Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
SEPT1	1731	broad.mit.edu	37	16	30389949	30389949	+	Silent	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr16:30389949G>A	ENST00000321367.3	-	11	1185	c.1140C>T	c.(1138-1140)atC>atT	p.I380I	SEPT1_ENST00000571393.1_Silent_p.I333I|SEPT1_ENST00000605106.1_Silent_p.I338I	NM_052838.4	NP_443070.5	Q8WYJ6	SEPT1_HUMAN	septin 1	333					cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			CTTTCTCGCGGATCAGCTTCT	0.657000													4	44					0	0	1	0	0
ZNF519	162655	broad.mit.edu	37	18	14105045	14105045	+	Silent	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr18:14105045G>A	ENST00000590202.1	-	3	1646	c.1494C>T	c.(1492-1494)acC>acT	p.T498T	ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron|RP11-411B10.3_ENST00000592926.1_RNA	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	498					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						GTGAGCTCCTGGTAAAAGCTT	0.408000													10	121					0	0	1	0	0
WDR46	9277	broad.mit.edu	37	6	33255197	33255197	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr6:33255197T>A	ENST00000374617.4	-	8	1170	c.814A>T	c.(814-816)Atc>Ttc	p.I272F		NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	272										NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						CAGCGGCGGATACAGTGGAGC	0.562000													18	52					0	0	1	0	0
GABRA5	2558	broad.mit.edu	37	15	27193200	27193200	+	Silent	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr15:27193200C>G	ENST00000335625.5	+	11	2097	c.1209C>G	c.(1207-1209)gtC>gtG	p.V403V	GABRA5_ENST00000400081.3_Silent_p.V403V|GABRA5_ENST00000355395.5_Silent_p.V403V	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	403					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CAACCTCAGTCTCAGTAAAAC	0.428000													3	18					0	0	1	0	0
SMARCAL1	50485	broad.mit.edu	37	2	217279767	217279767	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr2:217279767C>T	ENST00000357276.4	+	3	670	c.340C>T	c.(340-342)Cgt>Tgt	p.R114C	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.R114C	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	114			R -> H (in dbSNP:rs11555797).		chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CCACAGTCCACGTAGTCAAAT	0.488000									Schimke Immuno-Osseous Dysplasia				6	58					0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134751107	134751107	+	Silent	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr10:134751107C>T	ENST00000368586.5	-	6	709	c.609G>A	c.(607-609)ccG>ccA	p.P203P	TTC40_ENST00000368585.3_Silent_p.P203P|TTC40_ENST00000368582.2_Silent_p.P203P	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	0										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						ACTTAATGAACGGAGCTGCCG	0.443000													31	233					0	0	1	0	0
KCNIP2	30819	broad.mit.edu	37	10	103587992	103587992	+	Silent	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr10:103587992C>G	ENST00000358038.3	-	6	810	c.459G>C	c.(457-459)gtG>gtC	p.V153V	KCNIP2_ENST00000348850.5_Silent_p.V126V|KCNIP2_ENST00000461105.1_Silent_p.V186V|KCNIP2-AS1_ENST00000412353.1_RNA|KCNIP2_ENST00000355657.2_5'UTR|KCNIP2_ENST00000356640.2_Silent_p.V171V|KCNIP2_ENST00000353068.3_Silent_p.V128V|KCNIP2_ENST00000343195.4_Silent_p.V121V|KCNIP2_ENST00000370046.1_Intron	NM_173192.2|NM_173193.2|NM_173195.2	NP_775284.1|NP_775285.1|NP_775287.1	Q9NS61	KCIP2_HUMAN	Kv channel interacting protein 2	171	EF-hand 2.				clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission	cytoplasm|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|calcium ion binding|ER retention sequence binding|identical protein binding|protein N-terminus binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.122)		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)		CCCGAAGAATCACGGACAAAC	0.542000													13	88					0	0	1	0	0
MCM10	55388	broad.mit.edu	37	10	13213059	13213059	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr10:13213059G>A	ENST00000378694.1	+	2	220	c.145G>A	c.(145-147)Gac>Aac	p.D49N	MCM10_ENST00000378714.3_Missense_Mutation_p.D49N|MCM10_ENST00000484800.2_Missense_Mutation_p.D49N			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	49					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						CTTTGATGCCGACGGCGACGG	0.458000													6	217					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195515449	195515449	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:195515449A>T	ENST00000463781.3	-	2	3461	c.3002T>A	c.(3001-3003)gTa>gAa	p.V1001E	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.V1001E	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1006	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.V1001A(1)|p.V1001E(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACCTGTGGATACTGAGGAAGC	0.587000													3	16					0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6083352	6083352	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr4:6083352C>T	ENST00000409021.3	-	6	1534	c.1085G>A	c.(1084-1086)cGg>cAg	p.R362Q	JAKMIP1_ENST00000282924.5_Missense_Mutation_p.R362Q|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.R197Q|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.R197Q|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R362Q|JAKMIP1_ENST00000457227.2_5'UTR	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	362	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CACGTTTTCCCGCGTGAGGTT	0.527000													5	85					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86468860	86468860	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr7:86468860C>T	ENST00000361669.2	+	4	3129	c.2030C>T	c.(2029-2031)gCt>gTt	p.A677V	GRM3_ENST00000394720.2_Intron|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.A269V|GRM3_ENST00000536043.1_Missense_Mutation_p.A549V	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	677					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	AAGAATGGCGCTCAGAGGCCA	0.547000													12	96					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179588290	179588290	+	Silent	SNP	T	T	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr2:179588290T>C	ENST00000589042.1	-	74	21761	c.21537A>G	c.(21535-21537)aaA>aaG	p.K7179K	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.K5935K|TTN_ENST00000591111.1_Silent_p.K6862K|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6862	Ig-like 53.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCGGTCTCCTTTCACTAGTT	0.423000													15	35					0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168369850	168369850	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr6:168369850C>T	ENST00000366806.2	+	33	5435	c.5293C>T	c.(5293-5295)Cgg>Tgg	p.R1765W	MLLT4_ENST00000351017.4_Missense_Mutation_p.R1772W|MLLT4_ENST00000447894.2_Missense_Mutation_p.R1765W|MLLT4_ENST00000400822.3_Missense_Mutation_p.R1775W|MLLT4_ENST00000392112.1_Missense_Mutation_p.R1684W			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1765					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TGACGCCTGTCGGGATGCAAA	0.468000			T	MLL	AL								4	55					0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86037123	86037123	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr8:86037123G>C	ENST00000414626.2	+	7	2050	c.1161G>C	c.(1159-1161)aaG>aaC	p.K387N	LRRCC1_ENST00000360375.3_Missense_Mutation_p.K407N			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	407					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						AAAAGCCAAAGACTGAAATAA	0.299000													18	290					0	0	1	0	0
TTLL8	164714	broad.mit.edu	37	22	50479651	50479651	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr22:50479651T>C	ENST00000266182.6	-	8	885	c.886A>G	c.(886-888)Atg>Gtg	p.M296V	TTLL8_ENST00000440475.1_Intron					tubulin tyrosine ligase-like family, member 8											NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		TCAAATGACATCATAACCTTC	0.552000													40	126					0	0	1	0	0
ZNF813	126017	broad.mit.edu	37	19	53994186	53994186	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:53994186C>G	ENST00000396403.4	+	4	828	c.700C>G	c.(700-702)Caa>Gaa	p.Q234E	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	234					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		AAGGAAACATCAAATAATCCA	0.383000													14	150					0	0	1	0	0
CEP57	9702	broad.mit.edu	37	11	95546634	95546634	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr11:95546634C>A	ENST00000325542.5	+	4	623	c.385C>A	c.(385-387)Ctg>Atg	p.L129M	CEP57_ENST00000537677.1_Missense_Mutation_p.L102M|CEP57_ENST00000538658.1_Missense_Mutation_p.L129M|CEP57_ENST00000541150.1_Missense_Mutation_p.L120M|CEP57_ENST00000536587.1_3'UTR|CEP57_ENST00000325486.5_Missense_Mutation_p.L129M	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	129	centrosome localization domain (CLD) (By similarity).				fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CTTTTTAGAACTGACATCTCA	0.313000									Mosaic Variegated Aneuploidy Syndrome				11	29					2.27111e-07	2.45974e-07	1	1	0
GPR4	2828	broad.mit.edu	37	19	46094344	46094344	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:46094344C>G	ENST00000323040.4	-	2	1725	c.781G>C	c.(781-783)Gag>Cag	p.E261Q	OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	261						integral to plasma membrane	G-protein coupled receptor activity	p.E261*(3)		breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		ACGCGCTCCTCGAAGCCGCAG	0.637000													5	97					0	0	1	0	0
MAP3K5	4217	broad.mit.edu	37	6	136913455	136913455	+	Silent	SNP	A	A	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr6:136913455A>G	ENST00000359015.4	-	23	3441	c.3081T>C	c.(3079-3081)gaT>gaC	p.D1027D	MAP3K5_ENST00000355845.4_Silent_p.D274D	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1027					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		GAGCACTGTGATCTTCAAAAT	0.438000													28	259					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144879044	144879044	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:144879044G>A	ENST00000369359.4	-	30	4852	c.4814C>T	c.(4813-4815)tCg>tTg	p.S1605L	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.S1469L|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S1605L|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1469L|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1425L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1469	NBPF.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCCAGGCCACGAGGCTGATCT	0.507000			T	PDGFRB	MPD								13	286					0	0	1	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37187894	37187894	+	RNA	SNP	T	T	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr17:37187894T>C	ENST00000425901.2	+	0	1736					NR_033753.2																						GGAACTTACCTTAACTCCAGA	0.488000													10	87					0	0	1	0	0
RGS3	5998	broad.mit.edu	37	9	116357928	116357928	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr9:116357928G>C	ENST00000374140.2	+	25	3503	c.3294G>C	c.(3292-3294)gaG>gaC	p.E1098D	RGS3_ENST00000350696.5_Missense_Mutation_p.E1098D|RGS3_ENST00000343817.5_Missense_Mutation_p.E817D|RGS3_ENST00000374134.3_Missense_Mutation_p.E419D|RGS3_ENST00000462143.1_Missense_Mutation_p.E419D|RGS3_ENST00000394646.3_Missense_Mutation_p.E491D|RGS3_ENST00000462403.1_Missense_Mutation_p.E211D|RGS3_ENST00000342620.5_Missense_Mutation_p.E68D	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	1098	RGS.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TCAGTGAGGAGAATCTGGAGT	0.517000													6	130					0	0	1	0	0
PHLPP2	23035	broad.mit.edu	37	16	71710535	71710535	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr16:71710535G>A	ENST00000393524.2	-	8	2019	c.1286C>T	c.(1285-1287)aCc>aTc	p.T429I	PHLPP2_ENST00000568954.1_Missense_Mutation_p.T429I|PHLPP2_ENST00000360429.3_Missense_Mutation_p.T429I|PHLPP2_ENST00000567016.1_Missense_Mutation_p.T464I|PHLPP2_ENST00000356272.3_Missense_Mutation_p.T429I			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	429						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						AATAACCATGGTTTTCAAATG	0.368000													17	81					0	0	1	0	0
PCDHA11	56138	broad.mit.edu	37	5	140249438	140249438	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr5:140249438C>A	ENST00000398640.2	+	1	750	c.750C>A	c.(748-750)agC>agA	p.S250R	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATAAGGTGAGCCTTATGGAAA	0.438000													6	15					0.00116845	0.00120542	1	1	0
HAUS2	55142	broad.mit.edu	37	15	42851582	42851582	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr15:42851582G>A	ENST00000260372.3	+	3	295	c.232G>A	c.(232-234)Gat>Aat	p.D78N	HAUS2_ENST00000568846.2_Missense_Mutation_p.D47N|HAUS2_ENST00000568876.1_Missense_Mutation_p.D47N	NM_018097.2	NP_060567.1	Q9NVX0	HAUS2_HUMAN	HAUS augmin-like complex, subunit 2	78					cell division|centrosome organization|G2/M transition of mitotic cell cycle|mitosis|spindle assembly	centrosome|cytosol|HAUS complex|microtubule|spindle				endometrium(1)|large_intestine(1)|lung(1)	3						AGATACAGCAGATGTTGTTCA	0.368000													11	64					0	0	1	0	0
TRIM45	80263	broad.mit.edu	37	1	117661121	117661121	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:117661121C>T	ENST00000256649.4	-	2	1283	c.757G>A	c.(757-759)Gag>Aag	p.E253K	TRIM45_ENST00000369461.3_Missense_Mutation_p.E196K|TRIM45_ENST00000369464.3_Missense_Mutation_p.E253K	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	253						cytoplasm|nucleus	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		AGGGCTTCCTCCAGGGCCTCC	0.567000													9	57					0	0	1	0	0
PROS1	5627	broad.mit.edu	37	3	93646165	93646165	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:93646165C>A	ENST00000394236.3	-	2	479	c.163G>T	c.(163-165)Gaa>Taa	p.E55*	PROS1_ENST00000407433.1_5'UTR	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	55	Gla.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	CATTCTCTTTCAAGATTACCC	0.403000													18	185					3.51602e-12	3.89871e-12	1	1	0
ZNF462	58499	broad.mit.edu	37	9	109685854	109685854	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr9:109685854G>T	ENST00000277225.5	+	2	479	c.190G>T	c.(190-192)Gat>Tat	p.D64Y	RP11-508N12.4_ENST00000451160.2_Missense_Mutation_p.D64Y|ZNF462_ENST00000457913.1_Missense_Mutation_p.D64Y			Q96JM2	ZN462_HUMAN	zinc finger protein 462	64					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TTCTATAAAGGATGAATTTGC	0.418000													11	129					0.00010058	0.000104424	1	1	0
OR7A17	26333	broad.mit.edu	37	19	14991960	14991960	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:14991960C>G	ENST00000327462.2	-	1	304	c.208G>C	c.(208-210)Gac>Cac	p.D70H		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					AAACAGATGTCTGCAAAGGAC	0.507000													7	88					0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16359523	16359523	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr20:16359523C>T	ENST00000354981.2	-	19	3281	c.3124G>A	c.(3124-3126)Ggc>Agc	p.G1042S	KIF16B_ENST00000378003.2_Missense_Mutation_p.G268S|KIF16B_ENST00000355755.3_Missense_Mutation_p.G1042S|KIF16B_ENST00000408042.1_Missense_Mutation_p.G1042S	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1042	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TCTCTGCTGCCACTGTTCAGA	0.602000													8	200					0	0	1	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42164481	42164481	+	Silent	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr20:42164481C>T	ENST00000444063.1	+	14	1692	c.1560C>T	c.(1558-1560)ccC>ccT	p.P520P	L3MBTL1_ENST00000418998.1_Silent_p.P588P|L3MBTL1_ENST00000427442.2_Silent_p.P588P|L3MBTL1_ENST00000373135.3_Silent_p.P520P|L3MBTL1_ENST00000373134.1_Silent_p.P520P			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	520					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						TTTTAGGACCCAGAGAGCCCA	0.612000													6	91					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179510677	179510677	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr2:179510677C>A	ENST00000589042.1	-	217	40602	c.40378G>T	c.(40378-40380)Gat>Tat	p.D13460Y	TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D10892Y|TTN_ENST00000591111.1_Missense_Mutation_p.D11819Y|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11819	Ig-like 90.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTTCACATCTTCCTTAGGT	0.408000													3	11					0.014758	0.0148951	1	1	0
LRRIQ4	344657	broad.mit.edu	37	3	169540093	169540093	+	Silent	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:169540093C>T	ENST00000340806.6	+	1	384	c.384C>T	c.(382-384)acC>acT	p.T128T		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	128										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TCTACCAGACCGACCTGAAGG	0.567000													13	120					0	0	1	0	0
CRMP1	1400	broad.mit.edu	37	4	5868411	5868411	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr4:5868411C>T	ENST00000324989.7	-	2	542	c.454G>A	c.(454-456)Gag>Aag	p.E152K	CRMP1_ENST00000512574.1_Missense_Mutation_p.E36K|CRMP1_ENST00000397890.2_Missense_Mutation_p.E38K|CRMP1_ENST00000511535.1_5'UTR	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	38					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		AGTCCATCCTCCAGGTAGACG	0.483000													19	105					0	0	1	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86537765	86537765	+	Silent	SNP	A	A	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr7:86537765A>G	ENST00000450689.2	-	17	2639	c.2454T>C	c.(2452-2454)taT>taC	p.Y818Y	KIAA1324L_ENST00000444627.1_Silent_p.Y747Y|KIAA1324L_ENST00000297222.6_Silent_p.Y578Y|KIAA1324L_ENST00000416314.1_Silent_p.Y651Y	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	818						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TCACTTACTTATAAAAGAAAT	0.294000													18	99					0	0	1	0	0
SPIDR	23514	broad.mit.edu	37	8	48353027	48353027	+	Silent	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr8:48353027G>C	ENST00000297423.4	+	8	1404	c.1020G>C	c.(1018-1020)ctG>ctC	p.L340L	SPIDR_ENST00000518074.1_Silent_p.L280L|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000541342.1_Silent_p.L270L	NM_001080394.2	NP_001073863.1			scaffolding protein involved in DNA repair																		GAGCTGGCCTGAAAGTTCTCT	0.577000													4	106					0	0	1	0	0
