|CES4A_ENST00000535696.1_Intron|CES4A_ENST00000338718.4_Intron|CES4A_ENST00000398354.1_Missense_Mutation_p.R434H|CES4A_ENST00000397205.2_Intron|CES4A_ENST00000540947.2_Intron|CES4A_ENST00000540579.1_Missense_Mutation_p.R406H			Q5XG92	EST4A_HUMAN	carboxylesterase 4A	504						extracellular region	carboxylesterase activity			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						AACTTTGCCCGCACAGGGTGA	0.567		NA											False	0	True	16:67040714	0
ZNF622	90441	broad.mit.edu	37	5	16453182	16453182	+	Missense_Mutation	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr5:16453182G>A	ENST00000308683.2	-	5	1372	c.1246C>T	c.(1246-1248)Cgg>Tgg	p.R416W		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	416						cytoplasm|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						ACGGCCTTCCGATTTTTGGCA	0.498		NA											False	0	False	5:16453182	0
ANKRD11	29123	broad.mit.edu	37	16	89347349	89347349	+	Silent	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr16:89347349G>A	ENST00000301030.4	-	9	6061	c.5601C>T	c.(5599-5601)tgC>tgT	p.C1867C	ANKRD11_ENST00000378330.2_Silent_p.C1867C	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1867	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CAGCCGGTGGGCAGTGCAAAG	0.622		NA											False	0	True	16:89347349	0
CHRD	8646	broad.mit.edu	37	3	184104344	184104344	+	Missense_Mutation	SNP	T	T	G			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr3:184104344T>G	ENST00000204604.1	+	16	2243	c.1997T>G	c.(1996-1998)gTg>gGg	p.V666G	CHRD_ENST00000450923.1_Missense_Mutation_p.V666G|CHRD_ENST00000348986.3_Missense_Mutation_p.V626G|CHRD_ENST00000545352.1_Intron|EIF2B5_ENST00000444495.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	666					BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCGAGGGGGTGCGGGCGCTG	0.726		NA											False	0	True	3:184104344	0
HOXB5	3215	broad.mit.edu	37	17	46670813	46670813	+	Missense_Mutation	SNP	C	C	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr17:46670813C>T	ENST00000239151.5	-	1	510	c.232G>A	c.(232-234)Gcg>Acg	p.A78T	HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000429755.4_RNA	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	78						nucleus	sequence-specific DNA binding			large_intestine(1)|lung(2)	3						TGGGCGGGCGCGGGGAAGGCG	0.687		NA											False	0	True	17:46670813	0
SLC5A1	6523	broad.mit.edu	37	22	32482250	32482250	+	Silent	SNP	C	C	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr22:32482250C>T	ENST00000266088.4	+	10	1315	c.1065C>T	c.(1063-1065)tgC>tgT	p.C355C	SLC5A1_ENST00000543737.1_Silent_p.C228C	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	355					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						AGAAATATTGCGGTACCAAGG	0.468		NA											False	0	False	22:32482250	0
SLC4A7	9497	broad.mit.edu	37	3	27431523	27431523	+	Missense_Mutation	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr3:27431523G>A	ENST00000295736.5	-	22	3302	c.3232C>T	c.(3232-3234)Ccg>Tcg	p.P1078S	SLC4A7_ENST00000435667.2_Missense_Mutation_p.P963S|SLC4A7_ENST00000440156.1_Missense_Mutation_p.P1074S|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000428386.1_Missense_Mutation_p.P954S|SLC4A7_ENST00000445684.1_Missense_Mutation_p.P1074S|SLC4A7_ENST00000437179.1_Missense_Mutation_p.P959S|SLC4A7_ENST00000455077.1_Missense_Mutation_p.P959S|SLC4A7_ENST00000446700.1_Missense_Mutation_p.P1070S|SLC4A7_ENST00000388777.4_Missense_Mutation_p.P628S|SLC4A7_ENST00000454389.1_Missense_Mutation_p.P1087S	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	1078						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						TTCCAGAGCGGCACATAACGG	0.373		NA											False	0	False	3:27431523	0
