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
MTIF2	4528	broad.mit.edu	37	2	55470800	55470800	+	Missense_Mutation	SNP	C	C	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr2:55470800C>A	ENST00000394600.3	-	13	2052	c.1316G>T	c.(1315-1317)aGg>aTg	p.R439M	MTIF2_ENST00000403721.1_Missense_Mutation_p.R439M|MTIF2_ENST00000263629.4_Missense_Mutation_p.R439M	NM_001005369.1	NP_001005369.1	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	439					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						TTCACGTGCCCTTGGCTTTAT	0.363000													4	150					1.23904e-05	1.29667e-05	1	1	0
BLM	641	broad.mit.edu	37	15	91303418	91303418	+	Missense_Mutation	SNP	G	G	C			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr15:91303418G>C	ENST00000355112.3	+	6	1247	c.1129G>C	c.(1129-1131)Gag>Cag	p.E377Q	BLM_ENST00000560509.1_Missense_Mutation_p.E377Q	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	377					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TCATGTGATGGAGCACATCTG	0.328000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				18	36					0	0	1	0	0
POTEM	641455	broad.mit.edu	37	14	20020059	20020059	+	Missense_Mutation	SNP	C	C	T			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr14:20020059C>T	ENST00000551509.1	-	1	213	c.162G>A	c.(160-162)atG>atA	p.M54I		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	54										endometrium(4)|kidney(1)|lung(4)	9						TGAGTGTCTTCATAGCAGAAT	0.617000													30	145					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61528088	61528088	+	Missense_Mutation	SNP	C	C	T			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr2:61528088C>T	ENST00000398571.2	-	29	4202	c.4126G>A	c.(4126-4128)Gag>Aag	p.E1376K		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1376					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ATAGTCACCTCACTATCATCC	0.313000													26	92					0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	20699584	20699584	+	Silent	SNP	C	C	T			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr11:20699584C>T	ENST00000298925.5	+	3	399	c.246C>T	c.(244-246)gcC>gcT	p.A82A	NELL1_ENST00000357134.5_Silent_p.A54A|NELL1_ENST00000325319.5_Silent_p.A54A|NELL1_ENST00000532434.1_Silent_p.A54A			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	54	TSP N-terminal.		R -> Q (in dbSNP:rs8176785).		cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TGCACAATGCCAGCAAAGCAT	0.512000													88	89					0	0	1	0	0
PLLP	51090	broad.mit.edu	37	16	57295921	57295921	+	Missense_Mutation	SNP	T	T	C			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr16:57295921T>C	ENST00000219207.5	-	2	343	c.197A>G	c.(196-198)tAt>tGt	p.Y66C	PLLP_ENST00000569059.1_Intron	NM_015993.2	NP_057077.1	Q9Y342	PLLP_HUMAN	plasmolipin	66	MARVEL.					integral to membrane	ion channel activity			endometrium(1)|prostate(1)	2						CACCCAGCCATAGGCCGGATA	0.577000													47	33					0	0	1	0	0
DNAJA3	9093	broad.mit.edu	37	16	4492322	4492322	+	Missense_Mutation	SNP	C	C	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr16:4492322C>A	ENST00000262375.6	+	5	761	c.684C>A	c.(682-684)ttC>ttA	p.F228L	DNAJA3_ENST00000431375.2_Missense_Mutation_p.F75L|DNAJA3_ENST00000355296.4_Missense_Mutation_p.F228L	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	228					activation of caspase activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein stabilization|response to heat|response to interferon-gamma	cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus	ATP binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|NF-kappaB binding|protein kinase binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						ACAAGGAGTTCACCGTGAACA	0.537000													55	61					1.27334e-21	1.4325e-21	1	1	0
HNRNPA2B1	3181	broad.mit.edu	37	7	26237304	26237304	+	Missense_Mutation	SNP	C	C	G			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr7:26237304C>G	ENST00000354667.4	-	3	259	c.91G>C	c.(91-93)Gaa>Caa	p.E31Q	HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.E19Q	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	31	RRM 1.				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						TCTGTGGTTTCAAAGCTTAAG	0.348000			T	ETV1	prostate								9	33					0	0	1	0	0
KLHL21	9903	broad.mit.edu	37	1	6655436	6655436	+	Missense_Mutation	SNP	G	G	T			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr1:6655436G>T	ENST00000377663.3	-	3	1792	c.1609C>A	c.(1609-1611)Cat>Aat	p.H537N	KLHL21_ENST00000463043.1_Intron|KLHL21_ENST00000377658.4_Intron|KLHL21_ENST00000467612.1_Intron			Q9UJP4	KLH21_HUMAN	kelch-like family member 21	0					anaphase|cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|polar microtubule				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2)	8	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644)		TAATTGAGATGAGACCCACCC	0.463000													5	2					0.014758	0.0149574	1	1	0
RGL2	5863	broad.mit.edu	37	6	33262910	33262910	+	Silent	SNP	G	G	T			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr6:33262910G>T	ENST00000497454.1	-	9	1698	c.1203C>A	c.(1201-1203)ctC>ctA	p.L401L	RGL2_ENST00000444031.2_Silent_p.L319L|RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	401	Ras-GEF.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						TCACCTGCACGAGCAGCTCCC	0.542000													4	9					1	1	1	1	0
TSKS	60385	broad.mit.edu	37	19	50245163	50245163	+	Missense_Mutation	SNP	C	C	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr19:50245163C>A	ENST00000246801.3	-	9	1558	c.1476G>T	c.(1474-1476)caG>caT	p.Q492H	TSKS_ENST00000358830.3_Missense_Mutation_p.Q292H	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	492							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		TGTGTAGCCTCTGACAGCTGG	0.582000													57	87					8.72158e-25	1.00634e-24	1	1	0
BZRAP1	9256	broad.mit.edu	37	17	56400389	56400389	+	Silent	SNP	C	C	G			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr17:56400389C>G	ENST00000355701.3	-	8	1986	c.1116G>C	c.(1114-1116)ctG>ctC	p.L372L	BZRAP1_ENST00000268893.6_Silent_p.L312L|BZRAP1_ENST00000343736.4_Silent_p.L372L	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	372						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCGCTTGTCTCAGCTGCAGTT	0.637000													7	15					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49433394	49433394	+	Nonsense_Mutation	SNP	G	G	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr12:49433394G>A	ENST00000301067.7	-	32	8052	c.8053C>T	c.(8053-8055)Cga>Tga	p.R2685*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.R2415*(2)|p.R2685*(2)									TCTCGTAGTCGCTGGCGCTAT	0.572000													6	33					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGGCCTCCGGTTCATGCC	0.572000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			55	13					0	0	1	0	0
UPRT	139596	broad.mit.edu	37	X	74494186	74494186	+	Missense_Mutation	SNP	G	G	T			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chrX:74494186G>T	ENST00000373379.1	+	1	262	c.97G>T	c.(97-99)Gat>Tat	p.D33Y	UPRT_ENST00000373383.4_Missense_Mutation_p.D33Y|UPRT_ENST00000531704.1_3'UTR			Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	33					nucleoside metabolic process	cytoplasm|nucleus				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						GCGACCTGGCGATCTGATCCT	0.612000													20	0					3.51602e-12	3.84031e-12	1	1	0
SLITRK2	84631	broad.mit.edu	37	X	144906347	144906347	+	Missense_Mutation	SNP	G	G	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chrX:144906347G>A	ENST00000370490.1	+	1	6659	c.2404G>A	c.(2404-2406)Gtt>Att	p.V802I	SLITRK2_ENST00000428560.2_Missense_Mutation_p.V802I|SLITRK2_ENST00000434188.2_Missense_Mutation_p.V802I|SLITRK2_ENST00000447897.2_Missense_Mutation_p.V802I|SLITRK2_ENST00000413937.2_Missense_Mutation_p.V802I			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	802						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CAATAAAACCGTTTTATATGG	0.463000													117	28					0	0	1	0	0
PCOLCE	5118	broad.mit.edu	37	7	100205694	100205694	+	Missense_Mutation	SNP	C	C	G			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr7:100205694C>G	ENST00000223061.5	+	9	1598	c.1318C>G	c.(1318-1320)Caa>Gaa	p.Q440E		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	440					multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GTGCCCCTCTCAACCTGTGCG	0.577000													76	54					0	0	1	0	0