UPF1	5976	broad.mit.edu	37	19	18965503	18965503	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:18965503C>T	ENST00000262803.5	+	9	1522	c.1250C>T	c.(1249-1251)tCg>tTg	p.S417L	UPF1_ENST00000599848.1_Missense_Mutation_p.S428L	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	428					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GTGTGGAAGTCGACCTCCTTT	0.567000													12	146					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100673707	100673707	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr8:100673707C>G	ENST00000358544.2	+	35	6220	c.6109C>G	c.(6109-6111)Ctg>Gtg	p.L2037V	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.L2012V	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2037					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TAAAGACTTTCTGAATGGACC	0.338000													8	65					0	0	1	0	0
TTC39C	125488	broad.mit.edu	37	18	21660589	21660589	+	Silent	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr18:21660589G>A	ENST00000317571.3	+	5	737	c.501G>A	c.(499-501)aaG>aaA	p.K167K	TTC39C_ENST00000578150.1_3'UTR|TTC39C_ENST00000304621.6_Silent_p.K106K|RP11-403A21.3_ENST00000578443.1_RNA	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	167							binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						AAGCCTGGAAGATTTACAATA	0.358000													12	99					0	0	1	0	0
FMNL2	114793	broad.mit.edu	37	2	153475432	153475432	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr2:153475432C>G	ENST00000288670.9	+	14	1754	c.1387C>G	c.(1387-1389)Caa>Gaa	p.Q463E		NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	463	GBD/FH3.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						AGAAGCAATTCAAAGACAGTC	0.373000													7	55					0	0	1	0	0
OR5H14	403273	broad.mit.edu	37	3	97868949	97868949	+	Silent	SNP	C	C	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:97868949C>A	ENST00000437310.1	+	1	780	c.720C>A	c.(718-720)acC>acA	p.T240T		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CCTTCTCCACCTGTGGAGCTC	0.413000													29	81					8.58068e-18	9.78078e-18	1	1	0
FBXO15	201456	broad.mit.edu	37	18	71749185	71749185	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr18:71749185C>T	ENST00000269500.5	-	9	1347	c.1012G>A	c.(1012-1014)Gat>Aat	p.D338N	FBXO15_ENST00000580806.1_5'UTR|FBXO15_ENST00000419743.2_Missense_Mutation_p.D414N	NM_152676.2	NP_689889.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	338										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		TCAAAAATATCAGTTTTCCAC	0.279000													11	79					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518001	113518001	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr7:113518001G>A	ENST00000284601.3	-	4	3214	c.3146C>T	c.(3145-3147)tCt>tTt	p.S1049F		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1049					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AGTAGAAGCAGAGCTGTCAGA	0.373000													20	244					0	0	1	0	0
C14orf105	55195	broad.mit.edu	37	14	57960409	57960409	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr14:57960409G>A	ENST00000216445.3	-	1	161	c.25C>T	c.(25-27)Cac>Tac	p.H9Y	C14orf105_ENST00000526336.1_Missense_Mutation_p.H9Y|C14orf105_ENST00000422976.2_Missense_Mutation_p.H9Y|C14orf105_ENST00000534126.1_Missense_Mutation_p.H9Y	NM_018168.2	NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	9										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						ACCCTAAGGTGAGTCTTAGAG	0.428000													7	55					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120599312	120599312	+	Silent	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr12:120599312G>A	ENST00000300648.6	-	22	2430	c.2418C>T	c.(2416-2418)atC>atT	p.I806I		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	806					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCTCCAGCTCGATGATCTGCT	0.522000													24	148					0	0	1	0	0
ANKRD50	57182	broad.mit.edu	37	4	125592193	125592193	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr4:125592193C>G	ENST00000504087.1	-	4	3276	c.2239G>C	c.(2239-2241)Gat>Cat	p.D747H	ANKRD50_ENST00000515641.1_Missense_Mutation_p.D568H	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	747										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GTCATGCCATCTTTATCACAA	0.453000													15	91					0	0	1	0	0
COPRS	55352	broad.mit.edu	37	17	30179992	30179992	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr17:30179992G>A	ENST00000378634.2	-	3	441	c.188C>T	c.(187-189)tCt>tTt	p.S63F	COPRS_ENST00000302362.6_Missense_Mutation_p.S75F					coordinator of PRMT5, differentiation stimulator																		TTCCTCTTCAGAATGGGTGCC	0.512000													28	300					0	0	1	0	0
DPY19L2	283417	broad.mit.edu	37	12	63991675	63991675	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr12:63991675G>C	ENST00000324472.4	-	14	1558	c.1375C>G	c.(1375-1377)Ctt>Gtt	p.L459V		NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	459					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		GCTGCTATAAGATCACTCAGG	0.313000													11	101					0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7064653	7064653	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr11:7064653A>T	ENST00000299481.4	+	4	1742	c.1396A>T	c.(1396-1398)Att>Ttt	p.I466F		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	466	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CAGCAATATTATTCAGAAGGA	0.388000													22	118					0	0	1	0	0
LRRC31	79782	broad.mit.edu	37	3	169569448	169569448	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:169569448A>C	ENST00000316428.5	-	7	1175	c.1118T>G	c.(1117-1119)aTc>aGc	p.I373S	LRRC31_ENST00000523069.1_Missense_Mutation_p.I373S|LRRC31_ENST00000264676.5_Missense_Mutation_p.I317S	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	373										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			ACAGTTGTTGATAACTAATGA	0.418000													13	120					0	0	1	0	0
FAM196A	642938	broad.mit.edu	37	10	128973746	128973746	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr10:128973746A>T	ENST00000522781.1	-	4	1469	c.914T>A	c.(913-915)cTg>cAg	p.L305Q	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Missense_Mutation_p.L305Q	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	305										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TGAGCAGGCCAGGGCAGTTTC	0.672000													6	70					0	0	1	0	0
DHX32	55760	broad.mit.edu	37	10	127569194	127569194	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr10:127569194T>C	ENST00000284690.3	-	1	690	c.200A>G	c.(199-201)gAa>gGa	p.E67G	DHX32_ENST00000284688.6_Missense_Mutation_p.E67G	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	67						mitochondrion|nucleus	ATP binding|helicase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GGAGTATTTTTCTTTCCATAT	0.378000													9	85					0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76713618	76713618	+	Silent	SNP	C	C	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr6:76713618C>A	ENST00000369950.3	-	11	1374	c.1185G>T	c.(1183-1185)ctG>ctT	p.L395L	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	395					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AAGATGTGGGCAGCTCTGATT	0.383000													8	68					0.00621372	0.00629091	1	1	0
PZP	5858	broad.mit.edu	37	12	9309893	9309893	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr12:9309893T>C	ENST00000261336.2	-	28	3456	c.3428A>G	c.(3427-3429)gAg>gGg	p.E1143G	PZP_ENST00000381997.2_Missense_Mutation_p.E929G	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						ATGGGTCCCCTCCTTTGCTAC	0.468000													30	102					0	0	1	0	0
SLFN13	146857	broad.mit.edu	37	17	33768044	33768044	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr17:33768044T>A	ENST00000285013.6	-	6	2539	c.2264A>T	c.(2263-2265)aAt>aTt	p.N755I	SLFN13_ENST00000542635.1_Missense_Mutation_p.N755I|SLFN13_ENST00000360502.2_Missense_Mutation_p.N437I|SLFN13_ENST00000533791.1_Missense_Mutation_p.N755I|SLFN13_ENST00000534689.1_Missense_Mutation_p.N437I|SLFN13_ENST00000526861.1_Missense_Mutation_p.N755I	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	755						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ATGGGGGATATTAATTGGAGG	0.383000													25	180					0	0	1	0	0
UVSSA	57654	broad.mit.edu	37	4	1369264	1369264	+	Silent	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr4:1369264C>G	ENST00000389851.4	+	9	1848	c.1401C>G	c.(1399-1401)ctC>ctG	p.L467L	UVSSA_ENST00000512728.1_Silent_p.L18L|UVSSA_ENST00000511563.1_Silent_p.L18L|UVSSA_ENST00000511216.1_Silent_p.L467L|UVSSA_ENST00000507531.1_Silent_p.L467L	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN	UV-stimulated scaffold protein A	467																	TGCGGCAGCTCCGGGACCACT	0.662000													11	107					0	0	1	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140755818	140755818	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr5:140755818G>A	ENST00000517434.1	+	1	2168	c.2168G>A	c.(2167-2169)cGc>cAc	p.R723H	PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACAAGTCACGCCTGCTGCAG	0.647000													33	128					0	0	1	0	0
SNTG1	54212	broad.mit.edu	37	8	51449336	51449336	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr8:51449336C>G	ENST00000522124.1	+	11	1309	c.648C>G	c.(646-648)ttC>ttG	p.F216L	SNTG1_ENST00000517473.1_Missense_Mutation_p.F216L|SNTG1_ENST00000518864.1_Missense_Mutation_p.F216L|SNTG1_ENST00000276467.5_Missense_Mutation_p.F216L	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	216					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				ATTCGCGCTTCTCTCAGTATG	0.483000													20	216					0	0	1	0	0
TIGD3	220359	broad.mit.edu	37	11	65123763	65123763	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr11:65123763C>G	ENST00000309880.5	+	2	691	c.484C>G	c.(484-486)Ctt>Gtt	p.L162V		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	162					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						TCAGCTGCCTCTTTCCCTAAA	0.592000													6	261					0	0	1	0	0
TMEM27	57393	broad.mit.edu	37	X	15682496	15682496	+	Silent	SNP	C	C	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chrX:15682496C>A	ENST00000380342.3	-	2	336	c.81G>T	c.(79-81)gtG>gtT	p.V27V		NM_020665.4	NP_065716.1	Q9HBJ8	TMM27_HUMAN	transmembrane protein 27	27					proteolysis	integral to membrane	metallopeptidase activity|peptidyl-dipeptidase activity			endometrium(3)|lung(4)|ovary(1)	8	Hepatocellular(33;0.183)					TACTAAGTCTCACTTTAAAAG	0.358000													3	16					0.150653	0.150653	1	1	0
CROCCP2	84809	broad.mit.edu	37	1	16946438	16946438	+	RNA	SNP	G	G	A	rs28392876	by1000genomes	TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:16946438G>A	ENST00000412962.1	-	0	1081																											GCCTTCCGCCGGGCCAGCAGC	0.672000													3	29					0	0	1	0	0
TRPA1	8989	broad.mit.edu	37	8	72935163	72935163	+	Missense_Mutation	SNP	T	T	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr8:72935163T>G	ENST00000262209.4	-	27	3545	c.3338A>C	c.(3337-3339)aAa>aCa	p.K1113T	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	1113						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	ATGGTGTGTTTTTGCCTTGAC	0.423000													11	93					0	0	1	0	0
MLH1	4292	broad.mit.edu	37	3	37090050	37090050	+	Missense_Mutation	SNP	G	G	C	rs63750109		TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:37090050G>C	ENST00000231790.2	+	17	2155	c.1939G>C	c.(1939-1941)Gtg>Ctg	p.V647L	MLH1_ENST00000435176.1_Missense_Mutation_p.V549L|MLH1_ENST00000458205.2_Missense_Mutation_p.V406L|MLH1_ENST00000536378.1_Missense_Mutation_p.V406L|MLH1_ENST00000539477.1_Missense_Mutation_p.V406L|MLH1_ENST00000455445.2_Missense_Mutation_p.V406L	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	647	Interaction with EXO1.				mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TGACAACTATGTGCCCCCTTT	0.448000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				31	190					0	0	1	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47621631	47621631	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr20:47621631G>A	ENST00000371917.4	+	26	3457	c.3457G>A	c.(3457-3459)Gtg>Atg	p.V1153M		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1153					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TAATGAAGATGTGGCTATCTT	0.433000													9	363					0	0	1	0	0
GPR111	222611	broad.mit.edu	37	6	47649190	47649190	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr6:47649190G>T	ENST00000398742.2	+	5	740	c.691G>T	c.(691-693)Gga>Tga	p.G231*	GPR111_ENST00000507065.1_Nonsense_Mutation_p.G231*|GPR111_ENST00000296862.1_Nonsense_Mutation_p.G299*			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	299					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CACCATATCTGGAGATAACAT	0.378000													17	115					1.5739e-10	1.73341e-10	1	1	0
BMS1	9790	broad.mit.edu	37	10	43318566	43318566	+	Splice_Site	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr10:43318566G>A	ENST00000374518.4	+	20	3196	c.3132_splice	c.e20-1	p.G1045_splice		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1045					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ATACCTGTAGGGAATGTTTAA	0.388000													4	131					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78360157	78360157	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr17:78360157C>G	ENST00000582970.1	+	62	14790	c.14647C>G	c.(14647-14649)Ctc>Gtc	p.L4883V	CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000427003.3_3'UTR|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.L2956V|CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.L4932V	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGCTACCGCTCTCGTCAGCTA	0.532000													4	177					0	0	1	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135801212	135801212	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:135801212G>A	ENST00000264977.3	+	8	3354	c.2737G>A	c.(2737-2739)Gat>Aat	p.D913N	PPP2R3A_ENST00000492624.2_3'UTR|PPP2R3A_ENST00000490467.1_Missense_Mutation_p.D177N|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.D292N	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	913					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ACTAGATACTGATCACGACCT	0.358000													49	799					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179615620	179615620	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr2:179615620C>T	ENST00000360870.5	-	46	11729	c.11507G>A	c.(11506-11508)aGa>aAa	p.R3836K	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9671							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGCTGTCCTCTTGCTTGGGT	0.373000													5	132					0	0	1	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135721723	135721723	+	Silent	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:135721723C>T	ENST00000264977.3	+	2	2000	c.1383C>T	c.(1381-1383)tgC>tgT	p.C461C	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	461					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TTAAAAAATGCCCCACCCCAA	0.328000													7	658					0	0	1	0	0
ZNF649	65251	broad.mit.edu	37	19	52394092	52394092	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:52394092C>T	ENST00000354957.3	-	5	1581	c.1297G>A	c.(1297-1299)Gat>Aat	p.D433N	ZNF649_ENST00000600738.1_Missense_Mutation_p.D405N|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	433					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		TCACACTCATCACAGCCATAG	0.438000													40	220					0	0	1	0	0
TRIM45	80263	broad.mit.edu	37	1	117660854	117660854	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:117660854C>G	ENST00000256649.4	-	2	1550	c.1024G>C	c.(1024-1026)Gag>Cag	p.E342Q	TRIM45_ENST00000369461.3_Missense_Mutation_p.E285Q|TRIM45_ENST00000369464.3_Missense_Mutation_p.E342Q	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	342						cytoplasm|nucleus	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		ATGAGGATCTCCAAGTCTGAG	0.532000													18	97					0	0	1	0	0
CDH26	60437	broad.mit.edu	37	20	58559753	58559753	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr20:58559753C>G	ENST00000348616.4	+	6	901	c.601C>G	c.(601-603)Caa>Gaa	p.Q201E	CDH26_ENST00000244047.5_Missense_Mutation_p.Q201E	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	201	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TCCAAATTCTCAAGTCCTTTA	0.373000													17	213					0	0	1	0	0
MTHFD2P1	100287639	broad.mit.edu	37	3	95374461	95374461	+	RNA	SNP	G	G	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:95374461G>T	ENST00000494840.1	-	0	1400					NR_077228.1																						TCTGGAAGAGGCAGCTGAACA	0.378000													9	63					3.09899e-07	3.34526e-07	1	1	0
TPR	7175	broad.mit.edu	37	1	186302476	186302476	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:186302476T>C	ENST00000367478.3	-	37	5529	c.5233A>G	c.(5233-5235)Agt>Ggt	p.S1745G		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1745					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		ACGGATCCACTTGTGCTTCCA	0.403000			T	NTRK1	papillary thyroid								35	110					0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1424759	1424759	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:1424759G>C	ENST00000446702.2	+	18	2927	c.2300G>C	c.(2299-2301)aGc>aCc	p.S767T	CNTN6_ENST00000350110.2_Missense_Mutation_p.S767T|CNTN6_ENST00000539053.1_Missense_Mutation_p.S695T			Q9UQ52	CNTN6_HUMAN	contactin 6	767	Fibronectin type-III 2.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AGAAATGAAAGCATCATCCCA	0.448000													12	66					0	0	1	0	0
KCNA10	3744	broad.mit.edu	37	1	111060290	111060290	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:111060290C>T	ENST00000369771.2	-	1	1507	c.1120G>A	c.(1120-1122)Gag>Aag	p.E374K		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	374						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		AACCCCAACTCCCGCATGGAC	0.552000													8	106					0	0	1	0	0