PTCH2	8643	broad.mit.edu	37	1	45288266	45288266	+	Missense_Mutation	SNP	C	C	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr1:45288266C>T	ENST00000372192.3	-	22	3563	c.3433G>A	c.(3433-3435)Gca>Aca	p.A1145T	PTCH2_ENST00000447098.2_Intron	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	1145					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GAGGAGGATGCCCCCCACCTA	0.627		NA							Basal Cell Nevus syndrome				False	0	True	1:45288266	0
TRBC2	0	broad.mit.edu	37	7	142498924	142498924	+	RNA	SNP	C	C	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr7:142498924C>T	ENST00000466254.1	+	0	200										NA											NA						AGGAGCAGCCCGCCCTCAATG	0.632		NA											False	0	True	7:142498924	0
OGDHL	55753	broad.mit.edu	37	10	50966564	50966564	+	Silent	SNP	C	C	T	rs149391137		TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr10:50966564C>T	ENST00000374103.4	-	2	160	c.75G>A	c.(73-75)ccG>ccA	p.P25P	OGDHL_ENST00000419399.1_Silent_p.P25P|OGDHL_ENST00000432695.1_Intron	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	25					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						AGCCAAACACCGGGACGTCAT	0.627		NA											False	0	True	10:50966564	0
HFM1	164045	broad.mit.edu	37	1	91739306	91739306	+	Silent	SNP	T	T	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr1:91739306T>A	ENST00000370425.3	-	34	3833	c.3735A>T	c.(3733-3735)ggA>ggT	p.G1245G	HFM1_ENST00000294696.5_Silent_p.G477G|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Silent_p.G924G	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1245							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GTCTAACTTTTCCATAGATTT	0.313		NA											False	0	True	1:91739306	0
PCDHGA1	0	broad.mit.edu	37	5	140712177	140712177	+	Silent	SNP	C	C	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr5:140712177C>T	ENST00000517417.1	+	1	1926	c.1926C>T	c.(1924-1926)ctC>ctT	p.L642L	PCDHGA1_ENST00000378105.3_Silent_p.L642L	NM_018912.2	NP_061735.1				NA										breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAGAGTCTCGTGGTGGCCG	0.701		NA											False	0	False	5:140712177	0
C1RL	51279	broad.mit.edu	37	12	7254566	7254566	+	Missense_Mutation	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr12:7254566G>A	ENST00000266542.4	-	3	510	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C	C1RL_ENST00000545280.1_Intron|C1RL_ENST00000545337.1_Missense_Mutation_p.R140C|C1RL_ENST00000544702.1_Missense_Mutation_p.R140C	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	140	CUB.				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGCTGTGTGCGGAAGGTCAGC	0.622		NA											False	0	False	12:7254566	0
COL28A1	340267	broad.mit.edu	37	7	7570984	7570984	+	Missense_Mutation	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr7:7570984G>A	ENST00000399429.3	-	3	816	c.676C>T	c.(676-678)Cgt>Tgt	p.R226C		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	226	VWFA 1.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CCTACCAGACGATCTTGAATT	0.373		NA											False	0	False	7:7570984	0
OTUD4	54726	broad.mit.edu	37	4	146058966	146058966	+	Silent	SNP	G	G	A	rs146975610	by1000genomes	TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr4:146058966G>A	ENST00000454497.2	-	21	2903	c.2766C>T	c.(2764-2766)agC>agT	p.S922S	OTUD4_ENST00000447906.2_Silent_p.S987S|OTUD4_ENST00000455611.2_Intron	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	986							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					TTTCTTTCAGGCTTTGAATGG	0.453		NA											False	0	False	4:146058966	0
CD72	971	broad.mit.edu	37	9	35616044	35616044	+	Missense_Mutation	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr9:35616044G>A	ENST00000396757.1	-	6	748	c.584C>T	c.(583-585)aCg>aTg	p.T195M	CD72_ENST00000490239.1_5'UTR|CD72_ENST00000259633.4_Missense_Mutation_p.T195M			P21854	CD72_HUMAN	CD72 molecule	195					axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity			large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGTCTCCTTCGTCTTCTGTCT	0.577		NA											False	0	False	9:35616044	0