MTX1	4580	broad.mit.edu	37	1	155182338	155182338	+	Missense_Mutation	SNP	G	G	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr1:155182338G>A	ENST00000368376.3	+	5	1040	c.934G>A	c.(934-936)Gag>Aag	p.E312K	MTX1_ENST00000609421.1_Missense_Mutation_p.E163K|MTX1_ENST00000495589.1_3'UTR|MTX1_ENST00000316721.4_Missense_Mutation_p.E281K|RP11-263K19.6_ENST00000455788.1_RNA	NM_002455.3	NP_002446.2	Q13505	MTX1_HUMAN	metaxin 1	312					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCCTGAGGACGAGGAAGAGCT	0.602000													33	19					0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124862827	124862827	+	Missense_Mutation	SNP	G	G	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr12:124862827G>A	ENST00000356219.3	-	19	2278	c.2123C>T	c.(2122-2124)tCg>tTg	p.S708L	NCOR2_ENST00000397355.1_Missense_Mutation_p.S708L|NCOR2_ENST00000404621.1_Missense_Mutation_p.S707L|NCOR2_ENST00000405201.1_Missense_Mutation_p.S708L|NCOR2_ENST00000429285.2_Missense_Mutation_p.S707L|NCOR2_ENST00000404121.2_Missense_Mutation_p.S278L	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	708					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCTCACGCCCGACGCCTCCAT	0.667000													43	76					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18777729	18777729	+	Missense_Mutation	SNP	C	C	T			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr9:18777729C>T	ENST00000380548.4	+	19	3841	c.3502C>T	c.(3502-3504)Cgc>Tgc	p.R1168C		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1168	Ig-like C2-type 2.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CACCATCCTGCGCAAGATCTC	0.662000													9	24					0	0	1	0	0
OSTCP1	202459	broad.mit.edu	37	6	159262780	159262780	+	RNA	SNP	C	C	T			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr6:159262780C>T	ENST00000522287.1	-	0	563					NR_028496.1																						CCGGCAGTTTCATTCTCATGA	0.408000													53	130					0	0	1	0	0
OR5L2	26338	broad.mit.edu	37	11	55595595	55595595	+	Missense_Mutation	SNP	C	C	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr11:55595595C>A	ENST00000378397.1	+	1	901	c.901C>A	c.(901-903)Ctc>Atc	p.L301I		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				GAACAAAGCTCTCAGAAAAGT	0.463000										HNSCC(27;0.073)			18	38					1.33834e-09	1.43393e-09	1	1	0
NEB	4703	broad.mit.edu	37	2	152380907	152380907	+	Missense_Mutation	SNP	C	C	T			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr2:152380907C>T	ENST00000427231.2	-	153	22599	c.22397G>A	c.(22396-22398)cGc>cAc	p.R7466H	NEB_ENST00000604864.1_Missense_Mutation_p.R7466H|NEB_ENST00000172853.10_Missense_Mutation_p.R5765H|NEB_ENST00000397345.3_Missense_Mutation_p.R7466H|NEB_ENST00000603639.1_Missense_Mutation_p.R7466H|NEB_ENST00000409198.1_Missense_Mutation_p.R5765H	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	5765					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCCTTCCTTGCGGTGCTTGGC	0.557000													34	81					0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67130779	67130779	+	Splice_Site	SNP	C	C	G			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr17:67130779C>G	ENST00000284425.2	-	5	739		c.e5+1			NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6						transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CAAGCACTTACTTCTATAATG	0.353000													4	91					0	0	1	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53679759	53679759	+	Missense_Mutation	SNP	C	C	G			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr16:53679759C>G	ENST00000262135.4	-	17	2554	c.2461G>C	c.(2461-2463)Gat>Cat	p.D821H	RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.D821H|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.D821H|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.D821H	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	821	C2 2.				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TCTGCAAAATCAAAAAACTTG	0.418000													58	82					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3841997	3841997	+	Nonsense_Mutation	SNP	T	T	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr16:3841997T>A	ENST00000262367.5	-	5	2124	c.1315A>T	c.(1315-1317)Aag>Tag	p.K439*	CREBBP_ENST00000382070.3_Intron	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	439					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)		TGGTTTCGCTTGTCACTGGCA	0.453000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						36	105					0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	609574	609574	+	Missense_Mutation	SNP	C	C	T			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr11:609574C>T	ENST00000264555.5	+	14	4246	c.4118C>T	c.(4117-4119)tCt>tTt	p.S1373F	PHRF1_ENST00000413872.2_Missense_Mutation_p.S1371F|PHRF1_ENST00000533464.1_Missense_Mutation_p.S1369F|PHRF1_ENST00000416188.2_Missense_Mutation_p.S1372F	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1373							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GACAGCCCCTCTGCGAGTGGG	0.682000													10	2					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66213881	66213881	+	Missense_Mutation	SNP	A	A	G			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr4:66213881A>G	ENST00000273854.3	-	15	3149	c.2549T>C	c.(2548-2550)aTa>aCa	p.I850T	EPHA5_ENST00000511294.1_Missense_Mutation_p.I851T|EPHA5_ENST00000354839.4_Missense_Mutation_p.I828T|EPHA5_ENST00000432638.2_Missense_Mutation_p.I687T	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	850	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TCGGAAAGCTATTGCTTCTGG	0.413000										TSP Lung(17;0.13)			73	21					0	0	1	0	0
ZNF653	115950	broad.mit.edu	37	19	11598432	11598432	+	Silent	SNP	A	A	T			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr19:11598432A>T	ENST00000293771.5	-	4	982	c.846T>A	c.(844-846)ccT>ccA	p.P282P	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						CCACTTGCACAGGCACCGGCA	0.687000													4	94					0	0	1	0	0
LOC100131347	100131347	broad.mit.edu	37	17	37213356	37213356	+	RNA	SNP	G	G	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr17:37213356G>A	ENST00000583447.1	+	0	85					NR_036551.1																						CACCAAGAGTGACAAAACCTT	0.642000													19	23					0	0	1	0	0
GSN	2934	broad.mit.edu	37	9	124083609	124083609	+	Missense_Mutation	SNP	G	G	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr9:124083609G>A	ENST00000373823.3	+	18	2160	c.1255G>A	c.(1255-1257)Gga>Aga	p.G419R	GSN_ENST00000394353.2_Missense_Mutation_p.G430R|GSN_ENST00000449733.1_Missense_Mutation_p.G419R|GSN_ENST00000373808.2_Missense_Mutation_p.G419R|GSN_ENST00000373818.4_Missense_Mutation_p.G470R|GSN_ENST00000341272.2_Missense_Mutation_p.G419R|GSN_ENST00000436847.1_Missense_Mutation_p.G430R|GSN_ENST00000545652.1_Missense_Mutation_p.G427R|GSN_ENST00000412819.1_Missense_Mutation_p.G419R|GSN_ENST00000373807.1_Missense_Mutation_p.G201R			P06396	GELS_HUMAN	gelsolin	470					actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						ACAGTTCTATGGAGGCGACAG	0.542000													24	81					0	0	1	0	0
LPCAT3	10162	broad.mit.edu	37	12	7091887	7091887	+	Missense_Mutation	SNP	G	G	T			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr12:7091887G>T	ENST00000261407.4	-	3	401	c.316C>A	c.(316-318)Cta>Ata	p.L106I		NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	106					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						CGGCCCATTAGTCGAAGGATG	0.507000													17	50					2.94398e-08	3.12451e-08	1	1	0
PHKA1	5255	broad.mit.edu	37	X	71825148	71825148	+	Nonsense_Mutation	SNP	C	C	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chrX:71825148C>A	ENST00000373545.3	-	24	3049	c.2611G>T	c.(2611-2613)Gaa>Taa	p.E871*	PHKA1_ENST00000373542.4_Nonsense_Mutation_p.E930*|PHKA1_ENST00000339490.3_Nonsense_Mutation_p.E930*|PHKA1_ENST00000373539.3_Nonsense_Mutation_p.E930*|PHKA1_ENST00000541944.1_Nonsense_Mutation_p.E871*			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	930					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					TGGGCCAGTTCTGTTGCCATA	0.393000													54	8					1.74971e-23	2.0086e-23	1	1	0
MCM10	55388	broad.mit.edu	37	10	13222580	13222580	+	Silent	SNP	G	G	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr10:13222580G>A	ENST00000378694.1	+	6	978	c.903G>A	c.(901-903)aaG>aaA	p.K301K	MCM10_ENST00000484800.2_Silent_p.K302K|MCM10_ENST00000378714.3_Silent_p.K301K			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	302					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						TTATATTGAAGAAGGTTACGC	0.418000													133	53					0	0	1	0	0
MASP2	10747	broad.mit.edu	37	1	11087114	11087114	+	Missense_Mutation	SNP	C	C	G			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr1:11087114C>G	ENST00000400897.3	-	11	1904	c.1889G>C	c.(1888-1890)aGa>aCa	p.R630T		NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	630	Peptidase S1.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		GCTGTCACCTCTGCAGCTGTC	0.502000													170	58					0	0	1	0	0