KMT2E	55904	broad.mit.edu	37	7	104730610	104730610	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr7:104730610C>A	ENST00000334877.4	+	14	2047	c.1513C>A	c.(1513-1515)Caa>Aaa	p.Q505K	KMT2E_ENST00000257745.4_Missense_Mutation_p.Q505K|KMT2E_ENST00000311117.3_Missense_Mutation_p.Q505K|KMT2E_ENST00000476671.1_Missense_Mutation_p.Q505K|KMT2E_ENST00000334914.7_5'UTR					lysine (K)-specific methyltransferase 2E																		AAAAGATACACAAAATCAGAA	0.333000													7	138					8.12818e-05	8.46578e-05	1	1	0
FREM2	341640	broad.mit.edu	37	13	39425231	39425231	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr13:39425231G>C	ENST00000280481.7	+	10	6944	c.6728G>C	c.(6727-6729)cGa>cCa	p.R2243P		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2243	Calx-beta 5.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ATAAGGATCCGAGATGATGCT	0.423000													11	89					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32906550	32906550	+	Missense_Mutation	SNP	T	T	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr13:32906550T>G	ENST00000544455.1	+	10	1162	c.935T>G	c.(934-936)tTt>tGt	p.F312C	BRCA2_ENST00000380152.3_Missense_Mutation_p.F312C	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	312					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TCATTATGTTTTTCTAAATGT	0.308000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			53	103					0	0	1	0	0
PNPLA4	8228	broad.mit.edu	37	X	7890081	7890081	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chrX:7890081G>T	ENST00000381042.4	-	3	409	c.239C>A	c.(238-240)gCa>gAa	p.A80E	PNPLA4_ENST00000537427.1_5'UTR|PNPLA4_ENST00000444736.1_Missense_Mutation_p.A80E	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN	patatin-like phospholipase domain containing 4	80	Patatin.				lipid catabolic process		triglyceride lipase activity			kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				GGGCGTTACTGCCCCGAAAGA	0.408000													6	54					0.00198382	0.00203373	1	1	0
BPTF	2186	broad.mit.edu	37	17	65909123	65909123	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr17:65909123A>G	ENST00000321892.4	+	13	5562	c.5501A>G	c.(5500-5502)tAt>tGt	p.Y1834C	BPTF_ENST00000306378.6_Missense_Mutation_p.Y1708C|BPTF_ENST00000335221.5_Missense_Mutation_p.Y1834C|BPTF_ENST00000424123.3_Missense_Mutation_p.Y1695C			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1834					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CTGCCATCCTATAGAAAATTT	0.408000													17	81					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996369	140996369	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chrX:140996369C>A	ENST00000285879.4	+	4	3465	c.3179C>A	c.(3178-3180)cCc>cAc	p.P1060H	MAGEC1_ENST00000406005.2_Missense_Mutation_p.P127H	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1060	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CGGGAGGTGCCCAACTCTTCT	0.517000										HNSCC(15;0.026)			27	176					1.1804e-14	1.32237e-14	1	1	0
GCC2	9648	broad.mit.edu	37	2	109099602	109099602	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr2:109099602G>C	ENST00000309863.6	+	12	4144	c.3430G>C	c.(3430-3432)Gaa>Caa	p.E1144Q		NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1144					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AACCATGCAAGAATTAGAGCT	0.313000													17	48					0	0	1	0	0
PSTPIP2	9050	broad.mit.edu	37	18	43604625	43604625	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr18:43604625T>A	ENST00000409746.5	-	3	233	c.162A>T	c.(160-162)aaA>aaT	p.K54N	PSTPIP2_ENST00000588801.1_5'UTR|PSTPIP2_ENST00000589328.1_Missense_Mutation_p.K54N	NM_024430.3	NP_077748.3	Q9H939	PPIP2_HUMAN	proline-serine-threonine phosphatase interacting protein 2	54	FCH.					membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						TGAGCAGATCTTTGCCATACC	0.458000													5	242					0	0	1	0	0
OR51F2	119694	broad.mit.edu	37	11	4843569	4843569	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr11:4843569C>G	ENST00000322110.5	+	1	1019	c.954C>G	c.(952-954)atC>atG	p.I318M	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	318					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I318I(1)		breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGCCATTATCAAGGTCTTAA	0.363000													20	148					0	0	1	0	0
NEDD9	4739	broad.mit.edu	37	6	11190781	11190781	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr6:11190781T>C	ENST00000379446.5	-	5	1487	c.1321A>G	c.(1321-1323)Atg>Gtg	p.M441V	RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Missense_Mutation_p.M441V	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	441					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			TGTCTTTCCATATATCCGTAA	0.522000													12	42					0	0	1	0	0
WDR66	144406	broad.mit.edu	37	12	122396334	122396334	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr12:122396334G>T	ENST00000288912.4	+	12	2741	c.1887G>T	c.(1885-1887)atG>atT	p.M629I	WDR66_ENST00000397454.2_Missense_Mutation_p.M629I	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	629							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		TCTGTGGGATGATCAAAGTGT	0.458000													6	246					0.0215528	0.0216858	1	1	0
KCNH1	3756	broad.mit.edu	37	1	210856679	210856679	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:210856679C>G	ENST00000367007.4	-	11	3002	c.2833G>C	c.(2833-2835)Gaa>Caa	p.E945Q	KCNH1_ENST00000271751.4_Missense_Mutation_p.E972Q	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	972	CAD (involved in subunit assembly) (By similarity).				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CTCGATATTTCAAACAACTCC	0.433000													16	169					0	0	1	0	0
ZNF226	7769	broad.mit.edu	37	19	44680026	44680026	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:44680026A>G	ENST00000590089.1	+	7	978	c.611A>G	c.(610-612)gAt>gGt	p.D204G	ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000337433.5_Missense_Mutation_p.D204G|ZNF226_ENST00000454662.2_Missense_Mutation_p.D204G			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				AAGGGTGTTGATCCCATCGGT	0.343000													8	79					0	0	1	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090596	238090596	+	RNA	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:238090596G>A	ENST00000450451.1	+	0	2102					NR_027247.2																						AGGGACTCTGGAGATGGGGTC	0.617000													8	47					0	0	1	0	0
DTYMK	1841	broad.mit.edu	37	2	242617876	242617876	+	Silent	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr2:242617876C>T	ENST00000305784.2	-	4	726	c.519G>A	c.(517-519)ttG>ttA	p.L173L		NM_001165031.1|NM_012145.3	NP_001158503.1|NP_036277.2	P23919	KTHY_HUMAN	deoxythymidylate kinase (thymidylate kinase)	173					cell cycle|cell proliferation|nucleobase, nucleoside and nucleotide interconversion	cytosol	ATP binding|nucleoside phosphate kinase activity|thymidylate kinase activity			NS(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.6e-33)|all cancers(36;3.57e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.23e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		CCTTCCAGTTCAAAGTCGTGT	0.572000													17	139					0	0	1	0	0
PCDHA3	56145	broad.mit.edu	37	5	140182668	140182668	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr5:140182668G>C	ENST00000522353.2	+	1	1886	c.1886G>C	c.(1885-1887)gGa>gCa	p.G629A	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.G629A|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTACACGGGAGAGATCAGC	0.657000													10	96					0	0	1	0	0
KCTD8	386617	broad.mit.edu	37	4	44177257	44177257	+	Silent	SNP	C	C	T	rs141348340		TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr4:44177257C>T	ENST00000360029.3	-	2	1255	c.972G>A	c.(970-972)caG>caA	p.Q324Q		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	324						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						ATACTATTTTCTGAGGTGGTC	0.333000										HNSCC(17;0.042)			4	43					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42005443	42005443	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr15:42005443G>A	ENST00000219905.7	+	9	3360	c.3179G>A	c.(3178-3180)aGt>aAt	p.S1060N	MGA_ENST00000570161.1_Missense_Mutation_p.S1060N|MGA_ENST00000545763.1_Missense_Mutation_p.S1060N|MGA_ENST00000389936.4_Missense_Mutation_p.S1060N|MGA_ENST00000566586.1_Missense_Mutation_p.S1060N	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1060						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GTATGTTCCAGTCTAGCTTTG	0.463000													16	136					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113988224	113988224	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr8:113988224C>T	ENST00000297405.5	-	7	1428	c.1184G>A	c.(1183-1185)cGa>cAa	p.R395Q	CSMD3_ENST00000343508.3_Missense_Mutation_p.R355Q|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Missense_Mutation_p.R395Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	395						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AACTTGCACTCGCTGTTCCTC	0.502000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			15	193					0	0	1	0	0
PTGFRN	5738	broad.mit.edu	37	1	117509829	117509829	+	Missense_Mutation	SNP	C	C	G	rs140095202		TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:117509829C>G	ENST00000393203.2	+	6	2083	c.1936C>G	c.(1936-1938)Cag>Gag	p.Q646E	PTGFRN_ENST00000496699.1_3'UTR	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	646	Ig-like C2-type 5.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GTACCAGACTCAGGTCTCAGA	0.537000													7	103					0	0	1	0	0
KLHL38	340359	broad.mit.edu	37	8	124658219	124658219	+	Silent	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr8:124658219G>C	ENST00000325995.7	-	3	1529	c.1506C>G	c.(1504-1506)gtC>gtG	p.V502V	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	502										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CCGCACATTTGACAAATTTGT	0.522000													9	127					0	0	1	0	0
DOCK6	57572	broad.mit.edu	37	19	11353808	11353808	+	Silent	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:11353808G>A	ENST00000294618.7	-	13	1418	c.1407C>T	c.(1405-1407)gaC>gaT	p.D469D		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	469					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						AGAGGTCCTCGTCACTGAGTC	0.647000											OREG0025252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	68					0	0	1	0	0
RAB4B-EGLN2	100529264	broad.mit.edu	37	19	41292772	41292772	+	Silent	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:41292772G>A	ENST00000594136.1	+	7	651	c.546G>A	c.(544-546)agG>agA	p.R182R	RAB4B_ENST00000357052.2_Silent_p.R182R|RAB4B_ENST00000594800.1_Silent_p.R182R|RAB4B-EGLN2_ENST00000601949.1_3'UTR																							ACCCGGAGAGGATGGGCTCTG	0.701000													9	82					0	0	1	0	0
ZHX1	11244	broad.mit.edu	37	8	124267752	124267752	+	Silent	SNP	T	T	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr8:124267752T>C	ENST00000395571.3	-	3	1052	c.435A>G	c.(433-435)gaA>gaG	p.E145E	ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000522655.1_Silent_p.E145E|ZHX1_ENST00000297857.2_Silent_p.E145E	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	145					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TTATTGTTTGTTCAAAGATTG	0.348000													35	175					0	0	1	0	0
RAD50	10111	broad.mit.edu	37	5	131931469	131931469	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr5:131931469G>T	ENST00000378823.3	+	13	2575	c.1757G>T	c.(1756-1758)cGg>cTg	p.R586L	RAD50_ENST00000265335.6_Missense_Mutation_p.R725L	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	725					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAGGAAAAGCGGCGTGATGAA	0.428000								Homologous recombination					13	111					5.50884e-06	5.86889e-06	1	1	0
SMG8	55181	broad.mit.edu	37	17	57288997	57288997	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr17:57288997G>T	ENST00000543872.2	+	2	1849	c.1585G>T	c.(1585-1587)Gcc>Tcc	p.A529S	SMG8_ENST00000578922.1_Missense_Mutation_p.A529S|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000300917.5_Missense_Mutation_p.A529S|SMG8_ENST00000580498.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	529					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						GAATCAGCTTGCCCAGGCTCT	0.453000													14	91					2.23348e-06	2.39512e-06	1	1	0
FCER1A	2205	broad.mit.edu	37	1	159272207	159272207	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:159272207T>C	ENST00000368115.1	+	2	152	c.53T>C	c.(52-54)tTc>tCc	p.F18S	FCER1A_ENST00000368114.1_Missense_Mutation_p.F18S	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	18						integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	TTACTGTTCTTCGGTAAGTAG	0.502000													21	224					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10364348	10364348	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr17:10364348G>T	ENST00000255381.2	-	12	1142	c.1032C>A	c.(1030-1032)ttC>ttA	p.F344L	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	344	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CATCAGCAGTGAAACCCAGGA	0.488000													13	80					0.00185496	0.00190762	1	1	0
LRRK2	120892	broad.mit.edu	37	12	40745477	40745477	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr12:40745477A>C	ENST00000298910.7	+	44	6576	c.6518A>C	c.(6517-6519)cAc>cCc	p.H2173P		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2173					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GGCTGTGGGCACACCGACAGA	0.398000													4	50					0	0	1	0	0
GBP5	115362	broad.mit.edu	37	1	89729504	89729504	+	Missense_Mutation	SNP	G	G	C	rs141794180	byFrequency	TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:89729504G>C	ENST00000343435.5	-	9	1813	c.1277C>G	c.(1276-1278)tCt>tGt	p.S426C	GBP5_ENST00000481145.1_5'UTR|RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Missense_Mutation_p.S426C	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	426						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TCCTGGCTTAGAATAAATTCC	0.423000													22	231					0	0	1	0	0
PIK3R4	30849	broad.mit.edu	37	3	130409457	130409457	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:130409457G>A	ENST00000356763.3	-	14	3697	c.3140C>T	c.(3139-3141)aCg>aTg	p.T1047M	PIK3R4_ENST00000512677.1_5'UTR	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1047					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GAATGTGAGCGTCTTGACTCG	0.403000													9	67					0	0	1	0	0
LUC7L3	51747	broad.mit.edu	37	17	48827910	48827910	+	Missense_Mutation	SNP	G	G	A	rs144920769		TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr17:48827910G>A	ENST00000505658.1	+	10	1376	c.1187G>A	c.(1186-1188)cGa>cAa	p.R396Q	LUC7L3_ENST00000544170.1_Missense_Mutation_p.R320Q|LUC7L3_ENST00000393227.2_Missense_Mutation_p.R396Q|LUC7L3_ENST00000240304.1_Missense_Mutation_p.R396Q			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	396					apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						TCCGGTAGTCGAGAAAAGCAG	0.373000													7	110					0	0	1	0	0
SESTD1	91404	broad.mit.edu	37	2	180036954	180036954	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr2:180036954C>A	ENST00000428443.3	-	5	578	c.262G>T	c.(262-264)Gtt>Ttt	p.V88F	SESTD1_ENST00000486468.1_5'UTR	NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	88	CRAL-TRIO.				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			TCAGCTGGAACAACATTCTAT	0.313000													15	200					2.48551e-13	2.77491e-13	1	1	0
CYP2A13	1553	broad.mit.edu	37	19	41600977	41600977	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:41600977G>C	ENST00000330436.3	+	8	1275	c.1275G>C	c.(1273-1275)aaG>aaC	p.K425N		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	425					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	AGTTTAAGAAGAGTGATGCTT	0.577000													5	187					0	0	1	0	0
C16orf78	123970	broad.mit.edu	37	16	49430357	49430357	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr16:49430357G>C	ENST00000299191.3	+	4	535	c.418G>C	c.(418-420)Gac>Cac	p.D140H		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	140										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						GGATGCAGTCGACCCAGAGTC	0.517000													5	72					0	0	1	0	0
ERCC3	2071	broad.mit.edu	37	2	128030455	128030455	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr2:128030455T>C	ENST00000493187.2	-	11	2084	c.1621A>G	c.(1621-1623)Atc>Gtc	p.I541V	ERCC3_ENST00000285398.2_Missense_Mutation_p.I605V			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	605					cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GATATGAAGATGGTGTTAATT	0.483000			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				4	92					0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23113727	23113727	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr16:23113727C>A	ENST00000219689.7	-	6	1146	c.1147G>T	c.(1147-1149)Gac>Tac	p.D383Y		NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	383					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GTTTCCAGGTCGTCTGTATCA	0.408000													32	122					2.46105e-21	2.8151e-21	1	1	0
ABCD4	5826	broad.mit.edu	37	14	74762564	74762564	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr14:74762564C>T	ENST00000356924.4	-	6	804	c.661G>A	c.(661-663)Gat>Aat	p.D221N	ABCD4_ENST00000298816.7_Missense_Mutation_p.D134N|ABCD4_ENST00000557588.1_Intron|ABCD4_ENST00000557554.1_Intron	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	221	ABC transmembrane type-1.					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		CACCTAAAATCTCCCTCCAGC	0.488000													9	90					0	0	1	0	0
MCM7	4176	broad.mit.edu	37	7	99693551	99693551	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr7:99693551G>A	ENST00000303887.5	-	11	2086	c.1441C>T	c.(1441-1443)Cgc>Tgc	p.R481C	MCM7_ENST00000343023.6_Intron|MCM7_ENST00000354230.3_Missense_Mutation_p.R305C	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	481	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	ATGGAGCAGCGGGCATTGAGT	0.632000													10	92					0	0	1	0	0