AFF3	3899	broad.mit.edu	37	2	100210257	100210257	+	Silent	SNP	C	C	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr2:100210257C>T	ENST00000409236.2	-	13	1978	c.1866G>A	c.(1864-1866)ccG>ccA	p.P622P	AFF3_ENST00000356421.2_Silent_p.P647P|AFF3_ENST00000409579.1_Silent_p.P647P|AFF3_ENST00000317233.4_Silent_p.P622P			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	NA					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TGGTGGGCTCCGGGGGGACCA	0.736		NA											False	0	True	2:100210257	0
PHF19	26147	broad.mit.edu	37	9	123636876	123636876	+	Silent	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr9:123636876G>A	ENST00000373896.3	-	2	396	c.144C>T	c.(142-144)tgC>tgT	p.C48C	PHF19_ENST00000312189.6_Silent_p.C48C	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	48					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTGTCCACCGGCACAGCACAT	0.557		NA											False	0	True	9:123636876	0
NGF	4803	broad.mit.edu	37	1	115829176	115829176	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr1:115829176G>A	ENST00000369512.2	-	3	409	c.241C>T	c.(241-243)Cga>Tga	p.R81*	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	81					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	GAACGGAGTCGCCGCTTTTTA	0.642		NA											False	0	False	1:115829176	0
NR2C1	7181	broad.mit.edu	37	12	95451597	95451597	+	Missense_Mutation	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr12:95451597G>A	ENST00000333003.5	-	6	932	c.602C>T	c.(601-603)gCc>gTc	p.A201V	NR2C1_ENST00000393101.3_Missense_Mutation_p.A201V|NR2C1_ENST00000330677.7_Missense_Mutation_p.A201V|NR2C1_ENST00000545833.1_5'UTR	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	201					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						TGTTGAAGCGGCACAGTTGGA	0.343		NA											False	0	False	12:95451597	0
OR51E1	143503	broad.mit.edu	37	11	4674426	4674426	+	Missense_Mutation	SNP	A	A	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr11:4674426A>T	ENST00000396952.5	+	2	1320	c.670A>T	c.(670-672)Att>Ttt	p.I224F	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATATCTGCTTATTCTTAAGAC	0.483		NA											False	0	False	11:4674426	0
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			False	0	False	17:7578406	0
TFDP3	51270	broad.mit.edu	37	X	132351883	132351883	+	Silent	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chrX:132351883G>A	ENST00000310125.4	-	1	493	c.405C>T	c.(403-405)ggC>ggT	p.G135G		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	135						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.G135G(1)|p.G75G(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					CGACCAGCTCGCCCACCACTT	0.552		NA											False	0	True	X:132351883	0
ELF1	1997	broad.mit.edu	37	13	41523989	41523989	+	Missense_Mutation	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr13:41523989G>A	ENST00000239882.3	-	5	796	c.482C>T	c.(481-483)gCa>gTa	p.A161V	ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Missense_Mutation_p.A137V	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	161					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		CGGTGAGTCTGCATATTTTTC	0.473		NA											False	0	False	13:41523989	0
ADCY1	107	broad.mit.edu	37	7	45688285	45688285	+	Missense_Mutation	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr7:45688285G>A	ENST00000297323.7	+	5	1059	c.1037G>A	c.(1036-1038)cGc>cAc	p.R346H	ADCY1_ENST00000432715.1_Missense_Mutation_p.R121H	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	346					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CACTGTCGCCGCATCAAGATT	0.587		NA											False	0	False	7:45688285	0
ITIH2	3698	broad.mit.edu	37	10	7773950	7773950	+	Silent	SNP	G	G	A	rs150260189		TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr10:7773950G>A	ENST00000358415.4	+	13	1804	c.1638G>A	c.(1636-1638)acG>acA	p.T546T	ITIH2_ENST00000379587.4_Silent_p.T535T	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	546					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GCGTTATCACGGCGACTTCGG	0.438		NA											False	0	False	10:7773950	0