ITGB2	3689	broad.mit.edu	37	21	46306331	46306331	+	Silent	SNP	G	G	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr21:46306331G>A	ENST00000397850.2	-	17	2714	c.2262C>T	c.(2260-2262)ttC>ttT	p.F754F	ITGB2_ENST00000397852.1_Silent_p.F754F|ITGB2_ENST00000397854.3_Silent_p.F697F|ITGB2_ENST00000302347.5_Silent_p.F754F|ITGB2_ENST00000355153.4_Silent_p.F754F|ITGB2_ENST00000397857.1_Silent_p.F754F			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	754					apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	TGGCGCTCTTGAAAAGGGGAT	0.542000													41	117					0	0	1	0	0
GCNT2	2651	broad.mit.edu	37	6	10586610	10586610	+	Missense_Mutation	SNP	G	G	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr6:10586610G>A	ENST00000265012.4	+	1	632	c.388G>A	c.(388-390)Gag>Aag	p.E130K	GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000316170.3_Intron	NM_145655.3	NP_663630.2	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	130						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TCACGTGGATGAGAAAGCCCC	0.438000													59	18					0	0	1	0	0
FTMT	94033	broad.mit.edu	37	5	121188173	121188173	+	Missense_Mutation	SNP	A	A	T			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr5:121188173A>T	ENST00000321339.1	+	1	524	c.515A>T	c.(514-516)cAg>cTg	p.Q172L		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	172	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		AACGTGAACCAGTCGTTGCTG	0.527000													47	133					0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79910566	79910566	+	Missense_Mutation	SNP	A	A	G			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr9:79910566A>G	ENST00000360280.3	+	33	3876	c.3616A>G	c.(3616-3618)Aga>Gga	p.R1206G	VPS13A_ENST00000376634.4_Missense_Mutation_p.R1206G|VPS13A_ENST00000357409.5_Missense_Mutation_p.R1206G|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376636.3_Missense_Mutation_p.R1167G	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1206					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						AAGGAGTTCCAGAATGGCACT	0.438000													60	52					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61510942	61510942	+	Silent	SNP	G	G	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr20:61510942G>A	ENST00000266070.4	-	16	6691	c.6366C>T	c.(6364-6366)aaC>aaT	p.N2122N	DIDO1_ENST00000395343.1_Silent_p.N2122N	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2122	Arg-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					ctcggctccagtttcggccGC	0.711000													116	152					0	0	1	0	0
C1orf115	79762	broad.mit.edu	37	1	220870053	220870053	+	Missense_Mutation	SNP	G	G	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr1:220870053G>A	ENST00000294889.5	+	2	967	c.409G>A	c.(409-411)Gtg>Atg	p.V137M		NM_024709.4	NP_078985.3	Q9H7X2	CA115_HUMAN	chromosome 1 open reading frame 115	137						integral to membrane				large_intestine(1)|lung(1)	2				GBM - Glioblastoma multiforme(131;0.0273)		AGCCACCAGCGTGGTATCCTT	0.602000													30	127					0	0	1	0	0
C21orf33	8209	broad.mit.edu	37	21	45563196	45563196	+	Missense_Mutation	SNP	G	G	C			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr21:45563196G>C	ENST00000291577.6	+	6	724	c.631G>C	c.(631-633)Gag>Cag	p.E211Q	C21orf33_ENST00000348499.5_Missense_Mutation_p.E180Q	NM_004649.6	NP_004640	P30042	ES1_HUMAN	chromosome 21 open reading frame 33	211						mitochondrion				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8				STAD - Stomach adenocarcinoma(101;0.168)|Colorectal(79;0.191)		CGGGACCGCAGAGGCCATCAA	0.642000													8	28					0	0	1	0	0
HIST1H2BG	8339	broad.mit.edu	37	6	26216650	26216650	+	Silent	SNP	G	G	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr6:26216650G>A	ENST00000244601.3	-	1	222	c.222C>T	c.(220-222)atC>atT	p.I74I		NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	74					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				CCTCGCCTGCGATGCGTTCGA	0.562000													92	97					0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44574149	44574149	+	Missense_Mutation	SNP	G	G	C			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr7:44574149G>C	ENST00000289547.4	-	6	2118	c.2063C>G	c.(2062-2064)tCc>tGc	p.S688C	NPC1L1_ENST00000546276.1_Missense_Mutation_p.S688C|NPC1L1_ENST00000381160.3_Missense_Mutation_p.S688C|NPC1L1_ENST00000423141.1_Missense_Mutation_p.S688C	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	688	SSD.				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	ACCCAAGTAGGAGAAGAAGCC	0.592000											OREG0018038	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	71	55					0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134911634	134911634	+	Missense_Mutation	SNP	T	T	C			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr3:134911634T>C	ENST00000398015.3	+	11	2469	c.2099T>C	c.(2098-2100)aTg>aCg	p.M700T	EPHB1_ENST00000493838.1_Missense_Mutation_p.M261T	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	700	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						ACAGAGTTCATGGAGAATGGT	0.527000													22	49					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78225326	78225326	+	Missense_Mutation	SNP	C	C	G			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr12:78225326C>G	ENST00000397909.2	+	1	258	c.85C>G	c.(85-87)Ctt>Gtt	p.L29V	NAV3_ENST00000228327.6_Missense_Mutation_p.L29V|NAV3_ENST00000536525.2_Missense_Mutation_p.L29V|NAV3_ENST00000266692.7_Missense_Mutation_p.L29V			Q8IVL0	NAV3_HUMAN	neuron navigator 3	29						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GATACCAAATCTTGGCACTAC	0.463000										HNSCC(70;0.22)			56	159					0	0	1	0	0
ZER1	10444	broad.mit.edu	37	9	131503856	131503856	+	Silent	SNP	G	G	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr9:131503856G>A	ENST00000291900.2	-	11	2101	c.1695C>T	c.(1693-1695)ttC>ttT	p.F565F		NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	565					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						TGAAATTGAGGAACATCTCGC	0.567000													33	98					0	0	1	0	0
FOXJ2	55810	broad.mit.edu	37	12	8192482	8192482	+	Silent	SNP	G	G	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr12:8192482G>A	ENST00000162391.3	+	2	1199	c.54G>A	c.(52-54)ctG>ctA	p.L18L	FOXJ2_ENST00000428177.2_Silent_p.L18L	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	18					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		TCCCCCAGCTGACCCTCCGAG	0.562000													53	106					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42026780	42026780	+	Missense_Mutation	SNP	G	G	C			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr15:42026780G>C	ENST00000219905.7	+	12	4085	c.3904G>C	c.(3904-3906)Gat>Cat	p.D1302H	MGA_ENST00000389936.4_Missense_Mutation_p.D1302H|MGA_ENST00000566586.1_Missense_Mutation_p.D1302H|MGA_ENST00000545763.1_Missense_Mutation_p.D1302H|MGA_ENST00000570161.1_Missense_Mutation_p.D1302H	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1302						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)		GGATGATTCTGATAAATTACA	0.333000													5	18					0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	47846543	47846543	+	Silent	SNP	C	C	T			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr6:47846543C>T	ENST00000339488.4	-	3	2070	c.2037G>A	c.(2035-2037)gtG>gtA	p.V679V		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	679						integral to membrane	hedgehog receptor activity										GAGGGTGGATCACTAGGAAAA	0.468000													20	57					0	0	1	0	0
MORF4L2	9643	broad.mit.edu	37	X	102931422	102931422	+	Silent	SNP	C	C	T	rs141716716		TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chrX:102931422C>T	ENST00000423833.2	-	3	1759	c.534G>A	c.(532-534)gcG>gcA	p.A178A	MORF4L2_ENST00000360458.1_Silent_p.A178A|MORF4L2_ENST00000433176.2_Silent_p.A178A|MORF4L2_ENST00000451301.1_Silent_p.A178A|MORF4L2_ENST00000422154.2_Silent_p.A178A|MORF4L2_ENST00000441076.2_Silent_p.A178A			Q15014	MO4L2_HUMAN	mortality factor 4 like 2	178					chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						CTTCATTAACCGCATATTCCT	0.403000													114	20					0	0	1	0	0