ILDR2	387597	broad.mit.edu	37	1	166888585	166888585	+	Silent	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:166888585G>C	ENST00000469934.2	-	9	1467	c.1254C>G	c.(1252-1254)gtC>gtG	p.V418V	ILDR2_ENST00000528703.1_3'UTR|ILDR2_ENST00000529071.1_3'UTR|ILDR2_ENST00000525740.1_3'UTR|ILDR2_ENST00000529387.1_3'UTR|ILDR2_ENST00000526687.1_3'UTR|ILDR2_ENST00000271417.3_3'UTR			Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	0						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GAGAAATGTTGACAACATCAG	0.458000													4	41					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106976771	106976771	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr10:106976771C>G	ENST00000369701.3	+	19	2852	c.2625C>G	c.(2623-2625)atC>atG	p.I875M	SORCS3_ENST00000369699.4_Missense_Mutation_p.I161M	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	875	PKD.					integral to membrane	neuropeptide receptor activity	p.I875I(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCAGCCCCATCGAGGACGGCA	0.532000													9	91					0	0	1	0	0
TNIP3	79931	broad.mit.edu	37	4	122085252	122085252	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr4:122085252C>G	ENST00000454328.1	-	3	256	c.29G>C	c.(28-30)aGa>aCa	p.R10T	TNIP3_ENST00000057513.3_Missense_Mutation_p.R10T|TNIP3_ENST00000507879.1_Missense_Mutation_p.R80T|TNIP3_ENST00000509841.1_Missense_Mutation_p.R87T			Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	10										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						GGCAATCATTCTAGATGTGCC	0.393000													9	117					0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116572398	116572398	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr2:116572398C>A	ENST00000410059.1	+	20	2210	c.1730C>A	c.(1729-1731)aCa>aAa	p.T577K	DPP10_ENST00000393147.2_Missense_Mutation_p.T581K|DPP10_ENST00000409163.1_Missense_Mutation_p.T527K|DPP10_ENST00000310323.8_Missense_Mutation_p.T570K	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	577					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CAGCTGGTTACAGATAAGTTC	0.408000													8	96					0.00448238	0.00456643	1	1	0
PPP2R3A	5523	broad.mit.edu	37	3	135801152	135801152	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:135801152G>A	ENST00000264977.3	+	8	3294	c.2677G>A	c.(2677-2679)Gat>Aat	p.D893N	PPP2R3A_ENST00000492624.2_3'UTR|PPP2R3A_ENST00000490467.1_Missense_Mutation_p.D157N|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.D272N	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	893					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCAAATTACAGATTACTTCTC	0.353000													29	681					0	0	1	0	0
IGSF5	150084	broad.mit.edu	37	21	41143078	41143078	+	Silent	SNP	C	C	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr21:41143078C>A	ENST00000380588.4	+	4	757	c.654C>A	c.(652-654)acC>acA	p.T218T	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	218	Ig-like V-type 2.					integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				GCGTGGCTACCTGGAAGAGCC	0.493000													19	76					4.63292e-17	5.22607e-17	1	1	0
XAGE5	170627	broad.mit.edu	37	X	52844131	52844131	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chrX:52844131C>A	ENST00000351072.1	+	4	260	c.194C>A	c.(193-195)gCt>gAt	p.A65D	XAGE5_ENST00000375501.1_Missense_Mutation_p.A65D|XAGE5_ENST00000375503.3_3'UTR|XAGE5_ENST00000445860.2_3'UTR|XAGE5_ENST00000425386.1_Missense_Mutation_p.A65D			Q8WWM1	GAGD5_HUMAN	X antigen family, member 5	65										endometrium(1)|large_intestine(1)|lung(5)|ovary(1)	8						AACCTGGAAGCTGATCTCCAG	0.438000													14	82					9.31168e-06	9.88797e-06	1	1	0
LINC01317	104355287	broad.mit.edu	37	2	33952349	33952349	+	RNA	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr2:33952349C>T	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA																							CAAGGCCAGCCCCAACAGGAA	0.617000													5	15					0	0	1	0	0
RNMT	8731	broad.mit.edu	37	18	13731920	13731920	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr18:13731920C>T	ENST00000383314.2	+	3	644	c.404C>T	c.(403-405)cCt>cTt	p.P135L	RNMT_ENST00000262173.3_Missense_Mutation_p.P135L|RNMT_ENST00000592764.1_Missense_Mutation_p.P135L|RNMT_ENST00000543302.2_Missense_Mutation_p.P135L|RNMT_ENST00000535051.1_Intron|RNMT_ENST00000589866.1_Missense_Mutation_p.P135L			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	135					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						GAGGATGTTCCTGAAAAGCAG	0.323000													11	101					0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41759572	41759572	+	Silent	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:41759572C>G	ENST00000301178.4	+	17	2185	c.1995C>G	c.(1993-1995)acC>acG	p.T665T	AXL_ENST00000359092.3_Silent_p.T656T|AXL_ENST00000593513.1_Silent_p.T397T	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	665	Protein kinase.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						ATCTGAGTACCAAGAGATTCA	0.597000													4	51					0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216288965	216288965	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr2:216288965A>T	ENST00000354785.4	-	8	1489	c.1120T>A	c.(1120-1122)Tgc>Agc	p.C374S	FN1_ENST00000426059.1_Missense_Mutation_p.C374S|FN1_ENST00000336916.4_Missense_Mutation_p.C374S|FN1_ENST00000323926.6_Missense_Mutation_p.C374S|FN1_ENST00000359671.1_Missense_Mutation_p.C374S|FN1_ENST00000446046.1_Missense_Mutation_p.C374S|FN1_ENST00000443816.1_Missense_Mutation_p.C374S|FN1_ENST00000432072.2_Missense_Mutation_p.C374S|FN1_ENST00000421182.1_Missense_Mutation_p.C374S|FN1_ENST00000357867.4_Missense_Mutation_p.C374S|FN1_ENST00000345488.5_Missense_Mutation_p.C374S|FN1_ENST00000357009.2_Missense_Mutation_p.C374S|FN1_ENST00000356005.4_Missense_Mutation_p.C374S|FN1_ENST00000346544.3_Missense_Mutation_p.C374S			P02751	FINC_HUMAN	fibronectin 1	374	Collagen-binding.|Fibronectin type-II 1.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCTGTGGTGCAGGAGTAGAAC	0.478000													8	125					0	0	1	0	0
HDAC6	10013	broad.mit.edu	37	X	48682632	48682632	+	Silent	SNP	A	A	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chrX:48682632A>T	ENST00000334136.5	+	28	3685	c.3507A>T	c.(3505-3507)ggA>ggT	p.G1169G	HDAC6_ENST00000444343.2_Silent_p.G1183G|HDAC6_ENST00000376619.2_Silent_p.G1169G			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	1169					aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GAAATTCTGGACACCCGCTGG	0.582000													10	81					0	0	1	0	0
OR6C1	390321	broad.mit.edu	37	12	55714857	55714857	+	Silent	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr12:55714857C>G	ENST00000379668.2	+	1	512	c.474C>G	c.(472-474)ctC>ctG	p.L158L		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TCCCAGCACTCATGTTGCTTT	0.378000													8	50					0	0	1	0	0
ZNF277	11179	broad.mit.edu	37	7	111977804	111977804	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr7:111977804G>A	ENST00000361822.3	+	9	1018	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	AC004112.4_ENST00000431064.1_RNA	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	297						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						TGATTGGGAAGAACACCCTGC	0.388000													7	130					0	0	1	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138742206	138742206	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr9:138742206T>A	ENST00000389532.4	-	6	974	c.910A>T	c.(910-912)Acc>Tcc	p.T304S	CAMSAP1_ENST00000409386.3_Missense_Mutation_p.T315S|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.T26S	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	304	CH.					cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TCTTCCAAGGTGAGATAAAAA	0.353000													7	129					0	0	1	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47076494	47076494	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr17:47076494C>T	ENST00000290341.3	+	2	533	c.199C>T	c.(199-201)Cgc>Tgc	p.R67C	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.R67C|IGF2BP1_ENST00000515586.1_3'UTR	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	67	RRM 1.				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ACAAGGAAAACGCTTAGAGAT	0.478000													15	106					0	0	1	0	0
ZNF567	163081	broad.mit.edu	37	19	37211198	37211198	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:37211198G>C	ENST00000585696.1	+	3	2709	c.1479G>C	c.(1477-1479)caG>caC	p.Q493H	ZNF567_ENST00000360729.4_Missense_Mutation_p.Q493H|ZNF567_ENST00000588311.1_Missense_Mutation_p.Q493H|ZNF567_ENST00000536254.2_Missense_Mutation_p.Q524H|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000392163.2_Missense_Mutation_p.Q493H			Q8N184	ZN567_HUMAN	zinc finger protein 567	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ATCTACATCAGAGAATTCATA	0.403000													14	65					0	0	1	0	0
CCDC27	148870	broad.mit.edu	37	1	3670730	3670730	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:3670730G>C	ENST00000294600.2	+	2	451	c.367G>C	c.(367-369)Gaa>Caa	p.E123Q		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	123										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GTCCAAAATGGAACTTCGAAG	0.607000													6	216					0	0	1	0	0
TAF5	6877	broad.mit.edu	37	10	105143116	105143116	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr10:105143116T>A	ENST00000369839.3	+	7	1679	c.1656T>A	c.(1654-1656)agT>agA	p.S552R	TAF5_ENST00000351396.4_Missense_Mutation_p.S552R	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	552					histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		CCAGCTTCAGTCCGGATAGGT	0.343000													11	90					0	0	1	0	0
MEA1	4201	broad.mit.edu	37	6	42980224	42980224	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr6:42980224G>A	ENST00000244711.3	-	4	696	c.542C>T	c.(541-543)tCc>tTc	p.S181F		NM_014623.2	NP_055438.1	Q16626	MEA1_HUMAN	male-enhanced antigen 1	181					cell differentiation|male gonad development|spermatogenesis		protein binding			central_nervous_system(1)|large_intestine(3)|lung(1)|skin(1)	6			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCAGGCAGGGGATGCCTGCCG	0.572000													10	304					0	0	1	0	0
PRKAG1	5571	broad.mit.edu	37	12	49399267	49399267	+	Silent	SNP	A	A	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr12:49399267A>G	ENST00000548065.1	-	4	684	c.228T>C	c.(226-228)gaT>gaC	p.D76D	PRKAG1_ENST00000552212.1_Silent_p.D44D|RP11-386G11.5_ENST00000552933.1_RNA|PRKAG1_ENST00000316299.5_Silent_p.D76D|RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000547306.1_Silent_p.D25D|RP11-386G11.5_ENST00000547866.1_RNA|PRKAG1_ENST00000395170.3_5'UTR|RP11-386G11.5_ENST00000552284.1_RNA			P54619	AAKG1_HUMAN	protein kinase, AMP-activated, gamma 1 non-catalytic subunit	76	CBS 1.				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis	cytosol	cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9						GCTTCTTACTATCCCATAAAG	0.438000													11	82					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64682003	64682003	+	Splice_Site	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr14:64682003G>A	ENST00000358025.3	+	107	19563		c.e107-1		SYNE2_ENST00000555002.1_Splice_Site|SYNE2_ENST00000458046.2_Splice_Site|SYNE2_ENST00000554584.1_Intron|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Intron|SYNE2_ENST00000357395.3_Intron|SYNE2_ENST00000344113.4_Intron|SYNE2_ENST00000555022.1_Intron|SYNE2_ENST00000554805.1_Intron	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2						centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTCTTTTTCAGATGTAGAAAT	0.423000													36	188					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12337170	12337170	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:12337170A>T	ENST00000358136.3	+	19	3655	c.3525A>T	c.(3523-3525)ttA>ttT	p.L1175F	VPS13D_ENST00000356315.4_Missense_Mutation_p.L1175F	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	1175					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGCTGAACTTACTGCTTCTTC	0.403000													34	130					0	0	1	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135801206	135801206	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:135801206G>C	ENST00000264977.3	+	8	3348	c.2731G>C	c.(2731-2733)Gat>Cat	p.D911H	PPP2R3A_ENST00000492624.2_3'UTR|PPP2R3A_ENST00000490467.1_Missense_Mutation_p.D175H|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.D290H	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	911					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTGGGAACTAGATACTGATCA	0.378000													48	798					0	0	1	0	0
IGHG4	3503	broad.mit.edu	37	14	106091009	106091009	+	RNA	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr14:106091009C>G	ENST00000390543.2	-	0	787																											CTGCCCATTGCTCTCCCACTC	0.617000													60	381					0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	143516	143516	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr5:143516G>C	ENST00000283426.6	+	3	691	c.641G>C	c.(640-642)aGa>aCa	p.R214T		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	214					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CGTCATGGCAGAGCAGTGGTG	0.627000													8	107					0	0	1	0	0
ABCD4	5826	broad.mit.edu	37	14	74766887	74766887	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr14:74766887C>G	ENST00000356924.4	-	2	266	c.123G>C	c.(121-123)ttG>ttC	p.L41F	ABCD4_ENST00000298816.7_Intron|ABCD4_ENST00000557588.1_Missense_Mutation_p.L41F|ABCD4_ENST00000557554.1_5'UTR	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	41	ABC transmembrane type-1.					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		TCAGGAACATCAAGGCATTTT	0.512000													5	79					0	0	1	0	0
MPEG1	219972	broad.mit.edu	37	11	58978300	58978300	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr11:58978300C>T	ENST00000361050.3	-	1	2124	c.2039G>A	c.(2038-2040)cGg>cAg	p.R680Q		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	680						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				CTTGAACTTCCGGGTGCCGTA	0.562000													7	121					0	0	1	0	0
MAST3	23031	broad.mit.edu	37	19	18256580	18256580	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:18256580G>C	ENST00000262811.5	+	24	2980	c.2980G>C	c.(2980-2982)Gag>Cag	p.E994Q	AC007192.6_ENST00000600364.1_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	994	PDZ.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CCCCGCCCAGGAGGCGGGCCT	0.687000													4	23					0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14188846	14188846	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr7:14188846C>G	ENST00000403951.2	-	26	2744	c.2325G>C	c.(2323-2325)aaG>aaC	p.K775N	DGKB_ENST00000407950.1_Missense_Mutation_p.K767N|DGKB_ENST00000258767.5_Missense_Mutation_p.K775N|DGKB_ENST00000399322.3_Missense_Mutation_p.K775N|DGKB_ENST00000402815.1_Missense_Mutation_p.K774N|DGKB_ENST00000444700.2_Missense_Mutation_p.K756N			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	775					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	GGGCTTGGTTCTTGTGTGTAA	0.413000													24	112					0	0	1	0	0
GPR65	8477	broad.mit.edu	37	14	88478152	88478152	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr14:88478152C>T	ENST00000267549.3	+	2	1519	c.961C>T	c.(961-963)Cgc>Tgc	p.R321C	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	321					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						ACAAAGAAAACGCATACTTTC	0.343000													12	65					0	0	1	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159818733	159818733	+	RNA	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:159818733C>T	ENST00000497452.1	-	0	517																											TAGGAGGGAACGAAGTCACCG	0.507000													29	125					0	0	1	0	0
STARD13	90627	broad.mit.edu	37	13	33859650	33859650	+	Silent	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr13:33859650G>A	ENST00000336934.5	-	1	242	c.126C>T	c.(124-126)agC>agT	p.S42S	STARD13_ENST00000487412.1_5'UTR	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	42					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CTAGAATCCGGCTCATCCTGT	0.493000													5	238					0	0	1	0	0
AOX1	316	broad.mit.edu	37	2	201531426	201531426	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr2:201531426T>A	ENST00000374700.2	+	32	3801	c.3560T>A	c.(3559-3561)aTt>aAt	p.I1187N	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	1187					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	AGAACAGACATTGTCATGGAT	0.383000													15	111					0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55873274	55873274	+	Silent	SNP	T	T	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr11:55873274T>C	ENST00000313503.1	+	1	756	c.756T>C	c.(754-756)taT>taC	p.Y252Y		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CCATCTTTTATAGCACTCTGA	0.368000										HNSCC(53;0.14)			10	132					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508303	37508303	+	Silent	SNP	T	T	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr10:37508303T>C	ENST00000374660.1	+	40	3951	c.3852T>C	c.(3850-3852)ccT>ccC	p.P1284P	ANKRD30A_ENST00000602533.1_Silent_p.P1165P|ANKRD30A_ENST00000361713.1_Silent_p.P1165P			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1221						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GTCAAGAACCTGCTTTCCACA	0.388000													11	98					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70881889	70881889	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr6:70881889G>C	ENST00000322773.4	+	41	2704	c.2602G>C	c.(2602-2604)Gaa>Caa	p.E868Q	COL19A1_ENST00000393344.1_Missense_Mutation_p.E490Q	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	868	Triple-helical region 5 (COL5).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GCCAGGATTAGAAGGATTTCC	0.363000													12	84					0	0	1	0	0
ARRDC1	92714	broad.mit.edu	37	9	140509015	140509015	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr9:140509015C>G	ENST00000371421.4	+	7	864	c.800C>G	c.(799-801)tCt>tGt	p.S267C	ARRDC1_ENST00000491911.1_3'UTR	NM_152285.2	NP_689498.1	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	267										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		GTCCAGGTCTCTCTGAAGGCG	0.627000													4	119					0	0	1	0	0
GRINA	2907	broad.mit.edu	37	8	145065441	145065441	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr8:145065441C>T	ENST00000313269.5	+	2	328	c.50C>T	c.(49-51)cCc>cTc	p.P17L	GRINA_ENST00000395068.4_Missense_Mutation_p.P17L	NM_000837.1	NP_000828.1	Q7Z429	GRINA_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)	17	Pro-rich.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TATCCTCCCCCCAACCCTGGA	0.632000													9	43					0	0	1	0	0