KRTAP8-1	0	broad.mit.edu	37	21	32185365	32185365	+	Silent	SNP	C	C	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr21:32185365C>T	ENST00000329621.4	-	1	205	c.174G>A	c.(172-174)tcG>tcA	p.S58S		NM_175857.3	NP_787053.1	Q8IUC2	KRA81_HUMAN	keratin associated protein 8-1	58						intermediate filament				central_nervous_system(1)|large_intestine(1)|lung(4)	6						GAGCAAATGGCGAGTATCTCC	0.562		NA											False	0	False	21:32185365	0
UPK1B	7348	broad.mit.edu	37	3	118913171	118913171	+	Missense_Mutation	SNP	G	G	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr3:118913171G>T	ENST00000264234.3	+	6	723	c.574G>T	c.(574-576)Gtt>Ttt	p.V192F	UPK1B_ENST00000460625.1_Missense_Mutation_p.V184F|UPK1B_ENST00000497685.1_Missense_Mutation_p.V112F	NM_006952.3	NP_008883.2	O75841	UPK1B_HUMAN	uroplakin 1B	192					epithelial cell differentiation	integral to membrane	structural molecule activity			breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	14				GBM - Glioblastoma multiforme(114;0.222)		TCAATGCTGTGTTATGAACAA	0.463		NA											False	0	False	3:118913171	0
GARS	2617	broad.mit.edu	37	7	30656770	30656770	+	Missense_Mutation	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr7:30656770G>A	ENST00000389266.3	+	10	1476	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	412					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity	p.R412H(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	TTCATTGGCCGCATCTACCTC	0.433		NA											False	0	False	7:30656770	0
PCDHB3	0	broad.mit.edu	37	5	140481563	140481563	+	Missense_Mutation	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr5:140481563G>A	ENST00000231130.2	+	1	1330	c.1330G>A	c.(1330-1332)Gtc>Atc	p.V444I	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		444	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTCTCCGACGTCAATGACAA	0.562		NA											False	0	False	5:140481563	0
MALT1	10892	broad.mit.edu	37	18	56409220	56409220	+	Missense_Mutation	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr18:56409220G>A	ENST00000348428.3	+	14	1985	c.1727G>A	c.(1726-1728)cGg>cAg	p.R576Q	RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Missense_Mutation_p.R565Q	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	576					activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						TCTCTTGTGCGGAATCTACAG	0.378		NA	T	BIRC3	MALT								False	0	False	18:56409220	0
FOXD4	2298	broad.mit.edu	37	9	117757	117757	+	Silent	SNP	C	C	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr9:117757C>T	ENST00000382500.2	-	1	660	c.363G>A	c.(361-363)ccG>ccA	p.P121P		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	121					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GGCGCTTGTGCGGGCTTTGCA	0.652		NA											False	0	True	9:117757	0
NBPF20	100288142	broad.mit.edu	37	1	148346684	148346684	+	Missense_Mutation	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr1:148346684G>A	ENST00000369202.1	-	2	270	c.73C>T	c.(73-75)Cgc>Tgc	p.R25C	NBPF20_ENST00000414710.2_Missense_Mutation_p.R25C					neuroblastoma breakpoint family, member 20	NA								p.R25C(1)		breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						AACTGGGGGCGCAATTTCTCG	0.507		NA											False	0	False	1:148346684	0
GPR133	283383	broad.mit.edu	37	12	131622750	131622750	+	Silent	SNP	C	C	T	rs34765022		TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr12:131622750C>T	ENST00000261654.5	+	24	3064	c.2505C>T	c.(2503-2505)aaC>aaT	p.N835N	GPR133_ENST00000540207.1_3'UTR|GPR133_ENST00000543617.1_Silent_p.N354N|GPR133_ENST00000376682.4_Silent_p.N521N|GPR133_ENST00000535015.1_Silent_p.N867N	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	835					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.N835N(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GCACCTCCAACGCGAAGCCCT	0.612		NA											False	0	False	12:131622750	0