SVIP	258010	broad.mit.edu	37	11	22848837	22848837	+	Silent	SNP	T	T	C			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr11:22848837T>C	ENST00000354193.4	-	3	251	c.135A>G	c.(133-135)caA>caG	p.Q45Q	SVIP_ENST00000533774.1_5'UTR	NM_148893.1	NP_683691.1	Q8NHG7	SVIP_HUMAN	small VCP/p97-interacting protein	45						Golgi membrane|plasma membrane|smooth endoplasmic reticulum membrane				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	3						CTTGCACAGATTGAACATCTA	0.353000													85	140					0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154108407	154108407	+	Missense_Mutation	SNP	C	C	G			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr1:154108407C>G	ENST00000368559.3	-	7	963	c.892G>C	c.(892-894)Gac>Cac	p.D298H	NUP210L_ENST00000271854.3_Missense_Mutation_p.D298H	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	298						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			ACTCTATGGTCTTGCAATTCC	0.413000													12	67					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75851842	75851842	+	Silent	SNP	G	G	C			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr6:75851842G>C	ENST00000322507.8	-	27	5172	c.4863C>G	c.(4861-4863)ctC>ctG	p.L1621L	COL12A1_ENST00000345356.6_Silent_p.L457L|COL12A1_ENST00000483888.2_Silent_p.L1621L|COL12A1_ENST00000416123.2_Silent_p.L1621L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1621	Fibronectin type-III 11.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AGAGGTCTTTGAGGGAAGTGC	0.473000													56	137					0	0	1	0	0
PADI2	11240	broad.mit.edu	37	1	17413113	17413113	+	Missense_Mutation	SNP	G	G	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr1:17413113G>A	ENST00000375486.4	-	7	800	c.737C>T	c.(736-738)gCg>gTg	p.A246V	PADI2_ENST00000375481.1_Missense_Mutation_p.A246V|PADI2_ENST00000444885.2_Missense_Mutation_p.R165W	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	246					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	CAGCAGCTCCGCGGAGCCACC	0.602000													87	28					0	0	1	0	0
GPRC5C	55890	broad.mit.edu	37	17	72436960	72436960	+	Missense_Mutation	SNP	G	G	T			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr17:72436960G>T	ENST00000392627.1	+	2	2306	c.1180G>T	c.(1180-1182)Gtt>Ttt	p.V394F	GPRC5C_ENST00000392629.2_Missense_Mutation_p.V361F|GPRC5C_ENST00000481232.1_Intron|GPRC5C_ENST00000342648.5_Missense_Mutation_p.V34F	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, family C, group 5, member C	349						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						GGATGAGCCGGTTGCAGGTGG	0.557000													29	26					0.000184323	0.000192004	1	1	0
BRD4	23476	broad.mit.edu	37	19	15354223	15354223	+	Missense_Mutation	SNP	C	C	T			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr19:15354223C>T	ENST00000263377.2	-	14	2878	c.2657G>A	c.(2656-2658)cGg>cAg	p.R886Q		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	886					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GGCTGGGGGCCGGGCGGGCTT	0.672000			T	C15orf55	lethal midline carcinoma of young people								12	15					0	0	1	0	0
SUPT5H	6829	broad.mit.edu	37	19	39963695	39963695	+	Silent	SNP	T	T	C			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr19:39963695T>C	ENST00000599117.1	+	24	2566	c.2199T>C	c.(2197-2199)cgT>cgC	p.R733R	SUPT5H_ENST00000432763.2_Silent_p.R733R|SUPT5H_ENST00000402194.2_Silent_p.R729R|SUPT5H_ENST00000359191.6_Silent_p.R729R|SUPT5H_ENST00000598725.1_Silent_p.R733R			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	733	KOW 5.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCACGGCCCGTGTGGAGCTGC	0.667000													11	55					0	0	1	0	0
JPH2	57158	broad.mit.edu	37	20	42815237	42815237	+	Missense_Mutation	SNP	C	C	T			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr20:42815237C>T	ENST00000372980.3	-	1	981	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	JPH2_ENST00000342272.3_Missense_Mutation_p.E37K	NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	37	Gly-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CCAGAGTATTCGCCCTGGCCC	0.627000													44	38					0	0	1	0	0
WDR52	55779	broad.mit.edu	37	3	113128116	113128116	+	Missense_Mutation	SNP	G	G	C			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr3:113128116G>C	ENST00000393845.2	-	7	793	c.727C>G	c.(727-729)Ctg>Gtg	p.L243V	WDR52-AS1_ENST00000498480.1_RNA|WDR52_ENST00000295868.2_Missense_Mutation_p.L243V|WDR52-AS1_ENST00000473329.1_RNA	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	243										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						ACAGAGGCCAGCAAGTTACCG	0.403000													29	88					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192620	132192620	+	Missense_Mutation	SNP	G	G	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr7:132192620G>A	ENST00000359827.3	-	2	1795	c.833C>T	c.(832-834)tCc>tTc	p.S278F	PLXNA4_ENST00000423507.2_Missense_Mutation_p.S278F|PLXNA4_ENST00000378539.5_Missense_Mutation_p.S278F|PLXNA4_ENST00000321063.4_Missense_Mutation_p.S278F			Q9HCM2	PLXA4_HUMAN	plexin A4	278	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CACGAGCTTGGATGTATACAC	0.542000													13	46					0	0	1	0	0
FRG2B	441581	broad.mit.edu	37	10	135440206	135440206	+	Missense_Mutation	SNP	G	G	T			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr10:135440206G>T	ENST00000443774.1	-	1	90	c.41C>A	c.(40-42)tCc>tAc	p.S14Y	FRG2B_ENST00000425520.1_Missense_Mutation_p.S14Y			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	14						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GCACTGGATGGAGGAGCAGTG	0.507000													22	313					2.44723e-14	2.71245e-14	1	1	0
TFPI2	7980	broad.mit.edu	37	7	93519632	93519632	+	Splice_Site	SNP	C	C	T			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr7:93519632C>T	ENST00000222543.5	-	2	401		c.e2-1		GNGT1_ENST00000455502.1_Intron|TFPI2_ENST00000545378.1_Splice_Site	NM_001271003.1|NM_001271004.1|NM_006528.3	NP_001257932.1|NP_001257933.1|NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2						blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			GCGTTATTTCCTGAAGAAGGG	0.582000													14	55					0	0	1	0	0
DOPEY1	23033	broad.mit.edu	37	6	83838783	83838783	+	Missense_Mutation	SNP	A	A	T			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr6:83838783A>T	ENST00000349129.2	+	16	2157	c.1897A>T	c.(1897-1899)Agc>Tgc	p.S633C	DOPEY1_ENST00000237163.5_Missense_Mutation_p.S614C|DOPEY1_ENST00000369739.3_Missense_Mutation_p.S624C	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	633					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CCCAATTGGTAGCACATCCTC	0.502000													35	136					0	0	1	0	0
RPTOR	57521	broad.mit.edu	37	17	78882639	78882639	+	Missense_Mutation	SNP	G	G	T			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr17:78882639G>T	ENST00000306801.3	+	21	2792	c.2430G>T	c.(2428-2430)caG>caT	p.Q810H	RPTOR_ENST00000544334.2_Missense_Mutation_p.Q652H|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	810					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TTTACACTCAGATTTGGAGAG	0.502000													27	356					7.92952e-12	8.61905e-12	1	1	0
FSCN3	29999	broad.mit.edu	37	7	127235724	127235724	+	Missense_Mutation	SNP	G	G	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr7:127235724G>A	ENST00000265825.5	+	2	727	c.508G>A	c.(508-510)Gca>Aca	p.A170T	FSCN3_ENST00000420086.2_Missense_Mutation_p.A36T	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	170						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	p.A170T(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						CTGGGTGGACGCAGCAGTTCC	0.607000													44	46					0	0	1	0	0
OR52N5	390075	broad.mit.edu	37	11	5798938	5798938	+	Missense_Mutation	SNP	T	T	C			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr11:5798938T>C	ENST00000317093.2	-	1	959	c.927A>G	c.(925-927)atA>atG	p.I309M	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		CACTCTTGCGTATCTGTTTTG	0.373000													51	13					0	0	1	0	0
LRIG1	26018	broad.mit.edu	37	3	66434439	66434439	+	Missense_Mutation	SNP	C	C	G			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr3:66434439C>G	ENST00000273261.3	-	14	2571	c.2047G>C	c.(2047-2049)Gct>Cct	p.A683P	LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000383703.3_Intron|SLC25A26_ENST00000536651.1_Intron	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	683	Ig-like C2-type 2.					integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GTGGCATTAGCTGAAATAGAA	0.483000													30	11					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126128690	126128690	+	Silent	SNP	G	G	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr12:126128690G>A	ENST00000299308.3	+	6	1499	c.1491G>A	c.(1489-1491)gtG>gtA	p.V497V	TMEM132B_ENST00000535886.1_Silent_p.V9V	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	497						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		ACACGATTGTGAACTTCACCC	0.507000													18	34					0	0	1	0	0
CHST5	23563	broad.mit.edu	37	16	75563511	75563511	+	Missense_Mutation	SNP	C	C	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr16:75563511C>A	ENST00000336257.3	-	3	2166	c.772G>T	c.(772-774)Gac>Tac	p.D258Y	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Missense_Mutation_p.D264Y	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	258					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						AGGTGAGGGTCGGCCTCCACC	0.736000													31	52					1.08312e-15	1.20645e-15	1	1	0