C5orf46	389336	broad.mit.edu	37	5	147276594	147276594	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr5:147276594C>G	ENST00000318315.4	-	3	226	c.226G>C	c.(226-228)Gaa>Caa	p.E76Q	C5orf46_ENST00000510432.1_Intron	NM_206966.2	NP_996849.2	Q6UWT4	CE046_HUMAN	chromosome 5 open reading frame 46	76						extracellular region				NS(1)|lung(1)|prostate(1)	3						TCATCAAATTCCATAAATCCT	0.323000													7	33					0	0	1	0	0
ALOX12B	242	broad.mit.edu	37	17	7983602	7983602	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr17:7983602C>T	ENST00000399413.3	+	2	523	c.283C>T	c.(283-285)Cct>Tct	p.P95S	ALOX12B_ENST00000319144.4_Silent_p.R235R																endometrium(2)	2						TGTCCTTCAGCCTCTTCCACG	0.577000											OREG0024153	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	242					0	0	1	0	0
QRFPR	84109	broad.mit.edu	37	4	122251588	122251588	+	Nonstop_Mutation	SNP	A	A	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr4:122251588A>C	ENST00000334383.5	-	5	806	c.775T>G	c.(775-777)Tga>Gga	p.*259G	QRFPR_ENST00000394427.2_Missense_Mutation_p.I296M			Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	0				VILFLLPLMVMLILYSKIGYELWIKKRVGDGSVLRTIHGKE MSKIAR -> SSSSSCLLW (in Ref. 1; AAL26488).		plasma membrane	neuropeptide Y receptor activity			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						CACTGTATTCAATCATCATAT	0.418000													8	28					0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107353039	107353039	+	Missense_Mutation	SNP	C	C	T	rs150597240		TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr7:107353039C>T	ENST00000265715.3	+	20	2515	c.2291C>T	c.(2290-2292)aCg>aTg	p.T764M	SLC26A4_ENST00000544569.1_Missense_Mutation_p.T351M|SLC26A4_ENST00000541474.1_Missense_Mutation_p.T325M|SLC26A4_ENST00000543100.1_Missense_Mutation_p.T333M	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	764					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						ACAGAGCTGACGGAAGAAGAA	0.323000									Pendred syndrome				4	137					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129781386	129781386	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr6:129781386G>A	ENST00000421865.2	+	49	6958	c.6909G>A	c.(6907-6909)atG>atA	p.M2303I		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2303	Laminin G-like 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTGGCTGCATGGGAGAAACAT	0.388000													12	156					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36897743	36897743	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:36897743T>A	ENST00000429976.2	-	12	3585	c.3338A>T	c.(3337-3339)gAg>gTg	p.E1113V	TRANK1_ENST00000428977.2_Missense_Mutation_p.E563V|TRANK1_ENST00000301807.6_Missense_Mutation_p.E563V			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1113	Glu-rich.				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GGCTTCATACTCCTGCTCATC	0.542000													3	23					0	0	1	0	0
PRKACG	5568	broad.mit.edu	37	9	71628163	71628163	+	Silent	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr9:71628163G>A	ENST00000377276.2	-	1	876	c.846C>T	c.(844-846)ttC>ttT	p.F282F		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	282	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TGAGGTTTCCGAAGCGCTTGG	0.567000													9	131					0	0	1	0	0
METTL8	79828	broad.mit.edu	37	2	172187154	172187154	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr2:172187154C>T	ENST00000375258.3	-	7	990	c.775G>A	c.(775-777)Gat>Aat	p.D259N				B3KW44	B3KW44_HUMAN	methyltransferase like 8	259							methyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	11						AAGCCATCATCACATACATCA	0.423000													5	69					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86468859	86468859	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr7:86468859G>T	ENST00000361669.2	+	4	3128	c.2029G>T	c.(2029-2031)Gct>Tct	p.A677S	GRM3_ENST00000394720.2_Intron|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.A269S|GRM3_ENST00000536043.1_Missense_Mutation_p.A549S	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	677					synaptic transmission	integral to plasma membrane		p.A677T(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CAAGAATGGCGCTCAGAGGCC	0.547000													14	95					3.27435e-08	3.57003e-08	1	1	0
LILRA3	11026	broad.mit.edu	37	19	54803281	54803281	+	Silent	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:54803281G>A	ENST00000391745.1	-	8	763	c.447C>T	c.(445-447)agC>agT	p.S149S	LILRA3_ENST00000391744.3_Silent_p.S132S|LILRA3_ENST00000251390.3_Silent_p.S132S					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCACCACAGGGCTGGGCAGAG	0.567000													35	189					0	0	1	0	0
SRSF4	6429	broad.mit.edu	37	1	29486926	29486926	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:29486926G>A	ENST00000373795.4	-	2	445	c.211C>T	c.(211-213)Cgc>Tgc	p.R71C	SRSF4_ENST00000466448.1_5'UTR|SRSF4_ENST00000546138.1_Missense_Mutation_p.R71C	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	71	RRM 1.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						CGTGGGCCGCGGGCATGCTCA	0.448000													4	110					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72821615	72821615	+	Silent	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr16:72821615G>A	ENST00000268489.5	-	10	11232	c.10560C>T	c.(10558-10560)ggC>ggT	p.G3520G	AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2606G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3520	Poly-Gly.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgccgccgccaccgccgc	0.706000													4	54					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7579485	7579485	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr17:7579485C>A	ENST00000420246.2	-	4	334	c.202G>T	c.(202-204)Gag>Tag	p.E68*	TP53_ENST00000455263.2_Nonsense_Mutation_p.E68*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E68*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E68*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E68*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E68*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	68	Interaction with HRMT1L2.|Interaction with WWOX.		E -> G (in sporadic cancers; somatic mutation).|E -> Q (in a sporadic cancer; 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.E68*(10)|p.0?(8)|p.G59fs*23(3)|p.E68fs*55(2)|p.D48fs*55(1)|p.R65_P71delRMPEAAP(1)|p.E68fs*81(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.E68Q(1)|p.S33fs*23(1)|p.M66fs*80(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)		GGAGCAGCCTCTGGCATTCTG	0.607000		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)			33	204					4.4194e-11	4.88382e-11	1	1	0
MAGEB1	4112	broad.mit.edu	37	X	30269420	30269420	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chrX:30269420C>A	ENST00000378981.3	+	4	1131	c.810C>A	c.(808-810)ttC>ttA	p.F270L	MAGEB1_ENST00000397548.2_Missense_Mutation_p.F270L|MAGEB1_ENST00000397550.1_Missense_Mutation_p.F270L	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	270	MAGE.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						GCTATCAATTCCTATGGGGTC	0.507000													11	135					6.40141e-05	6.73181e-05	1	1	0
MAG	4099	broad.mit.edu	37	19	35801000	35801000	+	Silent	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:35801000C>T	ENST00000361922.4	+	8	1605	c.1455C>T	c.(1453-1455)cgC>cgT	p.R485R	MAG_ENST00000537831.2_Silent_p.R460R|MAG_ENST00000593348.1_3'UTR|MAG_ENST00000392213.3_Silent_p.R485R	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	485	Ig-like C2-type 4.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCCCGCCCCGCGTCATCTGCA	0.697000													24	74					0	0	1	0	0
CCDC132	55610	broad.mit.edu	37	7	92970836	92970836	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr7:92970836C>G	ENST00000544910.1	+	24	2286	c.2066C>G	c.(2065-2067)tCt>tGt	p.S689C	CCDC132_ENST00000305866.5_Missense_Mutation_p.S719C|CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000541136.1_Missense_Mutation_p.S530C|CCDC132_ENST00000535481.1_Missense_Mutation_p.S439C	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	719										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			GTTTTGACATCTGGGGATACG	0.453000													11	101					0	0	1	0	0
SLAMF1	6504	broad.mit.edu	37	1	160604531	160604531	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:160604531G>T	ENST00000302035.6	-	3	921	c.572C>A	c.(571-573)tCc>tAc	p.S191Y	SLAMF1_ENST00000355199.3_Missense_Mutation_p.S191Y|SLAMF1_ENST00000235739.5_Missense_Mutation_p.S191Y|SLAMF1_ENST00000538290.1_Missense_Mutation_p.S191Y	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	191	Ig-like C2-type.				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CAGGAGGTGGGAGCTGTTGGC	0.587000													16	73					4.7546e-09	5.21886e-09	1	1	0
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_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	0.652000	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)			19	87					0	0	1	0	0
KCNAB1	7881	broad.mit.edu	37	3	156175302	156175302	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:156175302G>A	ENST00000302490.8	+	4	1235	c.364G>A	c.(364-366)Gaa>Aaa	p.E122K	KCNAB1_ENST00000389634.5_Missense_Mutation_p.E122K|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000389636.5_Missense_Mutation_p.E140K|KCNAB1_ENST00000490337.1_Missense_Mutation_p.E140K|KCNAB1_ENST00000471742.1_Missense_Mutation_p.E129K	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	140						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TGATACTGCCGAAGTCTATGC	0.473000													20	236					0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135020263	135020263	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr10:135020263G>T	ENST00000304613.3	+	18	3483	c.3462G>T	c.(3460-3462)caG>caT	p.Q1154H	KNDC1_ENST00000368572.2_Missense_Mutation_p.Q1156H|KNDC1_ENST00000368571.2_Missense_Mutation_p.Q1089H			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1154					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		AACTCTTACAGAAGGAAAAGA	0.572000													13	130					3.27435e-08	3.57003e-08	1	1	0
TERT	7015	broad.mit.edu	37	5	1264629	1264629	+	Silent	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr5:1264629G>A	ENST00000310581.5	-	11	2790	c.2733C>T	c.(2731-2733)gaC>gaT	p.D911D	TERT_ENST00000334602.6_Intron|TERT_ENST00000296820.5_3'UTR	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	911	Reverse transcriptase.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCAGGGCCTCGTCTTCTACAG	0.622000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				10	112					0	0	1	0	0
SEMA4D	10507	broad.mit.edu	37	9	91994243	91994243	+	Silent	SNP	G	G	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr9:91994243G>T	ENST00000450295.1	-	16	2741	c.1965C>A	c.(1963-1965)gcC>gcA	p.A655A	SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000422704.2_Silent_p.A655A|SEMA4D_ENST00000438547.2_Silent_p.A655A|SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000356444.2_Silent_p.A655A|SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000455551.2_Intron			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	655					anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						ACAAGGTGGGGGCCACTACGG	0.562000													61	228					1.24741e-17	1.41691e-17	1	1	0
MYOZ2	51778	broad.mit.edu	37	4	120079303	120079303	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr4:120079303C>G	ENST00000307128.5	+	4	586	c.373C>G	c.(373-375)Cca>Gca	p.P125A		NM_016599.4	NP_057683.1	Q9NPC6	MYOZ2_HUMAN	myozenin 2	125							protein phosphatase 2B binding	p.P125S(1)		endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CAACATTGCTCCAGGTAACCA	0.433000													4	102					0	0	1	0	0
CYP2C18	1562	broad.mit.edu	37	10	96484146	96484146	+	Silent	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr10:96484146G>C	ENST00000285979.6	+	7	1204	c.1005G>C	c.(1003-1005)cgG>cgC	p.R335R	CYP2C18_ENST00000339022.5_Silent_p.R276R|CYP2C19_ENST00000464755.1_3'UTR	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		GCAGAAACCGGAGCCCCTGTA	0.483000													5	150					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164908111	164908111	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:164908111G>A	ENST00000475390.1	-	2	951	c.508C>T	c.(508-510)Cgg>Tgg	p.R170W	SLITRK3_ENST00000241274.3_Missense_Mutation_p.R170W			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	170						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CTTAGGTTCCGAAATGCCCCA	0.388000										HNSCC(40;0.11)			15	153					0	0	1	0	0
TSPYL5	85453	broad.mit.edu	37	8	98289592	98289592	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr8:98289592G>C	ENST00000322128.3	-	1	584	c.481C>G	c.(481-483)Cag>Gag	p.Q161E		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	161					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					GCTATGACCTGAGGCCCCCTC	0.642000													18	98					0	0	1	0	0
TBC1D25	4943	broad.mit.edu	37	X	48417605	48417605	+	Silent	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chrX:48417605C>G	ENST00000376771.4	+	5	917	c.576C>G	c.(574-576)gtC>gtG	p.V192V	TBC1D25_ENST00000481090.1_3'UTR|TBC1D25_ENST00000537536.1_5'UTR|TBC1D25_ENST00000427713.1_3'UTR	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	192						intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						GGGAAGATGTCAAGCCCTTCA	0.587000													7	38					0	0	1	0	0
PHAX	51808	broad.mit.edu	37	5	125939445	125939445	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr5:125939445C>G	ENST00000297540.4	+	2	975	c.280C>G	c.(280-282)Cca>Gca	p.P94A	PHAX_ENST00000514725.1_3'UTR	NM_032177.3	NP_115553.2	Q9H814	PHAX_HUMAN	phosphorylated adaptor for RNA export	94	Necessary for interaction with CBP80 (By similarity).				ncRNA metabolic process|protein transport|snRNA export from nucleus|spliceosomal snRNP assembly	Cajal body|cytosol	RNA binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						TCCTCCCAAACCAGAGCCTTT	0.433000													13	131					0	0	1	0	0
HNRNPLL	92906	broad.mit.edu	37	2	38795410	38795410	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr2:38795410C>T	ENST00000449105.2	-	12	1843	c.1504G>A	c.(1504-1506)Gaa>Aaa	p.E502K	HNRNPLL_ENST00000409636.1_Missense_Mutation_p.E497K|HNRNPLL_ENST00000378915.3_Missense_Mutation_p.E468K|HNRNPLL_ENST00000409328.1_Missense_Mutation_p.E468K	NM_138394.3	NP_612403.2			heterogeneous nuclear ribonucleoprotein L-like																		CACTCCCATTCTAATAGCCCA	0.358000													4	163					0	0	1	0	0
PMS2P3	5387	broad.mit.edu	37	7	75157033	75157033	+	RNA	SNP	C	C	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr7:75157033C>A	ENST00000418756.1	-	0	420					NR_028059.1															lung(1)	1						GGGGCCCGGGCCGGGCCTACG	0.721000													7	8					8.12818e-05	8.46578e-05	1	1	0
AKAP9	10142	broad.mit.edu	37	7	91651660	91651660	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr7:91651660G>A	ENST00000359028.2	+	14	4207	c.3982G>A	c.(3982-3984)Gac>Aac	p.D1328N	AKAP9_ENST00000358100.2_Missense_Mutation_p.D1328N|AKAP9_ENST00000356239.3_Missense_Mutation_p.D1316N			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1328					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CAATTTGGAAGACATTGGTAA	0.328000			T	BRAF	papillary thyroid								23	67					0	0	1	0	0
CFHR3	10878	broad.mit.edu	37	1	196748421	196748421	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:196748421C>T	ENST00000471440.2	+	2	262	c.188C>T	c.(187-189)tCa>tTa	p.S63L	CFHR3_ENST00000391985.3_Missense_Mutation_p.S63L|CFHR3_ENST00000367425.4_Missense_Mutation_p.S63L					complement factor H-related 3											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						GAGACTCCTTCAGGAAGTTAC	0.393000													5	66					0	0	1	0	0
HIST1H2BO	8348	broad.mit.edu	37	6	27861360	27861360	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr6:27861360C>G	ENST00000303806.4	+	1	158	c.120C>G	c.(118-120)atC>atG	p.I40M		NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN	histone cluster 1, H2bo	40					nucleosome assembly	nucleosome|nucleus	DNA binding	p.I40M(1)									GTTACTCTATCTACGTGTACA	0.542000													6	207					0	0	1	0	0
GOLGA4	2803	broad.mit.edu	37	3	37366600	37366600	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:37366600G>A	ENST00000361924.2	+	14	3597	c.3223G>A	c.(3223-3225)Gaa>Aaa	p.E1075K	GOLGA4_ENST00000356847.4_Missense_Mutation_p.E1097K|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1075	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	p.E1075K(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGAGGTAGCAGAACTGAAACA	0.363000													5	41					0	0	1	0	0
OR5H14	403273	broad.mit.edu	37	3	97868948	97868948	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:97868948C>A	ENST00000437310.1	+	1	779	c.719C>A	c.(718-720)aCc>aAc	p.T240N		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GCCTTCTCCACCTGTGGAGCT	0.413000													30	80					1.88708e-17	2.13607e-17	1	1	0
PLCH1	23007	broad.mit.edu	37	3	155199085	155199085	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:155199085C>G	ENST00000460012.1	-	23	4997	c.4640G>C	c.(4639-4641)aGa>aCa	p.R1547T	PLCH1_ENST00000340059.7_Missense_Mutation_p.R1585T|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Missense_Mutation_p.R1547T|PLCH1_ENST00000334686.6_Missense_Mutation_p.R1547T|PLCH1_ENST00000494598.1_Intron			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1585					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ATTGCGCACTCTGCTCTGACT	0.498000													15	165					0	0	1	0	0
GBP7	388646	broad.mit.edu	37	1	89618015	89618015	+	Silent	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:89618015C>T	ENST00000294671.2	-	5	699	c.561G>A	c.(559-561)ctG>ctA	p.L187L		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	187						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		CATCTAACTTCAGCTCCAGGG	0.468000													5	122					0	0	1	0	0
OR4C11	219429	broad.mit.edu	37	11	55371596	55371596	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr11:55371596G>C	ENST00000302231.4	-	1	278	c.254C>G	c.(253-255)tCt>tGt	p.S85C		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						TTTCTTTTCAGAGAGAGCATC	0.388000													5	157					0	0	1	0	0