HFM1	164045	broad.mit.edu	37	1	91846537	91846537	+	Missense_Mutation	SNP	C	C	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr1:91846537C>T	ENST00000370425.3	-	7	903	c.805G>A	c.(805-807)Gca>Aca	p.A269T	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Intron	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	269							ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.A269T(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CTAAATTTTGCCGCTTACAAT	0.219		NA											False	0	False	1:91846537	0
FPR3	2359	broad.mit.edu	37	19	52327921	52327921	+	Missense_Mutation	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr19:52327921G>A	ENST00000339223.4	+	2	1099	c.920G>A	c.(919-921)cGt>cAt	p.R307H	FPR3_ENST00000595991.1_Missense_Mutation_p.R307H	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	307					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						TTTATGGGTCGTAACTTCCAA	0.473		NA											False	0	False	19:52327921	0
CREBBP	1387	broad.mit.edu	37	16	3823809	3823809	+	Silent	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr16:3823809G>A	ENST00000262367.5	-	13	3215	c.2406C>T	c.(2404-2406)tcC>tcT	p.S802S	CREBBP_ENST00000382070.3_Silent_p.S764S	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	802					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TCGCCCCGCTGGATGACGGGA	0.607		NA	"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						False	0	False	16:3823809	0
THAP9	79725	broad.mit.edu	37	4	83827666	83827666	+	Missense_Mutation	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr4:83827666G>A	ENST00000302236.5	+	3	517	c.466G>A	c.(466-468)Gta>Ata	p.V156I		NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	156							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				ACTTATCTCCGTAAAGAACTA	0.388		NA											False	0	False	4:83827666	0
GTF2IRD1P1	0	broad.mit.edu	37	7	66304550	66304550	+	RNA	SNP	T	T	G			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr7:66304550T>G	ENST00000457166.1	-	0	255					NR_003934.1					NA											NA						CATCCCACAATCAGAATCCTC	0.542		NA											False	0	False	7:66304550	0
PCDH17	27253	broad.mit.edu	37	13	58208913	58208913	+	Missense_Mutation	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr13:58208913G>A	ENST00000377918.3	+	1	2259	c.2233G>A	c.(2233-2235)Gcc>Acc	p.A745T		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	745					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CTGCCGCATCGCCGAGTACAG	0.547		NA											False	0	False	13:58208913	0
WDR77	79084	broad.mit.edu	37	1	111991320	111991320	+	Silent	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr1:111991320G>A	ENST00000235090.5	-	2	428	c.222C>T	c.(220-222)tcC>tcT	p.S74S	WDR77_ENST00000411751.2_Silent_p.S74S	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77	74					ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGACTCCGGCGGAGCAGAAGC	0.622		NA											False	0	False	1:111991320	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25398284	0
HIPK3	10114	broad.mit.edu	37	11	33373714	33373714	+	Missense_Mutation	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr11:33373714G>A	ENST00000303296.4	+	16	3379	c.3074G>A	c.(3073-3075)cGa>cAa	p.R1025Q	HIPK3_ENST00000379016.3_Missense_Mutation_p.R1004Q|HIPK3_ENST00000456517.1_Missense_Mutation_p.R1004Q|HIPK3_ENST00000525975.1_Missense_Mutation_p.R1004Q	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	1025					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						ATAAAAGGACGATCTGCCCCT	0.378		NA											False	0	False	11:33373714	0