DNAH1	25981	broad.mit.edu	37	3	52387194	52387194	+	Missense_Mutation	SNP	C	C	T			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr3:52387194C>T	ENST00000420323.2	+	19	3364	c.3103C>T	c.(3103-3105)Cgc>Tgc	p.R1035C		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1035	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGACTGGCTGCGCTGGTCGGA	0.577000													27	4					0	0	1	0	0
GLYATL2	219970	broad.mit.edu	37	11	58605776	58605776	+	Silent	SNP	G	G	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr11:58605776G>A	ENST00000287275.1	-	3	534	c.144C>T	c.(142-144)gcC>gcT	p.A48A	GLYATL2_ENST00000532258.1_Silent_p.A48A|GLYATL2_ENST00000533636.1_5'UTR	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	48						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	AATCTGGCCAGGCATCTACCA	0.458000													21	51					0	0	1	0	0
OR7A10	390892	broad.mit.edu	37	19	14952164	14952164	+	Missense_Mutation	SNP	G	G	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr19:14952164G>A	ENST00000248058.1	-	1	525	c.526C>T	c.(526-528)Cat>Tat	p.H176Y		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					CAGAAAAAATGAGGGATTTCC	0.448000													39	58					0	0	1	0	0
CCT5	22948	broad.mit.edu	37	5	10261841	10261841	+	Missense_Mutation	SNP	G	G	C			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr5:10261841G>C	ENST00000280326.4	+	8	1583	c.1163G>C	c.(1162-1164)aGa>aCa	p.R388T	CCT5_ENST00000515390.1_Missense_Mutation_p.R333T|CCT5_ENST00000503026.1_Missense_Mutation_p.R367T|CCT5_ENST00000515676.1_Missense_Mutation_p.R350T|CCT5_ENST00000506600.1_Missense_Mutation_p.R295T	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	388					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						ATTTTTATTAGAGGAGGAAAT	0.388000													46	122					0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14843085	14843085	+	Silent	SNP	A	A	T			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr18:14843085A>T	ENST00000358984.4	+	33	2994	c.2814A>T	c.(2812-2814)acA>acT	p.T938T		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1023										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ATAAACAAACATTGAGAGCAG	0.299000													3	15					0	0	1	0	0
CCDC9	26093	broad.mit.edu	37	19	47769969	47769969	+	Silent	SNP	C	C	T			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr19:47769969C>T	ENST00000221922.6	+	8	1044	c.822C>T	c.(820-822)atC>atT	p.I274I		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	274										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		GGGAGAAGATCGACCAGGAGC	0.672000													9	7					0	0	1	0	0
DGKZ	8525	broad.mit.edu	37	11	46397158	46397158	+	Silent	SNP	G	G	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr11:46397158G>A	ENST00000454345.1	+	21	2576	c.2451G>A	c.(2449-2451)cgG>cgA	p.R817R	DGKZ_ENST00000395574.3_Silent_p.R595R|DGKZ_ENST00000532868.2_Silent_p.R633R|DGKZ_ENST00000527911.1_Silent_p.R629R|DGKZ_ENST00000421244.2_Silent_p.R629R|DGKZ_ENST00000456247.2_Silent_p.R628R|DGKZ_ENST00000343674.6_Silent_p.R645R|DGKZ_ENST00000528615.1_Silent_p.R407R|DGKZ_ENST00000318201.8_Silent_p.R606R|DGKZ_ENST00000543978.1_Intron	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	817					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CCAAGCGGCGGAGCGCCGCCC	0.682000													5	12					0	0	1	0	0
MTIF3	219402	broad.mit.edu	37	13	28010009	28010009	+	Missense_Mutation	SNP	G	G	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr13:28010009G>A	ENST00000381116.1	-	7	874	c.640C>T	c.(640-642)Ctc>Ttc	p.L214F	MTIF3_ENST00000381120.3_Missense_Mutation_p.L214F|MTIF3_ENST00000461838.1_5'UTR|MTIF3_ENST00000405591.2_Missense_Mutation_p.L214F|MTIF3_ENST00000431572.2_Missense_Mutation_p.L214F			Q9H2K0	IF3M_HUMAN	mitochondrial translational initiation factor 3	214					regulation of translational initiation|ribosome disassembly	mitochondrion	ribosomal small subunit binding|translation initiation factor activity			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)		ATAGTCTGGAGTATTTGATGA	0.378000													56	13					0	0	1	0	0
PPEF1	5475	broad.mit.edu	37	X	18725943	18725943	+	Missense_Mutation	SNP	C	C	T			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chrX:18725943C>T	ENST00000361511.4	+	4	538	c.44C>T	c.(43-45)aCa>aTa	p.T15I	PPEF1_ENST00000543630.1_Missense_Mutation_p.T15I|PPEF1_ENST00000471570.1_3'UTR|PPEF1_ENST00000544635.1_5'UTR|PPEF1_ENST00000349874.5_Missense_Mutation_p.T15I|PPEF1_ENST00000359763.6_Missense_Mutation_p.T15I	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	15					detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					AGATCTGACACATGTGAGTAC	0.423000													34	12					0	0	1	0	0
HSDL2	84263	broad.mit.edu	37	9	115179164	115179164	+	Missense_Mutation	SNP	C	C	T			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr9:115179164C>T	ENST00000398805.3	+	5	666	c.439C>T	c.(439-441)Cat>Tat	p.H147Y	HSDL2_ENST00000262542.7_Missense_Mutation_p.H27Y|HSDL2_ENST00000539114.1_Intron|HSDL2_ENST00000398803.1_Intron|HSDL2_ENST00000488101.1_3'UTR	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	147						peroxisome	oxidoreductase activity|sterol binding			NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						CAAAGTTGCTCATATCCTCAA	0.388000													7	30					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155312380	155312380	+	Missense_Mutation	SNP	C	C	T			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr4:155312380C>T	ENST00000357232.4	-	1	69	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K	DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2						homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TCAGTACTTTCAAACTGCTGA	0.328000													14	4					0	0	1	0	0
ODF2	4957	broad.mit.edu	37	9	131250230	131250230	+	Missense_Mutation	SNP	G	G	T			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr9:131250230G>T	ENST00000434106.3	+	14	1825	c.1462G>T	c.(1462-1464)Gat>Tat	p.D488Y	ODF2_ENST00000372814.3_Missense_Mutation_p.D532Y|ODF2_ENST00000351030.3_Missense_Mutation_p.D483Y|ODF2_ENST00000546203.1_Missense_Mutation_p.D469Y|ODF2_ENST00000444119.2_Missense_Mutation_p.D464Y|ODF2_ENST00000393527.3_Missense_Mutation_p.D464Y|ODF2_ENST00000372791.3_Missense_Mutation_p.D469Y|ODF2_ENST00000393533.2_Missense_Mutation_p.D488Y|ODF2_ENST00000604420.1_Missense_Mutation_p.D488Y|ODF2_ENST00000448249.3_Missense_Mutation_p.D407Y|ODF2_ENST00000372807.5_Missense_Mutation_p.D483Y	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2						cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						GGAAGACCGGGATAGCCTGGT	0.517000													31	16					1.13719e-10	1.23013e-10	1	1	0
SART3	9733	broad.mit.edu	37	12	108930519	108930519	+	Missense_Mutation	SNP	C	C	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr12:108930519C>A	ENST00000228284.3	-	10	1586	c.1352G>T	c.(1351-1353)cGt>cTt	p.R451L	SART3_ENST00000431469.2_Missense_Mutation_p.R415L	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	451					RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						CTCCAAGGCACGAGTAAAGGC	0.473000									Porokeratosis				15	27					0.000308642	0.000318552	1	1	0
C3orf70	285382	broad.mit.edu	37	3	184870595	184870595	+	Missense_Mutation	SNP	G	G	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr3:184870595G>A	ENST00000335012.2	-	1	207	c.17C>T	c.(16-18)tCg>tTg	p.S6L		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	6								p.S6L(2)		breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						CGACGCCGGCGAGGCCGCCGC	0.716000													12	22					0	0	1	0	0