TMEM206	55248	broad.mit.edu	37	1	212560269	212560269	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:212560269C>G	ENST00000261455.4	-	3	444	c.307G>C	c.(307-309)Gtg>Ctg	p.V103L	TMEM206_ENST00000471937.1_5'UTR|TMEM206_ENST00000535273.1_Missense_Mutation_p.V164L	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	103						integral to membrane				breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		TTGTAAGACACAGACATGACA	0.552000													6	244					0	0	1	0	0
TNFAIP3	7128	broad.mit.edu	37	6	138202346	138202346	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr6:138202346G>A	ENST00000237289.4	+	9	2329	c.2263G>A	c.(2263-2265)Gaa>Aaa	p.E755K		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	755	Interaction with NAF1 (By similarity).				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		GCCTGCCCCCGAAGACCCCCC	0.622000			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""								29	158					0	0	1	0	0
OR5M11	219487	broad.mit.edu	37	11	56309881	56309881	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr11:56309881T>C	ENST00000528616.2	-	1	876	c.853A>G	c.(853-855)Aat>Gat	p.N285D		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						ATCAATGGATTAAGTACCGGA	0.393000													10	53					0	0	1	0	0
MTHFD2	10797	broad.mit.edu	37	2	74441282	74441282	+	Silent	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr2:74441282G>A	ENST00000394053.2	+	8	1046	c.966G>A	c.(964-966)aaG>aaA	p.K322K	MTHFD2_ENST00000264090.4_Silent_p.K220K|MTHFD2_ENST00000409804.1_Silent_p.K194K|RP11-287D1.3_ENST00000451608.2_Intron|MTHFD2_ENST00000394050.3_Silent_p.K158K|MTHFD2_ENST00000409601.1_Silent_p.K239K	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	322					folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					NADH(DB00157)|Tetrahydrofolic acid(DB00116)	TGCTAATGAAGAATACCATTA	0.458000													4	142					0	0	1	0	0
CAPN1	823	broad.mit.edu	37	11	64973960	64973960	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr11:64973960G>C	ENST00000527323.1	+	12	1620	c.1380G>C	c.(1378-1380)ttG>ttC	p.L460F	CAPN1_ENST00000279247.6_Missense_Mutation_p.L460F|CAPN1_ENST00000533129.1_Missense_Mutation_p.L460F|CAPN1_ENST00000524773.1_Missense_Mutation_p.L460F|CAPN1_ENST00000533820.1_Missense_Mutation_p.L460F			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	460	Domain III.				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		CCGTACACTTGAAGCGTGACT	0.682000													8	106					0	0	1	0	0
OR6M1	390261	broad.mit.edu	37	11	123676741	123676741	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr11:123676741C>G	ENST00000309154.2	-	1	354	c.317G>C	c.(316-318)gGg>gCg	p.G106A		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		CTCCACCGTCCCCAGAAAGAA	0.493000													6	44					0	0	1	0	0
TMC1	117531	broad.mit.edu	37	9	75435766	75435766	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr9:75435766C>T	ENST00000297784.5	+	20	2312	c.1772C>T	c.(1771-1773)tCc>tTc	p.S591F	TMC1_ENST00000396237.3_Missense_Mutation_p.S591F|TMC1_ENST00000340019.3_Missense_Mutation_p.S591F|TMC1_ENST00000486417.1_3'UTR	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	591					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						AGGATGGGCTCCTTCTTTGCT	0.463000													4	96					0	0	1	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781855	128781855	+	Silent	SNP	C	C	T	rs149327599		TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr11:128781855C>T	ENST00000529694.1	+	2	1063	c.687C>T	c.(685-687)atC>atT	p.I229I	KCNJ5_ENST00000338350.4_Silent_p.I229I|KCNJ5_ENST00000533599.1_Silent_p.I229I	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	229					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.I229I(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	ACTCCCACATCGTGGAGGCCT	0.592000													9	68					0	0	1	0	0
RNF6	6049	broad.mit.edu	37	13	26793680	26793680	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr13:26793680C>G	ENST00000381588.4	-	3	859	c.107G>C	c.(106-108)aGa>aCa	p.R36T	RNF6_ENST00000381570.3_Missense_Mutation_p.R36T|RNF6_ENST00000468480.1_5'UTR|RNF6_ENST00000346166.3_Missense_Mutation_p.R36T|RNF6_ENST00000399762.2_5'UTR	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	36					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		GGCCTCTTCTCTGTGGAGACG	0.418000													21	132					0	0	1	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090406	238090406	+	RNA	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:238090406G>C	ENST00000450451.1	+	0	1912					NR_027247.2																						CTTCTACAATGAGCTGTGCGT	0.567000													9	65					0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41966190	41966190	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr12:41966190G>T	ENST00000298919.7	+	10	1217	c.829G>T	c.(829-831)Ggc>Tgc	p.G277C	PDZRN4_ENST00000539469.2_Missense_Mutation_p.G279C|PDZRN4_ENST00000402685.2_Missense_Mutation_p.G537C			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	537	PDZ 1.						ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AGAAGAAGAAGGCACAACAGA	0.368000													10	51					3.07112e-06	3.28257e-06	1	1	0
GPR37	2861	broad.mit.edu	37	7	124404637	124404637	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr7:124404637C>T	ENST00000303921.2	-	1	1044	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K		NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	132						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CCCAAAGTTTCAGAAGGCTCC	0.662000													18	136					0	0	1	0	0
OR1A1	8383	broad.mit.edu	37	17	3119566	3119566	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr17:3119566A>G	ENST00000304094.1	+	1	652	c.652A>G	c.(652-654)Att>Gtt	p.I218V		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						TGTCTCCTATATTCGAGTCTT	0.473000													35	225					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3789616	3789616	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr16:3789616G>A	ENST00000262367.5	-	25	5052	c.4243C>T	c.(4243-4245)Caa>Taa	p.Q1415*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.Q1377*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1415	Cys/His-rich.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CCGTATTCTTGGACGTGCATT	0.493000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						6	65					0	0	1	0	0
STS	412	broad.mit.edu	37	X	7268167	7268167	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chrX:7268167G>C	ENST00000217961.4	+	10	1837	c.1617G>C	c.(1615-1617)caG>caC	p.Q539H		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	539					female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	GACACACCCAGACCCTGCCAG	0.542000									Ichthyosis				5	93					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72993579	72993579	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr16:72993579C>T	ENST00000268489.5	-	2	1138	c.466G>A	c.(466-468)Gcc>Acc	p.A156T	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	156					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTCCCACAGGCGCCCCCGCCC	0.677000													8	53					0	0	1	0	0
ERCC1	2067	broad.mit.edu	37	19	45920135	45920135	+	Silent	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:45920135G>C	ENST00000300853.3	-	6	1137	c.546C>G	c.(544-546)ctC>ctG	p.L182L	ERCC1_ENST00000340192.7_Silent_p.L182L|ERCC1_ENST00000423698.2_Silent_p.L110L|ERCC1_ENST00000589165.1_Silent_p.L182L|ERCC1_ENST00000591636.1_Silent_p.L182L|ERCC1_ENST00000013807.5_Silent_p.L182L	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	182					mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		CCAGCTCCTTGAGGGCCTGCT	0.527000								Nucleotide excision repair (NER)					6	20					0	0	1	0	0
SNTG1	54212	broad.mit.edu	37	8	51449368	51449368	+	Splice_Site	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr8:51449368G>A	ENST00000522124.1	+	11	1341	c.680_splice	c.e11+1	p.R227_splice	SNTG1_ENST00000517473.1_Splice_Site_p.R227_splice|SNTG1_ENST00000518864.1_Splice_Site_p.R227_splice|SNTG1_ENST00000276467.5_Splice_Site_p.R227_splice	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	227					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GATTTGAGTCGGTGAGTCCGT	0.438000													10	209					0	0	1	0	0
TIGD2	166815	broad.mit.edu	37	4	90034627	90034627	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr4:90034627C>G	ENST00000317005.2	+	1	660	c.502C>G	c.(502-504)Cta>Gta	p.L168V		NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	168	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		aaaagagaatctacaaccaga	0.373000													5	89					0	0	1	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135801125	135801125	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:135801125G>A	ENST00000264977.3	+	8	3267	c.2650G>A	c.(2650-2652)Gaa>Aaa	p.E884K	PPP2R3A_ENST00000492624.2_3'UTR|PPP2R3A_ENST00000490467.1_Missense_Mutation_p.E148K|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.E263K	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	884					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ACTTTTGGAAGAAGAGGAAGA	0.333000													23	614					0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26513478	26513478	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr10:26513478G>A	ENST00000376261.3	+	6	1125	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K	GAD2_ENST00000376248.1_Missense_Mutation_p.E94K|GAD2_ENST00000259271.3_Missense_Mutation_p.E208K	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	208					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	GTTCACCTATGAAATTGCTCC	0.373000													5	66					0	0	1	0	0
LOC101927755	101927755	broad.mit.edu	37	17	58066651	58066651	+	RNA	SNP	C	C	T	rs144367363	by1000genomes	TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr17:58066651C>T	ENST00000586209.1	+	0	158																											ACTGGTAAAGCTGTTTAAGAG	0.333000													3	15					0	0	1	0	0
MEPE	56955	broad.mit.edu	37	4	88766519	88766519	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr4:88766519G>A	ENST00000497649.2	+	6	805	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	MEPE_ENST00000395102.4_Missense_Mutation_p.E198K|MEPE_ENST00000424957.3_Missense_Mutation_p.E167K|MEPE_ENST00000361056.3_Missense_Mutation_p.E167K|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000540395.1_Missense_Mutation_p.E54K|MEPE_ENST00000560249.1_Missense_Mutation_p.E54K			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	167					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		CCTGGGGGAAGAAAACAAAGA	0.408000													15	97					0	0	1	0	0
GUCA1C	9626	broad.mit.edu	37	3	108635040	108635040	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:108635040G>T	ENST00000261047.3	-	3	508	c.376C>A	c.(376-378)Cag>Aag	p.Q126K	GUCA1C_ENST00000393963.3_Missense_Mutation_p.Q126K|GUCA1C_ENST00000471108.1_Missense_Mutation_p.Q126K	NM_005459.3	NP_005450.3	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	126					signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						AGAGTTTGCTGGCCATTGAGG	0.408000													16	177					0.000422831	0.000437597	1	1	0
VPS13A	23230	broad.mit.edu	37	9	79954477	79954477	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr9:79954477C>T	ENST00000360280.3	+	48	6684	c.6424C>T	c.(6424-6426)Cag>Tag	p.Q2142*	VPS13A_ENST00000376636.3_Nonsense_Mutation_p.Q2103*|VPS13A_ENST00000357409.5_Nonsense_Mutation_p.Q2142*|VPS13A_ENST00000376634.4_Nonsense_Mutation_p.Q2142*	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2142					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACATTCAGCCCAGATTTGTAC	0.308000													3	9					0	0	1	0	0
PEAR1	375033	broad.mit.edu	37	1	156873781	156873781	+	Silent	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:156873781C>T	ENST00000338302.3	+	3	288	c.63C>T	c.(61-63)ctC>ctT	p.L21L	PEAR1_ENST00000292357.7_Silent_p.L21L			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	21						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTGGAACTCTCAACCCCAGTG	0.622000													5	108					0	0	1	0	0
DDHD1	80821	broad.mit.edu	37	14	53525264	53525264	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr14:53525264A>T	ENST00000357758.3	-	9	2106	c.1923T>A	c.(1921-1923)agT>agA	p.S641R	DDHD1_ENST00000395606.1_Missense_Mutation_p.S648R|DDHD1_ENST00000323669.5_Missense_Mutation_p.S641R	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	641	DDHD.				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					TATGGTCTTGACTTCCAGTAT	0.393000													29	133					0	0	1	0	0
TLE4	7091	broad.mit.edu	37	9	82335048	82335048	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr9:82335048T>C	ENST00000376520.4	+	17	2602	c.1774T>C	c.(1774-1776)Tgg>Cgg	p.W592R	TLE4_ENST00000376544.3_Missense_Mutation_p.W491R|TLE4_ENST00000376552.2_Missense_Mutation_p.W560R|TLE4_ENST00000265284.6_Missense_Mutation_p.W535R|TLE4_ENST00000376537.4_Missense_Mutation_p.W592R|TLE4_ENST00000376534.4_Missense_Mutation_p.W197R			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TTTGTCCATTTGGGACCTGGC	0.567000													32	55					0	0	1	0	0
SPAG6	9576	broad.mit.edu	37	10	22653828	22653828	+	Silent	SNP	A	A	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr10:22653828A>T	ENST00000376603.2	+	3	538	c.396A>T	c.(394-396)acA>acT	p.T132T	SPAG6_ENST00000376601.1_Silent_p.T56T|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000376624.3_Silent_p.T56T|SPAG6_ENST00000313311.6_Silent_p.T56T|SPAG6_ENST00000538630.1_Silent_p.T31T			O75602	SPAG6_HUMAN	sperm associated antigen 6	56					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						TGGTCCCAACAATTCAACAGA	0.393000													12	92					0	0	1	0	0
NAALADL2	254827	broad.mit.edu	37	3	175473145	175473145	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:175473145G>T	ENST00000454872.1	+	13	2256	c.2128G>T	c.(2128-2130)Gac>Tac	p.D710Y		NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	710					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GATGCTGAATGACATTCTCCA	0.468000													4	43					0.150653	0.150653	1	1	0
CDH23	64072	broad.mit.edu	37	10	73569667	73569667	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr10:73569667C>A	ENST00000224721.6	+	60	8833	c.8828C>A	c.(8827-8829)gCa>gAa	p.A2943E	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.A698E	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2938	Cadherin 27.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CGAGACCTGGCAGGCCACAAC	0.612000													26	139					2.12542e-12	2.3648e-12	1	1	0
CSMD3	114788	broad.mit.edu	37	8	114326972	114326972	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr8:114326972C>G	ENST00000297405.5	-	2	473	c.229G>C	c.(229-231)Gaa>Caa	p.E77Q	CSMD3_ENST00000343508.3_Missense_Mutation_p.E37Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.E77Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.E77Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	77	CUB 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCAGGGCTTTCTATAGTGCCA	0.313000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			42	362					0	0	1	0	0
TGM3	7053	broad.mit.edu	37	20	2315829	2315829	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr20:2315829C>G	ENST00000381458.5	+	11	1773	c.1710C>G	c.(1708-1710)atC>atG	p.I570M		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	570					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	ACAACATGATCCGGATCACAG	0.557000													18	149					0	0	1	0	0
KCNK16	83795	broad.mit.edu	37	6	39284137	39284137	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr6:39284137G>T	ENST00000373229.5	-	5	756	c.743C>A	c.(742-744)gCg>gAg	p.A248E	KCNK16_ENST00000507712.1_Intron|KCNK16_ENST00000437525.2_Missense_Mutation_p.A248E|KCNK16_ENST00000425054.2_Intron|KCNK16_ENST00000373227.4_Intron	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	248						integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.A248V(1)		large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						GAGGATCAGCGCCAGCCACGC	0.642000													4	14					1.024e-07	1.11275e-07	1	1	0
APOB	338	broad.mit.edu	37	2	21234141	21234141	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr2:21234141G>A	ENST00000233242.1	-	26	5726	c.5599C>T	c.(5599-5601)Cgg>Tgg	p.R1867W		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1867				R -> G (in Ref. 4; AAB04636).	cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GTGTTGAGCCGATGGCTAAAC	0.438000													7	133					0	0	1	0	0
ZNF254	9534	broad.mit.edu	37	19	24309791	24309791	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:24309791C>T	ENST00000357002.4	+	4	1104	c.989C>T	c.(988-990)gCa>gTa	p.A330V	ZNF254_ENST00000342944.6_Missense_Mutation_p.A245V	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	330					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				TGTGGCAAAGCATTTATATGG	0.403000													11	73					0	0	1	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657309	72657309	+	RNA	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr7:72657309C>T	ENST00000425256.1	-	0	2602					NR_002164.1																						catcgcgttgcgatgtggagt	0.463000													5	279					0	0	1	0	0
PDE4D	5144	broad.mit.edu	37	5	58652657	58652657	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr5:58652657C>G	ENST00000405755.2	-	1	144	c.16G>C	c.(16-18)Gat>Cat	p.D6H	PDE4D_ENST00000502575.1_Intron|PDE4D_ENST00000546160.1_Intron|PDE4D_ENST00000507116.1_Intron|PDE4D_ENST00000360047.5_Intron|PDE4D_ENST00000502484.2_Intron|PDE4D_ENST00000340635.6_Intron	NM_001197219.1	NP_001184148.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	0					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	CCCAGAGGATCCCAAACAAAA	0.532000													5	32					0	0	1	0	0
VRK3	51231	broad.mit.edu	37	19	50512578	50512578	+	Silent	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:50512578G>A	ENST00000599538.1	-	4	868	c.204C>T	c.(202-204)acC>acT	p.T68T	VRK3_ENST00000377011.2_Intron|VRK3_ENST00000601912.1_Intron|VRK3_ENST00000594948.1_Silent_p.T68T|VRK3_ENST00000593919.1_Silent_p.T68T|VRK3_ENST00000601341.1_Intron|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000316763.3_Silent_p.T68T|VRK3_ENST00000443401.2_Intron|VRK3_ENST00000594092.1_Silent_p.T68T			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	68						nucleus	ATP binding|protein kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		GAGAGGTGACGGTGCTGGACC	0.463000													5	231					0	0	1	0	0