TLX2	3196	broad.mit.edu	37	2	74742813	74742813	+	Missense_Mutation	SNP	C	C	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr2:74742813C>T	ENST00000233638.7	+	2	777	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W		NM_016170.4	NP_057254.1	O43763	TLX2_HUMAN	T-cell leukemia homeobox 2	152						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|ovary(1)	2						CTACCAAAACCGGACCCCTCC	0.657		NA											False	0	False	2:74742813	0
SNHG14	0	broad.mit.edu	37	15	25427504	25427504	+	RNA	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr15:25427504G>A	ENST00000424208.1	+	0	272					NR_003305.1					NA											NA						TGCTGGATGCGTGTGCGGGGA	0.542		NA											False	0	False	15:25427504	0
CLSTN2	64084	broad.mit.edu	37	3	140277663	140277663	+	Missense_Mutation	SNP	G	G	A	rs137889465		TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr3:140277663G>A	ENST00000458420.3	+	12	2195	c.2005G>A	c.(2005-2007)Gcc>Acc	p.A669T		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	669					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	p.A669T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GAGCACCTTCGCCAAAACCGA	0.532		NA								HNSCC(16;0.037)			False	0	False	3:140277663	0
AMER1	139285	broad.mit.edu	37	X	63410676	63410676	+	Missense_Mutation	SNP	C	C	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chrX:63410676C>T	ENST00000330258.3	-	2	2763	c.2491G>A	c.(2491-2493)Gat>Aat	p.D831N	AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1	NA								p.0?(67)			NA						AGATCTTCATCATTGTGGAAC	0.507		NA											False	0	False	X:63410676	0
WNT5A	7474	broad.mit.edu	37	3	55504434	55504434	+	Missense_Mutation	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr3:55504434G>A	ENST00000474267.1	-	6	1350	c.829C>T	c.(829-831)Cgg>Tgg	p.R277W	WNT5A_ENST00000497027.1_Missense_Mutation_p.R262W|WNT5A_ENST00000264634.4_Missense_Mutation_p.R277W			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	277					activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		CTGTTGAGCCGCATGGCCGCC	0.612		NA											False	0	False	3:55504434	0
ATP2B2	491	broad.mit.edu	37	3	10452358	10452358	+	Missense_Mutation	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr3:10452358G>A	ENST00000397077.1	-	5	916	c.341C>T	c.(340-342)gCc>gTc	p.A114V	ATP2B2_ENST00000383800.4_Missense_Mutation_p.A114V|ATP2B2_ENST00000343816.4_Missense_Mutation_p.A114V|ATP2B2_ENST00000360273.2_Missense_Mutation_p.A114V|ATP2B2_ENST00000352432.4_Missense_Mutation_p.A114V			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	114					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GATGATGGCGGCAATCTCCAG	0.592		NA											False	0	False	3:10452358	0
WEE2	494551	broad.mit.edu	37	7	141418884	141418884	+	Nonsense_Mutation	SNP	C	C	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr7:141418884C>T	ENST00000397541.2	+	4	1004	c.598C>T	c.(598-600)Cga>Tga	p.R200*	WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000478332.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	200					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					ATGTGTTTTACGAGAAACCAA	0.343		NA											False	0	False	7:141418884	0
FBXL2	25827	broad.mit.edu	37	3	33400492	33400492	+	Silent	SNP	C	C	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr3:33400492C>T	ENST00000484457.1	+	3	190	c.99C>T	c.(97-99)tgC>tgT	p.C33C	FBXL2_ENST00000283627.6_Intron|FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000507198.1_Silent_p.C33C|FBXL2_ENST00000538892.1_Silent_p.C33C|FBXL2_ENST00000538181.1_Intron|FBXL2_ENST00000542085.1_5'UTR	NM_012157.3	NP_036289.3	Q9UKC9	FBXL2_HUMAN	F-box and leucine-rich repeat protein 2	33	F-box.				interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity	p.C33C(2)		endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						TAACTTTGTGCCGATGTGCAC	0.289		NA											False	0	False	3:33400492	0