CCL5	6352	broad.mit.edu	37	17	34199431	34199431	+	Missense_Mutation	SNP	G	G	T			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr17:34199431G>T	ENST00000293272.3	-	3	428	c.226C>A	c.(226-228)Cca>Aca	p.P76T	AC015849.2_ENST00000413928.1_RNA|CCL5_ENST00000366113.3_Missense_Mutation_p.P76T	NM_002985.2	NP_002976.2	P13501	CCL5_HUMAN	chemokine (C-C motif) ligand 5	76					activation of phospholipase D activity|cell-cell signaling|cellular protein complex assembly|chemokine-mediated signaling pathway|dendritic cell chemotaxis|eosinophil chemotaxis|immune response|leukocyte cell-cell adhesion|macrophage chemotaxis|negative regulation of T cell apoptosis|negative regulation of viral genome replication|neutrophil activation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell-cell adhesion mediated by integrin|positive regulation of homotypic cell-cell adhesion|positive regulation of innate immune response|positive regulation of macrophage chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of T cell apoptosis|positive regulation of T cell chemotaxis|positive regulation of T cell proliferation|positive regulation of translational initiation|positive regulation of tyrosine phosphorylation of STAT protein|positive regulation of viral genome replication|protein tetramerization|regulation of chronic inflammatory response|response to virus	extracellular space	CCR1 chemokine receptor binding|CCR4 chemokine receptor binding|CCR5 chemokine receptor binding|chemoattractant activity|chemokine activity|chemokine receptor antagonist activity|protein homodimerization activity|protein self-association|receptor signaling protein tyrosine kinase activator activity			breast(1)|kidney(1)|lung(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0183)		TTCTTCTCTGGGTTGGCACAC	0.502000													75	100					7.97268e-31	9.24667e-31	1	1	0
PEG3	5178	broad.mit.edu	37	19	57325345	57325345	+	Missense_Mutation	SNP	C	C	G			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr19:57325345C>G	ENST00000326441.9	-	10	4828	c.4465G>C	c.(4465-4467)Gac>Cac	p.D1489H	ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.D1363H|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.D1489H|PEG3_ENST00000598410.1_Missense_Mutation_p.D1365H|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1489	Glu-rich.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCTTCTGGGTCTTCAATTCCC	0.488000													58	101					0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1497192	1497192	+	Missense_Mutation	SNP	C	C	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr8:1497192C>A	ENST00000421627.2	+	2	467	c.333C>A	c.(331-333)aaC>aaA	p.N111K		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	190					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TCCCGGCCAACCTGCTGGACC	0.687000													4	17					2.56e-06	2.70423e-06	1	1	0
ZNF77	58492	broad.mit.edu	37	19	2934747	2934747	+	Silent	SNP	A	A	C			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr19:2934747A>C	ENST00000314531.4	-	4	470	c.378T>G	c.(376-378)acT>acG	p.T126T		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	126					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAGGTTCGCAGTCTGGCTCA	0.488000													43	71					0	0	1	0	0
FAM81A	145773	broad.mit.edu	37	15	59813563	59813563	+	Missense_Mutation	SNP	G	G	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr15:59813563G>A	ENST00000288228.5	+	9	1280	c.1093G>A	c.(1093-1095)Gag>Aag	p.E365K		NM_152450.2	NP_689663.2	Q8TBF8	FA81A_HUMAN	family with sequence similarity 81, member A	365										endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						GCAGAAGCCAGAGACCCCCAT	0.547000													10	27					0	0	1	0	0
SLC35A3	23443	broad.mit.edu	37	1	100459156	100459156	+	Missense_Mutation	SNP	C	C	G			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr1:100459156C>G	ENST00000465289.1	+	2	438	c.46C>G	c.(46-48)Cag>Gag	p.Q16E	SLC35A3_ENST00000370153.1_Missense_Mutation_p.Q58E|SLC35A3_ENST00000427993.2_Missense_Mutation_p.Q16E|SLC35A3_ENST00000370155.3_Missense_Mutation_p.Q16E	NM_001271684.1	NP_001258613.1	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3	16					UDP-N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity			biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)		TTTGGTCTTTCAGACTACCAG	0.353000													65	19					0	0	1	0	0
NARG2	79664	broad.mit.edu	37	15	60741331	60741331	+	Missense_Mutation	SNP	T	T	C			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr15:60741331T>C	ENST00000261520.4	-	10	2069	c.1835A>G	c.(1834-1836)cAg>cGg	p.Q612R	NARG2_ENST00000439632.1_Missense_Mutation_p.Q475R	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	612						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						TACAGAAGCCTGTCCTGAGGA	0.358000													50	38					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153149749	153149749	+	Missense_Mutation	SNP	G	G	C			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr5:153149749G>C	ENST00000285900.5	+	13	2387	c.2044G>C	c.(2044-2046)Gag>Cag	p.E682Q	GRIA1_ENST00000518142.1_Missense_Mutation_p.E602Q|GRIA1_ENST00000448073.4_Missense_Mutation_p.E692Q|GRIA1_ENST00000521843.2_Missense_Mutation_p.E613Q|GRIA1_ENST00000518783.1_Missense_Mutation_p.E692Q|GRIA1_ENST00000340592.5_Missense_Mutation_p.E682Q	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	682					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGCTGTGTTTGAGAAGATGTG	0.463000													35	106					0	0	1	0	0
OTUD6B	51633	broad.mit.edu	37	8	92086102	92086102	+	Missense_Mutation	SNP	A	A	G			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr8:92086102A>G	ENST00000285420.4	+	3	467	c.368A>G	c.(367-369)aAt>aGt	p.N123S	OTUD6B_ENST00000404789.3_5'UTR	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	93										endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			GTGCTTGAGAATCAGCCACCT	0.348000													9	13					0	0	1	0	0
ITGA3	3675	broad.mit.edu	37	17	48166531	48166531	+	Missense_Mutation	SNP	C	C	T			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr17:48166531C>T	ENST00000007722.7	+	25	3103	c.3103C>T	c.(3103-3105)Cgg>Tgg	p.R1035W	ITGA3_ENST00000320031.8_3'UTR			P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	1032					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						CCACGCAGTGCGGATCCGGGA	0.562000													5	475					0	0	1	0	0
DHX9	1660	broad.mit.edu	37	1	182850427	182850427	+	Missense_Mutation	SNP	G	G	C			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr1:182850427G>C	ENST00000367549.3	+	23	2763	c.2653G>C	c.(2653-2655)Gct>Cct	p.A885P	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	885					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						TACCATTGCTGCTGCTACCTG	0.458000													36	127					0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60688033	60688033	+	Missense_Mutation	SNP	G	G	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr2:60688033G>A	ENST00000335712.6	-	4	2241	c.2014C>T	c.(2014-2016)Ccc>Tcc	p.P672S	BCL11A_ENST00000356842.4_Missense_Mutation_p.P672S|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Missense_Mutation_p.P638S|BCL11A_ENST00000538214.1_Missense_Mutation_p.P638S|BCL11A_ENST00000537768.1_Missense_Mutation_p.P341S	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	672					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CTAAGGAAGGGATCTTTGAGC	0.637000			T	IGH@	B-CLL								68	47					0	0	1	0	0
TIMP4	7079	broad.mit.edu	37	3	12200210	12200210	+	Missense_Mutation	SNP	G	G	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr3:12200210G>A	ENST00000287814.4	-	1	641	c.131C>T	c.(130-132)tCg>tTg	p.S44L	SYN2_ENST00000432424.2_RNA	NM_003256.3	NP_003247.1	Q99727	TIMP4_HUMAN	TIMP metallopeptidase inhibitor 4	44	NTR.						metal ion binding|metalloendopeptidase inhibitor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						ACCAAGTGCCGAGTGGCAGAT	0.667000													48	23					0	0	1	0	0
SERPINE2	5270	broad.mit.edu	37	2	224866633	224866633	+	Silent	SNP	G	G	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr2:224866633G>A	ENST00000447280.2	-	2	321	c.21C>T	c.(19-21)tcC>tcT	p.S7S	SERPINE2_ENST00000409840.3_5'UTR|SERPINE2_ENST00000409304.1_5'UTR|SERPINE2_ENST00000258405.4_5'UTR	NM_001136530.1	NP_001130002.1	P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	0					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CTTCCACCAAGGACGACCTGG	0.428000													18	91					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112677704	112677704	+	Missense_Mutation	SNP	A	A	T			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr12:112677704A>T	ENST00000550722.1	-	33	5043	c.4648T>A	c.(4648-4650)Tgt>Agt	p.C1550S	HECTD4_ENST00000430131.2_Missense_Mutation_p.C1274S|HECTD4_ENST00000377560.5_Missense_Mutation_p.C1524S	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		GGTATGGTACATAAGAGTCCA	0.433000													26	54					0	0	1	0	0
USP15	9958	broad.mit.edu	37	12	62785206	62785206	+	Missense_Mutation	SNP	G	G	C			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr12:62785206G>C	ENST00000280377.5	+	16	2288	c.2230G>C	c.(2230-2232)Gat>Cat	p.D744H	USP15_ENST00000353364.3_Missense_Mutation_p.D715H|USP15_ENST00000393654.3_Missense_Mutation_p.D719H	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	744					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		GCTTAGGCTAGATGGTAAGTA	0.333000													34	71					0	0	1	0	0