CCS	9973	broad.mit.edu	37	11	66366595	66366595	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr11:66366595G>C	ENST00000533244.1	+	3	562	c.121G>C	c.(121-123)Gat>Cat	p.D41H	CCS_ENST00000310190.4_Missense_Mutation_p.D22H	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN	copper chaperone for superoxide dismutase	41	HMA.				intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals	cytosol|mitochondrial inner membrane|nucleus|soluble fraction	copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding			breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						AGGTGTCCAGGATGTGGAGGT	0.597000													6	74					0	0	1	0	0
IFNA21	3452	broad.mit.edu	37	9	21166339	21166339	+	Silent	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr9:21166339G>A	ENST00000380225.1	-	1	320	c.273C>T	c.(271-273)ttC>ttT	p.F91F		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	91					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CCTTTGTGCTGAAGAGATTGA	0.488000													23	183					0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65179834	65179834	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr18:65179834A>C	ENST00000310045.7	-	2	3515	c.2042T>G	c.(2041-2043)aTg>aGg	p.M681R	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	671						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TGTGGGTTCCATCTGAAAAGT	0.388000													28	62					0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228120747	228120747	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr2:228120747A>T	ENST00000396578.3	+	16	1056	c.894A>T	c.(892-894)aaA>aaT	p.K298N	AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000396588.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	298	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		TGTAGGGAAAACCCGGAAAAG	0.383000													7	54					0	0	1	0	0
SMARCC2	6601	broad.mit.edu	37	12	56571873	56571873	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr12:56571873G>C	ENST00000394023.3	-	15	1420	c.1315C>G	c.(1315-1317)Cat>Gat	p.H439D	SMARCC2_ENST00000550164.1_Missense_Mutation_p.H439D|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Missense_Mutation_p.H439D|SMARCC2_ENST00000267064.4_Missense_Mutation_p.H439D	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	439	SWIRM.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TCAATGGCATGAACACTGCAA	0.488000													6	48					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151927091	151927091	+	Missense_Mutation	SNP	T	T	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr7:151927091T>G	ENST00000355193.2	-	18	3111	c.2893A>C	c.(2893-2895)Agt>Cgt	p.S965R	KMT2C_ENST00000262189.6_Missense_Mutation_p.S965R					lysine (K)-specific methyltransferase 2C																		TGGCCAAAACTGCCACAAACT	0.348000													17	533					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23527470	23527470	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr5:23527470G>A	ENST00000296682.3	+	11	2455	c.2273G>A	c.(2272-2274)cGc>cAc	p.R758H		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	758					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.R758H(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CGGGGCTTTCGCGATAAGTCA	0.572000										HNSCC(3;0.000094)			19	100					0	0	1	0	0
PRPF4B	8899	broad.mit.edu	37	6	4044245	4044245	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr6:4044245G>C	ENST00000337659.6	+	6	1949	c.1849G>C	c.(1849-1851)Gaa>Caa	p.E617Q	PRPF4B_ENST00000538861.1_Missense_Mutation_p.E603Q	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	617						catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				AATGACAGTTGAACAGAATAA	0.403000													13	71					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113266510	113266510	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr8:113266510C>A	ENST00000297405.5	-	63	10326	c.10082G>T	c.(10081-10083)gGa>gTa	p.G3361V	CSMD3_ENST00000343508.3_Missense_Mutation_p.G3321V|CSMD3_ENST00000455883.2_Missense_Mutation_p.G3192V|CSMD3_ENST00000352409.3_Missense_Mutation_p.G3291V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3361	Sushi 27.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTTCTGAGATCCATGCCGAGG	0.358000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			5	246					8.12818e-05	8.46578e-05	1	1	0
GBP5	115362	broad.mit.edu	37	1	89729475	89729475	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:89729475G>A	ENST00000343435.5	-	9	1842	c.1306C>T	c.(1306-1308)Cag>Tag	p.Q436*	GBP5_ENST00000481145.1_5'UTR|RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Nonsense_Mutation_p.Q436*	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	436						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TCTGTTTTCTGAATGAAGAGA	0.433000													28	208					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170068605	170068605	+	Silent	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr2:170068605G>C	ENST00000263816.3	-	37	6438	c.6153C>G	c.(6151-6153)ctC>ctG	p.L2051L		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2051	EGF-like 8.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TATCAGGATTGAGTTTAAATC	0.448000													15	160					0	0	1	0	0
YPEL1	29799	broad.mit.edu	37	22	22057760	22057760	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr22:22057760C>T	ENST00000339468.3	-	4	552	c.169G>A	c.(169-171)Gtg>Atg	p.V57M		NM_013313.3	NP_037445.1	O60688	YPEL1_HUMAN	yippee-like 1 (Drosophila)	57						nucleus				breast(1)|large_intestine(1)|lung(1)	3	Colorectal(54;0.105)					CCGCAGCCCACGTTCACCCTG	0.687000													4	90					0	0	1	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135801131	135801131	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:135801131G>A	ENST00000264977.3	+	8	3273	c.2656G>A	c.(2656-2658)Gaa>Aaa	p.E886K	PPP2R3A_ENST00000492624.2_3'UTR|PPP2R3A_ENST00000490467.1_Missense_Mutation_p.E150K|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.E265K	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	886					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GGAAGAAGAGGAAGATATAAA	0.338000													24	627					0	0	1	0	0
RSPH3	83861	broad.mit.edu	37	6	159403538	159403538	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr6:159403538C>G	ENST00000367069.2	-	5	1311	c.675G>C	c.(673-675)gaG>gaC	p.E225D	RSPH3_ENST00000449822.1_Missense_Mutation_p.E129D|RSPH3_ENST00000297262.3_Missense_Mutation_p.E271D|RSPH3_ENST00000252655.1_Missense_Mutation_p.E367D			Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	367										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		GGTGTCGCCTCTCTTGCTCTT	0.398000													4	116					0	0	1	0	0
NT5E	4907	broad.mit.edu	37	6	86201737	86201737	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr6:86201737G>C	ENST00000257770.3	+	8	1452	c.1403G>C	c.(1402-1404)aGa>aCa	p.R468T	NT5E_ENST00000369651.3_Missense_Mutation_p.R418T	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	468					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	CCTGGAGACAGAGTAGTCAAA	0.423000													27	243					0	0	1	0	0
KCNMB3	27094	broad.mit.edu	37	3	178968832	178968832	+	Silent	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:178968832C>T	ENST00000314235.5	-	1	571	c.60G>A	c.(58-60)acG>acA	p.T20T	KCNMB3_ENST00000497599.1_Intron|KCNMB3_ENST00000485523.1_Intron|KCNMB3_ENST00000392685.2_5'UTR|KCNMB3_ENST00000349697.2_Intron	NM_014407.3	NP_055222.3	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M beta member 3	20					detection of calcium ion|platelet activation|regulation of action potential in neuron	voltage-gated potassium channel complex	calcium-activated potassium channel activity|potassium channel regulator activity			NS(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03)			ACCTGTGTCTCGTGAGCAGGA	0.418000													13	179					0	0	1	0	0
ZNF736	728927	broad.mit.edu	37	7	63808903	63808903	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr7:63808903G>A	ENST00000355095.4	+	5	984	c.662G>A	c.(661-663)aGa>aAa	p.R221K	ZNF736_ENST00000423484.1_Missense_Mutation_p.R221K	NM_001170905.1	NP_001164376.1	B4DX44	ZN736_HUMAN	zinc finger protein 736	221					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|stomach(1)|urinary_tract(1)	9						GAACATAAGAGAGTTCATACT	0.358000													3	11					0	0	1	0	0
TRIM48	79097	broad.mit.edu	37	11	55032682	55032682	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr11:55032682G>T	ENST00000417545.2	+	2	437	c.351G>T	c.(349-351)aaG>aaT	p.K117N		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	101						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AGACAAAGAAGATGTTCTGTG	0.532000													9	92					0.00621372	0.00629091	1	1	0
RTTN	25914	broad.mit.edu	37	18	67727260	67727260	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr18:67727260G>T	ENST00000255674.6	-	36	5052	c.4766C>A	c.(4765-4767)tCa>tAa	p.S1589*	RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1589							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TGGCCGTGGTGATGTACTTTC	0.378000													4	46					1.23904e-05	1.30721e-05	1	1	0
CACNA2D1	781	broad.mit.edu	37	7	81589082	81589082	+	Silent	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr7:81589082C>G	ENST00000356860.3	-	37	3368	c.3030G>C	c.(3028-3030)ggG>ggC	p.G1010G	CACNA2D1_ENST00000535308.1_Silent_p.G222G|CACNA2D1_ENST00000356253.5_Silent_p.G1022G	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	1022						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	ATGGACATGTCCCTTTGCTCT	0.373000													15	59					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41496213	41496213	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr21:41496213G>C	ENST00000400454.1	-	20	4082	c.3605C>G	c.(3604-3606)gCc>gGc	p.A1202G		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1202	Fibronectin type-III 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GACCATGGAGGCTGAGGCCGC	0.587000													20	136					0	0	1	0	0
CLEC16A	23274	broad.mit.edu	37	16	11071202	11071202	+	Silent	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr16:11071202G>A	ENST00000409790.1	+	8	1079	c.849G>A	c.(847-849)ctG>ctA	p.L283L	CLEC16A_ENST00000409552.3_Silent_p.L281L	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	283										breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CTGACCACCTGCTCAACAGGC	0.557000													4	57					0	0	1	0	0
EFCAB13	124989	broad.mit.edu	37	17	45451889	45451889	+	Nonsense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr17:45451889C>G	ENST00000331493.2	+	12	1340	c.929C>G	c.(928-930)tCa>tGa	p.S310*	EFCAB13_ENST00000517484.1_Nonsense_Mutation_p.S214*	NM_152347.4	NP_689560.3			EF-hand calcium binding domain 13																		AGAAAGTTATCAAGTGTAGCA	0.284000													12	125					0	0	1	0	0
NDC80	10403	broad.mit.edu	37	18	2587842	2587842	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr18:2587842A>G	ENST00000261597.4	+	8	865	c.683A>G	c.(682-684)tAc>tGc	p.Y228C		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	228	Interaction with RB1.|Interaction with the N-terminus of CDCA1.|Nuclear localization.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding			NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						TTTTTGGACTACACCATAAAA	0.358000													37	141					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152083709	152083709	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:152083709C>T	ENST00000368804.1	-	2	1983	c.1984G>A	c.(1984-1986)Gag>Aag	p.E662K		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	662	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTCCTCCTCGCGCTTCAGC	0.667000													7	146					0	0	1	0	0
TNFRSF13B	23495	broad.mit.edu	37	17	16843026	16843026	+	Silent	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr17:16843026C>T	ENST00000437538.2	-	4	587	c.579G>A	c.(577-579)gcG>gcA	p.A193A	TNFRSF13B_ENST00000261652.2_Silent_p.A239A|TNFRSF13B_ENST00000579315.1_Intron|TNFRSF13B_ENST00000583789.1_Silent_p.A193A			O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	239					cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity	p.A239A(1)		endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						CCTGCGTGGGCGCCCTGCACT	0.672000									IgA Deficiency, Selective				6	26					0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17746841	17746841	+	Missense_Mutation	SNP	T	T	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chrX:17746841T>G	ENST00000380060.3	+	7	4570	c.4232T>G	c.(4231-4233)tTc>tGc	p.F1411C	NHS_ENST00000398097.3_Missense_Mutation_p.F1255C	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1411						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GAGGGTGTGTTCGTGTCTCCA	0.413000													18	135					0	0	1	0	0
XRN2	22803	broad.mit.edu	37	20	21367541	21367541	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr20:21367541G>A	ENST00000377191.3	+	29	2779	c.2684G>A	c.(2683-2685)cGg>cAg	p.R895Q	XRN2_ENST00000539513.1_Missense_Mutation_p.R841Q|XRN2_ENST00000430571.2_Missense_Mutation_p.R819Q	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	895					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						CCATGGAACCGGATGCTGCAA	0.527000													29	121					0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	210857444	210857444	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:210857444C>G	ENST00000367007.4	-	11	2237	c.2068G>C	c.(2068-2070)Gag>Cag	p.E690Q	KCNH1_ENST00000271751.4_Missense_Mutation_p.E717Q	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	717	Calmodulin-binding.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CGTTCTTCCTCTTCACGTTTC	0.562000													4	98					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97167436	97167436	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr3:97167436T>A	ENST00000389672.5	+	7	1794	c.1756T>A	c.(1756-1758)Tcc>Acc	p.S586T	EPHA6_ENST00000514100.1_5'UTR|EPHA6_ENST00000442602.2_5'UTR|EPHA6_ENST00000502694.1_5'UTR	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	491						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GACCTACTCTTCCACAAGGTC	0.443000													9	111					0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55322163	55322163	+	Silent	SNP	A	A	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr11:55322163A>T	ENST00000314644.2	+	1	381	c.381A>T	c.(379-381)tcA>tcT	p.S127S		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CGTGCTTCTCATCTGTCATCA	0.458000										HNSCC(20;0.049)			45	199					0	0	1	0	0
EMC2	9694	broad.mit.edu	37	8	109482328	109482328	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr8:109482328G>A	ENST00000220853.3	+	7	522	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	EMC2_ENST00000520294.1_3'UTR	NM_014673.3	NP_055488.1			ER membrane protein complex subunit 2																		TGAACTTGCAGAACTTTACAT	0.353000													7	79					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39854292	39854292	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:39854292G>A	ENST00000564288.1	+	58	16555	c.15778G>A	c.(15778-15780)Gaa>Aaa	p.E5260K	MACF1_ENST00000567887.1_Missense_Mutation_p.E5297K|MACF1_ENST00000372915.3_Missense_Mutation_p.E5265K|MACF1_ENST00000289893.4_Missense_Mutation_p.E3700K|MACF1_ENST00000317713.7_Missense_Mutation_p.E3198K|MACF1_ENST00000539005.1_Missense_Mutation_p.E3177K|MACF1_ENST00000545844.1_Missense_Mutation_p.E3198K|MACF1_ENST00000361689.2_Missense_Mutation_p.E3198K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5265					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGTGGGGACCGAAGTGGAAAT	0.428000													11	146					0	0	1	0	0
SERINC5	256987	broad.mit.edu	37	5	79441913	79441913	+	Splice_Site	SNP	T	T	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr5:79441913T>C	ENST00000507668.2	-	11	1388	c.1238_splice	c.e11+1	p.N413_splice	SERINC5_ENST00000512972.2_Splice_Site_p.K413_splice|SERINC5_ENST00000512721.1_Splice_Site_p.N413_splice|SERINC5_ENST00000509193.1_Splice_Site_p.K411_splice	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN	serine incorporator 5	413					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		GGCCACTCACTTGAACCAGTT	0.428000													6	78					0	0	1	0	0
ZNF468	90333	broad.mit.edu	37	19	53344884	53344884	+	Silent	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:53344884G>A	ENST00000595646.1	-	4	783	c.663C>T	c.(661-663)ttC>ttT	p.F221F	ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000390651.4_Silent_p.F168F|ZNF468_ENST00000396409.4_Silent_p.F168F|ZNF468_ENST00000243639.4_3'UTR			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	221					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		TAAAGGATTTGAAGCTCTGTA	0.313000													26	99					0	0	1	0	0
NUSAP1	51203	broad.mit.edu	37	15	41641367	41641367	+	Silent	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr15:41641367G>A	ENST00000260359.6	+	3	498	c.234G>A	c.(232-234)gaG>gaA	p.E78E	NUSAP1_ENST00000560747.1_Silent_p.E78E|NUSAP1_ENST00000450318.1_Silent_p.E78E|NUSAP1_ENST00000558123.1_3'UTR|NUSAP1_ENST00000414849.2_Silent_p.E78E|NUSAP1_ENST00000450592.2_Silent_p.E55E|NUSAP1_ENST00000559596.1_Silent_p.E78E|NUSAP1_ENST00000560177.1_Silent_p.E78E	NM_001243142.1|NM_001243143.1|NM_016359.4|NM_018454.7	NP_001230071.1|NP_001230072.1|NP_057443.2|NP_060924.4	Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	78					cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis	chromosome|cytoplasm|nucleolus	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	13		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		AAGAAGCTGAGAGACAGCCAC	0.438000													6	34					0	0	1	0	0
PRSS35	167681	broad.mit.edu	37	6	84234053	84234053	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr6:84234053C>T	ENST00000536636.1	+	3	1238	c.893C>T	c.(892-894)aCg>aTg	p.T298M	PRSS35_ENST00000369700.3_Missense_Mutation_p.T298M	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	298	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		ATCAGCCCAACGATCAAGAAA	0.483000													35	65					0	0	1	0	0