GLCE	26035	broad.mit.edu	37	15	69553616	69553616	+	Silent	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr15:69553616G>A	ENST00000261858.2	+	4	1005	c.777G>A	c.(775-777)gcG>gcA	p.A259A	GLCE_ENST00000559500.1_3'UTR|GLCE_ENST00000559420.2_Silent_p.A195A	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	259					heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						GCTTTATGGCGAATGTGGCTG	0.393		NA											False	0	False	15:69553616	0
SYT2	127833	broad.mit.edu	37	1	202568444	202568444	+	Missense_Mutation	SNP	T	T	G			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr1:202568444T>G	ENST00000367267.1	-	8	1147	c.955A>C	c.(955-957)Aag>Cag	p.K319Q	SYT2_ENST00000367268.4_Missense_Mutation_p.K319Q	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	319	C2 2.|Phospholipid binding (By similarity).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	TTGAGCCTCTTGCCATTCTGC	0.532		NA											False	0	False	1:202568444	0
GPBAR1	151306	broad.mit.edu	37	2	219128297	219128297	+	Missense_Mutation	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr2:219128297G>A	ENST00000522678.1	+	2	1718	c.850G>A	c.(850-852)Gat>Aat	p.D284N	GPBAR1_ENST00000479077.1_Missense_Mutation_p.D284N|GPBAR1_ENST00000521462.1_Missense_Mutation_p.D284N|GPBAR1_ENST00000519574.1_Missense_Mutation_p.D284N	NM_001077191.1	NP_001070659.1	Q8TDU6	GPBAR_HUMAN	G protein-coupled bile acid receptor 1	284						integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|kidney(1)|large_intestine(1)|ovary(1)	4		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGGCTGGGCGATCAGCGCTA	0.687		NA											False	0	False	2:219128297	0
STEAP3	55240	broad.mit.edu	37	2	120005557	120005557	+	Silent	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr2:120005557G>A	ENST00000354888.5	+	4	1299	c.795G>A	c.(793-795)gtG>gtA	p.V265V	STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000409811.1_Silent_p.V265V|STEAP3_ENST00000425223.2_Silent_p.V265V|STEAP3_ENST00000393110.2_Silent_p.V275V|STEAP3_ENST00000450943.2_Silent_p.V265V|STEAP3_ENST00000393106.2_Silent_p.V265V|STEAP3_ENST00000393108.2_Silent_p.V265V|STEAP3_ENST00000393107.2_Silent_p.V265V	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	265	Ferric oxidoreductase.				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						TGGCCTACGTGCTGCTGTCAC	0.647		NA											False	0	False	2:120005557	0
ARID1B	57492	broad.mit.edu	37	6	157488191	157488191	+	Missense_Mutation	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr6:157488191G>A	ENST00000346085.5	+	10	2898	c.2897G>A	c.(2896-2898)gGc>gAc	p.G966D	ARID1B_ENST00000275248.4_Missense_Mutation_p.G895D|ARID1B_ENST00000367148.1_Missense_Mutation_p.G953D|ARID1B_ENST00000478761.2_3'UTR|ARID1B_ENST00000350026.5_Missense_Mutation_p.G953D	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	953					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AGTTTCCCCGGCATGAACCAG	0.537		NA											False	0	False	6:157488191	0
RASA1	5921	broad.mit.edu	37	5	86672813	86672813	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr5:86672813C>A	ENST00000456692.2	+	17	1884	c.1769C>A	c.(1768-1770)tCg>tAg	p.S590*	RASA1_ENST00000506290.1_Nonsense_Mutation_p.S601*|RASA1_ENST00000512763.1_Nonsense_Mutation_p.S600*|CTC-428H11.2_ENST00000607486.1_RNA|RASA1_ENST00000274376.6_Nonsense_Mutation_p.S767*	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	767	C2.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		AAGCTTGAATCGTTGTTGTTA	0.383		NA											False	0	True	5:86672813	0
MECR	51102	broad.mit.edu	37	1	29543100	29543100	+	Splice_Site	SNP	C	C	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr1:29543100C>A	ENST00000373791.3	-	2	418	c.46G>T	c.(46-48)Gga>Tga	p.G16*	MECR_ENST00000263702.6_Splice_Site_p.G92*|MECR_ENST00000489248.1_5'UTR	NM_001024732.1|NM_016011.2	NP_001019903|NP_057095.3	Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	92					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		CCAAGGTTACCTTGGATCATA	0.458		NA											False	0	False	1:29543100	0