TRIM62	55223	broad.mit.edu	37	1	33631078	33631078	+	Missense_Mutation	SNP	C	C	G			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr1:33631078C>G	ENST00000291416.5	-	2	731	c.498G>C	c.(496-498)gaG>gaC	p.E166D	TRIM62_ENST00000485148.1_5'UTR|TRIM62_ENST00000543586.1_Missense_Mutation_p.E45D	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	166						intracellular	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				TCACCTTGGTCTCCGCCAGTT	0.682000													8	3					0	0	1	0	0
GBAP1	2630	broad.mit.edu	37	1	155184410	155184410	+	RNA	SNP	G	G	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr1:155184410G>A	ENST00000486869.1	-	0	1183					NR_002188.2																						CAGTGCCACTGCGTCCGGGTC	0.592000													22	19					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64395370	64395370	+	Nonsense_Mutation	SNP	C	C	T			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr6:64395370C>T	ENST00000262043.3	+	4	2087	c.1747C>T	c.(1747-1749)Caa>Taa	p.Q583*	PHF3_ENST00000393387.1_Nonsense_Mutation_p.Q583*|PHF3_ENST00000509330.1_Nonsense_Mutation_p.Q583*			Q92576	PHF3_HUMAN	PHD finger protein 3	583					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			ATTACAGGATCAAACTTTAGT	0.368000													14	50					0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53669214	53669214	+	Missense_Mutation	SNP	G	G	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr19:53669214G>A	ENST00000600412.1	-	2	449	c.334C>T	c.(334-336)Cat>Tat	p.H112Y	ZNF665_ENST00000396424.3_Missense_Mutation_p.H177Y			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		CATTTATAATGTTTTCCTCGA	0.368000													38	70					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197080654	197080654	+	Silent	SNP	G	G	T			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr2:197080654G>T	ENST00000260983.3	-	28	4724	c.4542C>A	c.(4540-4542)ctC>ctA	p.L1514L	HECW2_ENST00000409111.1_Silent_p.L1158L	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2		HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TACTCCCTCGGAGTGAAGCAA	0.443000													28	55					3.69857e-22	4.1818e-22	1	1	0
OR5K2	402135	broad.mit.edu	37	3	98217146	98217146	+	Missense_Mutation	SNP	G	G	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr3:98217146G>A	ENST00000427338.1	+	1	699	c.622G>A	c.(622-624)Gtc>Atc	p.V208I	CLDND1_ENST00000502288.1_Intron	NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V208I(1)		endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TTCAGTTCAAGTCTTTACCAT	0.378000													41	132					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144879302	144879302	+	Nonsense_Mutation	SNP	G	G	C			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr1:144879302G>C	ENST00000369359.4	-	30	4594	c.4556C>G	c.(4555-4557)tCa>tGa	p.S1519*	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Nonsense_Mutation_p.S1383*|PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.S1339*|PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.S1519*|PDE4DIP_ENST00000369354.3_Nonsense_Mutation_p.S1383*			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1383					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)		ACTTGTAACTGAGAGGGACCG	0.502000			T	PDGFRB	MPD								28	163					0	0	1	0	0
JUNB	3726	broad.mit.edu	37	19	12902990	12902990	+	Silent	SNP	C	C	T			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr19:12902990C>T	ENST00000302754.4	+	1	681	c.405C>T	c.(403-405)ttC>ttT	p.F135F		NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN	jun B proto-oncogene	135						chromatin|nucleus	protein dimerization activity|transcription coactivator activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						AGGAGGGCTTCGCCGACGGCT	0.706000													4	6					0	0	1	0	0
MRPS18A	55168	broad.mit.edu	37	6	43642976	43642976	+	Missense_Mutation	SNP	C	C	T			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr6:43642976C>T	ENST00000372133.3	-	5	420	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	MRPS18A_ENST00000372116.1_Intron	NM_018135.3	NP_060605.1	Q9NVS2	RT18A_HUMAN	mitochondrial ribosomal protein S18A	137					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			kidney(3)|large_intestine(1)	4	all_cancers(18;6.56e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000479)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0102)|OV - Ovarian serous cystadenocarcinoma(102;0.137)			ACAACTCCTTCAGGAAGCCGA	0.557000													60	21					0	0	1	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24565601	24565601	+	Missense_Mutation	SNP	G	G	C			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr20:24565601G>C	ENST00000376862.3	+	3	1223	c.590G>C	c.(589-591)gGc>gCc	p.G197A	SYNDIG1_ENST00000482637.1_3'UTR	NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	197					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						TGGCCTCTGGGCATCGCAGCC	0.607000													95	109					0	0	1	0	0
GUCY2F	2986	broad.mit.edu	37	X	108619345	108619345	+	Missense_Mutation	SNP	T	T	C			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chrX:108619345T>C	ENST00000218006.2	-	18	3493	c.3202A>G	c.(3202-3204)Aag>Gag	p.K1068E		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	1068					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GGAAGGGGCTTCATGAAGCCT	0.423000													212	32					0	0	1	0	0
TMEM169	92691	broad.mit.edu	37	2	216965108	216965108	+	Missense_Mutation	SNP	G	G	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr2:216965108G>A	ENST00000454545.1	+	4	1063	c.737G>A	c.(736-738)cGg>cAg	p.R246Q	TMEM169_ENST00000406027.2_Missense_Mutation_p.R246Q|TMEM169_ENST00000437356.2_Missense_Mutation_p.R246Q|TMEM169_ENST00000295658.4_Missense_Mutation_p.R246Q	NM_001142310.1	NP_001135782.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	246						integral to membrane				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAAGCTGCCCGGGACATGGAG	0.567000													111	83					0	0	1	0	0
NFX1	4799	broad.mit.edu	37	9	33354118	33354118	+	Missense_Mutation	SNP	G	G	C			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr9:33354118G>C	ENST00000379540.3	+	18	2826	c.2764G>C	c.(2764-2766)Gac>Cac	p.D922H	NFX1_ENST00000379521.4_Missense_Mutation_p.D922H	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	922					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		TAAGATAACAGACATGCAGCT	0.378000													4	13					0	0	1	0	0
AP1G2	8906	broad.mit.edu	37	14	24035814	24035814	+	Missense_Mutation	SNP	C	C	T			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr14:24035814C>T	ENST00000308724.5	-	2	1041	c.286G>A	c.(286-288)Gag>Aag	p.E96K	RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Missense_Mutation_p.E96K|AP1G2_ENST00000556277.1_5'UTR	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	96					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		TCGTGCCTCTCATCCAATAGA	0.537000													182	68					0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63721235	63721235	+	Missense_Mutation	SNP	T	T	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr7:63721235T>A	ENST00000421025.1	+	4	459	c.190T>A	c.(190-192)Ttg>Atg	p.L64M	ZNF679_ENST00000255746.4_Missense_Mutation_p.L64M	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	64	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						TAAGCCAGACTTGATCACCTG	0.358000													10	54					0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19553578	19553578	+	Missense_Mutation	SNP	G	G	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr14:19553578G>A	ENST00000409832.3	+	1	214	c.162G>A	c.(160-162)atG>atA	p.M54I		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	54								p.M54I(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						ATTCTGCTATGAAGACACTCA	0.617000													93	397					0	0	1	0	0
LIMA1	51474	broad.mit.edu	37	12	50594585	50594585	+	Missense_Mutation	SNP	C	C	T			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr12:50594585C>T	ENST00000547825.1	-	1	1310	c.41G>A	c.(40-42)tGc>tAc	p.C14Y	LIMA1_ENST00000341247.4_Missense_Mutation_p.C316Y|LIMA1_ENST00000552783.1_Missense_Mutation_p.C156Y|LIMA1_ENST00000552909.1_Missense_Mutation_p.C156Y|LIMA1_ENST00000552823.1_Missense_Mutation_p.C156Y|LIMA1_ENST00000552008.1_5'UTR|LIMA1_ENST00000394943.3_Missense_Mutation_p.C316Y|LIMA1_ENST00000552491.1_Missense_Mutation_p.C14Y	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	316					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						ATGGGTGATGCAGACCTCAGG	0.413000													6	530					0	0	1	0	0