CEACAM7	1087	broad.mit.edu	37	19	42190886	42190886	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:42190886G>C	ENST00000006724.3	-	2	532	c.331C>G	c.(331-333)Cag>Gag	p.Q111E	CEACAM7_ENST00000599715.1_5'UTR|CEACAM7_ENST00000401731.1_Missense_Mutation_p.Q111E|CEACAM7_ENST00000602225.1_Missense_Mutation_p.Q111E|CEACAM7_ENST00000338196.4_Missense_Mutation_p.Q111E	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	111	Ig-like V-type.					anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		GTGACGTTCTGGATCAGCAGG	0.413000													5	303					0	0	1	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47602086	47602086	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr20:47602086G>A	ENST00000371917.4	+	16	2212	c.2212G>A	c.(2212-2214)Gaa>Aaa	p.E738K		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	738	SEC7.				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CCTACCTGGAGAAGCCCAAAA	0.478000													7	83					0	0	1	0	0
CHRNA9	55584	broad.mit.edu	37	4	40351154	40351154	+	Silent	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr4:40351154C>T	ENST00000310169.2	+	4	760	c.621C>T	c.(619-621)ggC>ggT	p.G207G		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	207					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	AGGTCCATGGCATGCCCGCTG	0.512000													32	271					0	0	1	0	0
CLPB	81570	broad.mit.edu	37	11	72012910	72012910	+	Silent	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr11:72012910G>C	ENST00000294053.3	-	12	1529	c.1356C>G	c.(1354-1356)ctC>ctG	p.L452L	CLPB_ENST00000340729.5_Silent_p.L393L|CLPB_ENST00000543042.1_Silent_p.L251L|CLPB_ENST00000538039.1_Silent_p.L422L|CLPB_ENST00000538021.1_Silent_p.L60L|CLPB_ENST00000437826.2_Silent_p.L407L	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	452					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						CTTCATCAAAGAGCACCACAG	0.562000													5	143					0	0	1	0	0
RNF6	6049	broad.mit.edu	37	13	26788500	26788500	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr13:26788500G>A	ENST00000381588.4	-	5	2271	c.1519C>T	c.(1519-1521)Caa>Taa	p.Q507*	RNF6_ENST00000381570.3_Nonsense_Mutation_p.Q507*|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000346166.3_Nonsense_Mutation_p.Q507*|RNF6_ENST00000399762.2_Nonsense_Mutation_p.Q151*	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	507					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		CCATTTCTTTGAAGTTCTGAC	0.463000													5	92					0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24567822	24567822	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr22:24567822C>T	ENST00000398319.2	+	34	6284	c.5899C>T	c.(5899-5901)Cgc>Tgc	p.R1967C	CABIN1_ENST00000405822.2_Missense_Mutation_p.R1888C|CABIN1_ENST00000485008.1_3'UTR|CABIN1_ENST00000337989.7_Missense_Mutation_p.R392C|CABIN1_ENST00000263119.5_Missense_Mutation_p.R1967C	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1967					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	p.R1967C(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CACCAAGCCTCGCCCTGCACT	0.627000													10	79					0	0	1	0	0
CEP89	84902	broad.mit.edu	37	19	33444555	33444555	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:33444555C>A	ENST00000305768.4	-	4	546	c.458G>T	c.(457-459)aGt>aTt	p.S153I	CEP89_ENST00000590597.1_Missense_Mutation_p.S153I	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	153						centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						CAGGTCATCACTGTGGCCTCC	0.488000													9	591					1.2644e-06	1.36038e-06	1	1	0
APC	324	broad.mit.edu	37	5	112103071	112103071	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr5:112103071G>A	ENST00000457016.1	+	4	786	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	APC_ENST00000508376.2_Missense_Mutation_p.E136K|APC_ENST00000257430.4_Missense_Mutation_p.E136K			P25054	APC_HUMAN	adenomatous polyposis coli	136	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.E136K(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ATATTTAGAAGAACTTGAGAA	0.338000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			10	70					0	0	1	0	0
KRIT1	889	broad.mit.edu	37	7	91852190	91852190	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr7:91852190G>C	ENST00000394507.1	-	14	2140	c.1357C>G	c.(1357-1359)Ctc>Gtc	p.L453V	KRIT1_ENST00000394503.2_Missense_Mutation_p.L405V|KRIT1_ENST00000412043.2_Missense_Mutation_p.L453V|KRIT1_ENST00000340022.2_Missense_Mutation_p.L453V|KRIT1_ENST00000394505.2_Missense_Mutation_p.L453V	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	453	FERM.				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCTTGAGAGAGACGCATTCCT	0.333000													9	79					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91134144	91134144	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chrX:91134144G>C	ENST00000373094.1	+	2	3750	c.2905G>C	c.(2905-2907)Gat>Cat	p.D969H	PCDH11X_ENST00000373088.1_Missense_Mutation_p.D969H|PCDH11X_ENST00000395337.2_Missense_Mutation_p.D969H|PCDH11X_ENST00000361655.2_Missense_Mutation_p.D969H|PCDH11X_ENST00000504220.1_Missense_Mutation_p.D969H|PCDH11X_ENST00000361724.1_Missense_Mutation_p.D969H|PCDH11X_ENST00000373097.1_Missense_Mutation_p.D969H|PCDH11X_ENST00000406881.1_Missense_Mutation_p.D969H|PCDH11X_ENST00000298274.8_Missense_Mutation_p.D969H	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	969					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ACTGCCTCTCGATAACACCTT	0.512000													18	250					0	0	1	0	0
ZNF765	91661	broad.mit.edu	37	19	53912379	53912379	+	Nonstop_Mutation	SNP	A	A	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:53912379A>T	ENST00000396408.3	+	4	1688	c.1571A>T	c.(1570-1572)tAa>tTa	p.*524L	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		CTACACGTGTAATGAGTGTGG	0.378000													5	51					0	0	1	0	0
ARID4B	51742	broad.mit.edu	37	1	235377235	235377235	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr1:235377235C>G	ENST00000264183.3	-	17	2187	c.1690G>C	c.(1690-1692)Gag>Cag	p.E564Q	ARID4B_ENST00000349213.3_Intron|ARID4B_ENST00000366603.2_Missense_Mutation_p.E564Q	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	564	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCAAACTCCTCTTCCTCATTG	0.403000													5	231					0	0	1	0	0
FAM83D	81610	broad.mit.edu	37	20	37580732	37580732	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr20:37580732C>G	ENST00000217429.4	+	4	1458	c.1417C>G	c.(1417-1419)Cag>Gag	p.Q473E		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	443	Ser-rich.				cell division|mitosis	cytoplasm|spindle pole		p.Q473*(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				GACCACTACTCAGACTGACAT	0.468000													7	123					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576576	33576576	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr5:33576576A>T	ENST00000504830.1	-	19	3890	c.3555T>A	c.(3553-3555)aaT>aaA	p.N1185K	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.N1100K	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1185	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CTGGAGCGTCATTTCCAGGTA	0.488000										HNSCC(64;0.19)			39	143					0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	71130575	71130575	+	Silent	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr7:71130575G>A	ENST00000333538.5	+	7	1894	c.1260G>A	c.(1258-1260)ccG>ccA	p.P420P	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	420						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.P420P(2)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GGAACCTGCCGCTGGAGGTAG	0.478000													10	51					0	0	1	0	0
CLPX	10845	broad.mit.edu	37	15	65456381	65456381	+	Nonsense_Mutation	SNP	G	G	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr15:65456381G>C	ENST00000300107.3	-	5	847	c.659C>G	c.(658-660)tCa>tGa	p.S220*		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	220					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						TGGTGTTAATGATGTCTGCTT	0.333000													20	173					0	0	1	0	0
SLC7A6	9057	broad.mit.edu	37	16	68328673	68328673	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr16:68328673G>A	ENST00000566454.1	+	9	1357	c.1088G>A	c.(1087-1089)cGt>cAt	p.R363H	SLC7A6_ENST00000219343.6_Missense_Mutation_p.R363H	NM_001076785.2	NP_001070253.1	Q92536	YLAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 6	363					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|antiporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		CACATTGAGCGTTTTACACCT	0.507000													15	169					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13751222	13751222	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr5:13751222G>A	ENST00000265104.4	-	65	11280	c.11176C>T	c.(11176-11178)Cag>Tag	p.Q3726*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3726	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCCAGTAACTGATCTTCTAGA	0.453000									Kartagener syndrome				10	102					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51828991	51828991	+	Silent	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr15:51828991G>A	ENST00000251076.5	-	12	1973	c.1686C>T	c.(1684-1686)atC>atT	p.I562I	DMXL2_ENST00000449909.3_Silent_p.I562I|DMXL2_ENST00000543779.2_Silent_p.I562I	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	562						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CATACATCATGATATTTTTAC	0.418000													14	71					0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65181440	65181440	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr18:65181440G>T	ENST00000310045.7	-	2	1909	c.436C>A	c.(436-438)Cca>Aca	p.P146T		NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	136						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TTGTCTTCTGGGCATAACAAA	0.423000													20	74					6.33239e-15	7.11848e-15	1	1	0
ZSCAN4	201516	broad.mit.edu	37	19	58189695	58189695	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:58189695A>G	ENST00000318203.5	+	5	1421	c.724A>G	c.(724-726)Aac>Gac	p.N242D		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	242					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAACCCATACAACTCAAAAAG	0.448000													16	73					0	0	1	0	0
HSP90AA1	3320	broad.mit.edu	37	14	102552130	102552130	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr14:102552130G>A	ENST00000334701.7	-	4	1141	c.860C>T	c.(859-861)tCa>tTa	p.S287L	HSP90AA1_ENST00000441629.2_Intron|HSP90AA1_ENST00000216281.8_Missense_Mutation_p.S165L	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	165					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	TCCCCCTGCTGAGGACTCCCA	0.502000													14	92					0	0	1	0	0
SYCP2	10388	broad.mit.edu	37	20	58467456	58467456	+	Silent	SNP	A	A	G			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr20:58467456A>G	ENST00000357552.3	-	24	2178	c.1953T>C	c.(1951-1953)acT>acC	p.T651T	SYCP2_ENST00000371001.2_Silent_p.T651T			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	651					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ATTTTTGTTTAGTAAGTTTTT	0.229000													10	45					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24593382	24593382	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr5:24593382T>A	ENST00000264463.4	-	2	725	c.218A>T	c.(217-219)cAg>cTg	p.Q73L	RP11-116O11.1_ENST00000510391.1_RNA	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	73	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GCCTACGTACTGATAATCAGA	0.348000										HNSCC(23;0.051)			16	127					0	0	1	0	0
AKAP8L	26993	broad.mit.edu	37	19	15514430	15514430	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:15514430C>T	ENST00000397410.4	-	4	282	c.218G>A	c.(217-219)aGc>aAc	p.S73N	AKAP8L_ENST00000595465.1_Intron|AKAP8L_ENST00000595136.1_Intron	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	73						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						TGTGTCAGAGCTAGGCATTTC	0.512000													9	57					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51806687	51806687	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr15:51806687C>T	ENST00000251076.5	-	15	2883	c.2596G>A	c.(2596-2598)Gaa>Aaa	p.E866K	DMXL2_ENST00000449909.3_Missense_Mutation_p.E866K|DMXL2_ENST00000543779.2_Missense_Mutation_p.E866K	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	866						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCCATATCTTCCTTATGTGGT	0.303000													12	79					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117962953	117962953	+	Silent	SNP	C	C	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr12:117962953C>T	ENST00000425217.1	-	14	1890	c.1836G>A	c.(1834-1836)tcG>tcA	p.S612S	KSR2_ENST00000302438.5_Silent_p.S338S|KSR2_ENST00000339824.5_Silent_p.S641S|KSR2_ENST00000545002.1_5'UTR	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	641					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGCTCCGGGCCGAGAGGAGGG	0.582000													10	49					0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87746076	87746076	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr7:87746076A>C	ENST00000398204.4	+	7	877	c.554A>C	c.(553-555)cAt>cCt	p.H185P	ADAM22_ENST00000439864.1_Missense_Mutation_p.H185P|ADAM22_ENST00000398201.4_Missense_Mutation_p.H185P|ADAM22_ENST00000265727.7_Missense_Mutation_p.H185P|ADAM22_ENST00000398209.3_Missense_Mutation_p.H185P|ADAM22_ENST00000315984.7_Missense_Mutation_p.H185P	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	185					cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TTCCATTTTCATTCAGTTTAC	0.363000													9	55					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168104863	168104864	+	Frame_Shift_Ins	INS	-	-	A			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr2:168104863_168104864insA	ENST00000409195.1	+	9	7050_7051	c.6961_6962insA	c.(6961-6963)aaafs	p.K2321fs	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.K2099fs|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.K2321fs|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2146					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GATGTTTCCTGAAAAAAATGGG	0.465													17	152	---	---	---	---					
GRIK2	2898	broad.mit.edu	37	6	102503435	102503436	+	Frame_Shift_Ins	INS	-	-	T			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr6:102503435_102503436insT	ENST00000369138.1	+	15	3032_3033	c.2542_2543insT	c.(2542-2544)aaafs	p.K848fs	GRIK2_ENST00000421544.1_Frame_Shift_Ins_p.K848fs|GRIK2_ENST00000318991.6_Frame_Shift_Ins_p.K848fs|GRIK2_ENST00000413795.1_Frame_Shift_Ins_p.K848fs|GRIK2_ENST00000369137.3_Frame_Shift_Ins_p.K772fs|GRIK2_ENST00000369134.4_Frame_Shift_Ins_p.K799fs	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	848					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	CAAATCCAAAAAAAACGCTCAA	0.342													19	168	---	---	---	---					
RP11-340I6.7	0	broad.mit.edu	37	7	63351248	63351250	+	RNA	DEL	GAG	GAG	-			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr7:63351248_63351250delGAG	ENST00000587736.1	-	0	688																											GAGATGGGGAGAGGAGGAGGAGG	0.581													2	4	---	---	---	---					
TNC	3371	broad.mit.edu	37	9	117797539	117797539	+	Frame_Shift_Del	DEL	G	G	-	rs148674204	byFrequency	TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr9:117797539delG	ENST00000350763.4	-	22	6142	c.5731delC	c.(5731-5733)ggfs	p.R1911fs	TNC_ENST00000535648.1_Frame_Shift_Del_p.R1456fs|TNC_ENST00000423613.2_Frame_Shift_Del_p.R1638fs|TNC_ENST00000345230.3_Frame_Shift_Del_p.R1274fs|TNC_ENST00000542877.1_Frame_Shift_Del_p.R1548fs|TNC_ENST00000341037.4_Frame_Shift_Del_p.R1729fs|TNC_ENST00000537320.1_Frame_Shift_Del_p.R1274fs|TNC_ENST00000340094.3_Frame_Shift_Del_p.R1547fs|TNC_ENST00000346706.3_Frame_Shift_Del_p.R1365fs	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1911	Fibronectin type-III 15.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						ACTGATGCCCGGGGGGGTCGC	0.478													7	205	---	---	---	---					
TCIRG1	10312	broad.mit.edu	37	11	67811329	67811329	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr11:67811329delC	ENST00000265686.3	+	8	870	c.762delC	c.(760-762)ctfs	p.L254fs	TCIRG1_ENST00000532635.1_Frame_Shift_Del_p.L38fs	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	254					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						AGGCCCGCCTCGGGGCCCTGC	0.692													2	4	---	---	---	---					
BORA	79866	broad.mit.edu	37	13	73320117	73320117	+	Frame_Shift_Del	DEL	A	A	-			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr13:73320117delA	ENST00000390667.5	+	9	871	c.774delA	c.(772-774)gcfs	p.A258fs	BORA_ENST00000377815.3_Frame_Shift_Del_p.A188fs	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	258	Ser-rich.				cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding										AGGCTAGTGCAAAAAAATACA	0.383													8	1162	---	---	---	---					
POLDIP2	26073	broad.mit.edu	37	17	26684394	26684395	+	Splice_Site	INS	-	-	G	rs113730440		TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr17:26684394_26684395insG	ENST00000540200.1	-	1	78		c.e1+1		POLDIP2_ENST00000003607.4_5'UTR	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN	polymerase (DNA-directed), delta interacting protein 2							mitochondrial nucleoid|nucleus						all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		AGAGCGGCTTTGCCACCGGGCC	0.762													6	12	---	---	---	---					
SPTBN4	57731	broad.mit.edu	37	19	41018683	41018683	+	Frame_Shift_Del	DEL	A	A	-			TCGA-UF-A7JA-01A-12D-A34J-08	TCGA-UF-A7JA-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9ec516b-fce6-4383-9748-08b48a37185b	e400b9af-1374-4f6d-b82e-ae17e336c9f2	g.chr19:41018683delA	ENST00000352632.3	+	14	2073	c.1987delA	c.(1987-1989)agfs	p.K663fs	SPTBN4_ENST00000344104.3_Frame_Shift_Del_p.K663fs|SPTBN4_ENST00000598249.1_Frame_Shift_Del_p.K663fs|SPTBN4_ENST00000338932.3_Frame_Shift_Del_p.K663fs|SPTBN4_ENST00000595535.1_Frame_Shift_Del_p.K663fs			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	663					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGCGCGCGACAAGGAGCGTCT	0.771													2	4	---	---	---	---					