POTEC	388468	broad.mit.edu	37	18	14513663	14513663	+	Missense_Mutation	SNP	C	C	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr18:14513663C>T	ENST00000358970.5	-	10	1530	c.1531G>A	c.(1531-1533)Gag>Aag	p.E511K		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	511								p.E511K(3)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAAAATACCTCAGAATTCATT	0.269		NA											False	0	False	18:14513663	0
USH2A	7399	broad.mit.edu	37	1	215987140	215987140	+	Missense_Mutation	SNP	C	C	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr1:215987140C>T	ENST00000366943.2	-	49	10063	c.9677G>A	c.(9676-9678)cGa>cAa	p.R3226Q	USH2A_ENST00000307340.3_Missense_Mutation_p.R3226Q			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3226					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)		CTCCTGTATTCGGCCACCACA	0.453		NA								HNSCC(13;0.011)			False	0	False	1:215987140	0
HK3	3101	broad.mit.edu	37	5	176308805	176308805	+	Missense_Mutation	SNP	G	G	A			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr5:176308805G>A	ENST00000292432.5	-	17	2372	c.2281C>T	c.(2281-2283)Cgc>Tgc	p.R761C		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	761	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGATGTGGCGGACGATCTCC	0.562		NA											False	0	False	5:176308805	0
FLNA	0	broad.mit.edu	37	X	153593084	153593084	+	Missense_Mutation	SNP	A	A	G			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chrX:153593084A>G	ENST00000422373.1	-	13	2080	c.1832T>C	c.(1831-1833)tTc>tCc	p.F611S	FLNA_ENST00000344736.4_Missense_Mutation_p.F611S|FLNA_ENST00000360319.4_Missense_Mutation_p.F611S|FLNA_ENST00000369850.3_Missense_Mutation_p.F611S	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	611					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTCCACCGAGAAGCCTGACAA	0.642		NA											False	0	False	X:153593084	0
TIGD4	201798	broad.mit.edu	37	4	153691293	153691293	+	Silent	SNP	C	C	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr4:153691293C>T	ENST00000304337.2	-	2	1684	c.864G>A	c.(862-864)gaG>gaA	p.E288E		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	288	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					CTGGAAAAGACTCAACAAAAA	0.398		NA											False	0	False	4:153691293	0
PTPN11	5781	broad.mit.edu	37	12	112926259	112926259	+	Silent	SNP	C	C	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr12:112926259C>T	ENST00000351677.2	+	12	1590	c.1392C>T	c.(1390-1392)ggC>ggT	p.G464G		NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	468	Substrate binding (By similarity).|Tyrosine-protein phosphatase.				axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						CTGGAATTGGCCGGACAGGGA	0.443		NA	Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome				False	0	False	12:112926259	0
CIRH1A	84916	broad.mit.edu	37	16	69197063	69197063	+	Silent	SNP	C	C	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr16:69197063C>T	ENST00000563094.1	+	14	1663	c.1629C>T	c.(1627-1629)atC>atT	p.I543I	CIRH1A_ENST00000352319.4_Silent_p.I428I|CIRH1A_ENST00000314423.7_Silent_p.I543I			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	543						nucleolus	protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		ACCTTGTCATCGCTCATTCGG	0.498		NA											False	0	False	16:69197063	0
EPHA5	2044	broad.mit.edu	37	4	66230893	66230893	+	Missense_Mutation	SNP	C	C	T			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr4:66230893C>T	ENST00000273854.3	-	12	2678	c.2078G>A	c.(2077-2079)cGt>cAt	p.R693H	EPHA5_ENST00000354839.4_Missense_Mutation_p.R671H|EPHA5_ENST00000432638.2_Missense_Mutation_p.R530H|EPHA5_ENST00000511294.1_Missense_Mutation_p.R694H	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	693	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.R693H(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TAGTTTCAAACGTCCACTACA	0.358		NA								TSP Lung(17;0.13)			False	0	True	4:66230893	0