GOLGA2P5	55592	broad.mit.edu	37	12	100551228	100551228	+	RNA	SNP	A	A	T			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr12:100551228A>T	ENST00000397112.4	-	0	1893					NR_036632.1															large_intestine(1)|lung(3)	4						GCGGCTCTGGAGCCAAAATAA	0.547000													52	84					0	0	1	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54640925	54640925	+	Missense_Mutation	SNP	G	G	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr5:54640925G>A	ENST00000230640.5	+	10	1263	c.1009G>A	c.(1009-1011)Gac>Aac	p.D337N	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.D236N	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	337					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				ATTCCAGGGTGACTTCAGAGA	0.358000													25	27					0	0	1	0	0
HDAC5	10014	broad.mit.edu	37	17	42164806	42164806	+	Missense_Mutation	SNP	C	C	T			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr17:42164806C>T	ENST00000225983.6	-	13	2184	c.1861G>A	c.(1861-1863)Gag>Aag	p.E621K	HDAC5_ENST00000393622.2_Missense_Mutation_p.E620K|HDAC5_ENST00000586802.1_Missense_Mutation_p.E620K|HDAC5_ENST00000336057.5_Missense_Mutation_p.E620K			Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	620					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		CCAGGCTCCTCCAAGTCGGGC	0.622000													28	10					0	0	1	0	0
KIAA0355	9710	broad.mit.edu	37	19	34843663	34843663	+	Missense_Mutation	SNP	A	A	C			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr19:34843663A>C	ENST00000299505.6	+	14	3889	c.3016A>C	c.(3016-3018)Agc>Cgc	p.S1006R	AC010504.2_ENST00000591311.1_RNA	NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	1006										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CAGCCCTGGCAGCCAGTGGAA	0.647000													14	32					0	0	1	0	0
C7orf57	136288	broad.mit.edu	37	7	48083119	48083119	+	Missense_Mutation	SNP	C	C	T			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr7:48083119C>T	ENST00000348904.3	+	4	495	c.283C>T	c.(283-285)Cca>Tca	p.P95S	C7orf57_ENST00000420324.1_Missense_Mutation_p.P140S|C7orf57_ENST00000430738.1_Missense_Mutation_p.P140S|C7orf57_ENST00000435376.1_5'UTR|C7orf57_ENST00000539619.1_Missense_Mutation_p.P95S	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	95										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						GAAAGGCTCTCCAGTGGCCTA	0.517000													23	18					0	0	1	0	0
TGM3	7053	broad.mit.edu	37	20	2290921	2290921	+	Silent	SNP	C	C	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr20:2290921C>A	ENST00000381458.5	+	3	342	c.279C>A	c.(277-279)ggC>ggA	p.G93G		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	93					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)	CCAGCAATGGCAATACTCTGA	0.582000													8	295					0.000274275	0.000284387	1	1	0
ECH1	1891	broad.mit.edu	37	19	39321970	39321970	+	Missense_Mutation	SNP	G	G	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr19:39321970G>A	ENST00000221418.4	-	2	471	c.239C>T	c.(238-240)gCc>gTc	p.A80V	AC104534.3_ENST00000594769.1_Missense_Mutation_p.P250S|ECH1_ENST00000597805.1_Intron	NM_001398.2	NP_001389.2			enoyl CoA hydratase 1, peroxisomal											cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6	all_cancers(60;9.36e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			CTTGTTCATGGCATTCCTCTT	0.602000													4	111					0	0	1	0	0
SARDH	1757	broad.mit.edu	37	9	136599224	136599224	+	Silent	SNP	C	C	T			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr9:136599224C>T	ENST00000371872.4	-	2	329	c.72G>A	c.(70-72)ggG>ggA	p.G24G	SARDH_ENST00000422262.2_Intron|SARDH_ENST00000439388.1_Silent_p.G24G|SARDH_ENST00000298628.5_Silent_p.G24G	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	24					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GGTTGCATGGCCCCATGCCCC	0.677000													12	15					0	0	1	0	0
LRRC6	23639	broad.mit.edu	37	8	133637551	133637551	+	Missense_Mutation	SNP	A	A	T			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr8:133637551A>T	ENST00000519595.1	-	6	901	c.803T>A	c.(802-804)aTg>aAg	p.M268K	LRRC6_ENST00000518642.1_Missense_Mutation_p.M268K|LRRC6_ENST00000250173.1_Missense_Mutation_p.M268K|LRRC6_ENST00000520446.1_5'UTR			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	268						cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TTGTTTTTCCATGTGTCTAAG	0.363000													20	22					0	0	1	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175833	143175833	+	Missense_Mutation	SNP	C	C	G			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr7:143175833C>G	ENST00000408916.1	+	1	868	c.868C>G	c.(868-870)Ctt>Gtt	p.L290V	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	290					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CAACCTCAAGCTTCGAAGCGT	0.498000													19	48					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32638764	32638764	+	Missense_Mutation	SNP	G	G	C			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr21:32638764G>C	ENST00000286827.3	-	5	996	c.525C>G	c.(523-525)atC>atG	p.I175M	TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Missense_Mutation_p.I175M	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	175					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CCTCCCGCCAGATGTCTGCAG	0.517000													45	128					0	0	1	0	0
TXLNB	167838	broad.mit.edu	37	6	139597983	139597983	+	Missense_Mutation	SNP	T	T	C			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr6:139597983T>C	ENST00000358430.3	-	3	732	c.500A>G	c.(499-501)aAg>aGg	p.K167R	RP11-445F6.2_ENST00000441249.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	167						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		AGCATACTTCTTGAATAAAAA	0.368000													7	45					0	0	1	0	0
FAM65A	79567	broad.mit.edu	37	16	67576191	67576191	+	Missense_Mutation	SNP	G	G	C			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr16:67576191G>C	ENST00000540839.3	+	14	1782	c.1562G>C	c.(1561-1563)gGc>gCc	p.G521A	FAM65A_ENST00000379312.3_Missense_Mutation_p.G505A|FAM65A_ENST00000422602.2_Missense_Mutation_p.G521A|FAM65A_ENST00000428437.2_Missense_Mutation_p.G515A|CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000042381.4_Missense_Mutation_p.G501A			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	505	Pro-rich.					cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CTGGACCCTGGCCACTCTGCC	0.602000													91	124					0	0	1	0	0
SH3BP1	23616	broad.mit.edu	37	22	38040915	38040915	+	Silent	SNP	G	G	C			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr22:38040915G>C	ENST00000599616.1	+	7	534	c.534G>C	c.(532-534)ctG>ctC	p.L178L	SH3BP1_ENST00000442465.2_Silent_p.L242L|SH3BP1_ENST00000357436.4_Silent_p.L242L|SH3BP1_ENST00000336738.5_Silent_p.L242L|SH3BP1_ENST00000495174.1_3'UTR|Z83844.1_ENST00000456099.1_RNA			Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	242	BAR.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					GCAGGTCACTGAGCTCGCTGG	0.627000													17	17					0	0	1	0	0
C1orf110	339512	broad.mit.edu	37	1	162829299	162829299	+	Silent	SNP	C	C	T			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr1:162829299C>T	ENST00000367912.2	-	2	312	c.138G>A	c.(136-138)ctG>ctA	p.L46L	C1orf110_ENST00000367910.1_Silent_p.L46L|C1orf110_ENST00000367911.2_Silent_p.L42L			Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110											endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						GCTCCCAGGTCAGCAATTTCA	0.507000													16	11					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41062014	41062014	+	Silent	SNP	T	T	G			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr19:41062014T>G	ENST00000352632.3	+	25	5195	c.5109T>G	c.(5107-5109)tcT>tcG	p.S1703S	SPTBN4_ENST00000595535.1_Silent_p.S1703S|SPTBN4_ENST00000598249.1_Silent_p.S1703S|SPTBN4_ENST00000392025.1_Silent_p.S446S|SPTBN4_ENST00000338932.3_Silent_p.S1703S|SPTBN4_ENST00000392023.1_Silent_p.S379S			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1703					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)			GGCGGCAGTCTCAGGTGGACC	0.662000													9	16					0	0	1	0	0
ZBTB33	10009	broad.mit.edu	37	X	119387401	119387401	+	Missense_Mutation	SNP	G	G	T			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chrX:119387401G>T	ENST00000326624.2	+	2	359	c.131G>T	c.(130-132)cGg>cTg	p.R44L	ZBTB33_ENST00000557385.1_Missense_Mutation_p.R44L	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	44	BTB.|Interaction with NCOR1.|Self-association (By similarity).				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						CGAAAATTCCGGGCTCACAAG	0.453000													5	253					0.00307968	0.00313542	1	1	0
FCHO2	115548	broad.mit.edu	37	5	72333035	72333035	+	Missense_Mutation	SNP	G	G	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr5:72333035G>A	ENST00000430046.2	+	10	1023	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K	FCHO2_ENST00000512348.1_Missense_Mutation_p.E270K|FCHO2_ENST00000287761.6_Missense_Mutation_p.E303K|FCHO2_ENST00000341845.6_Missense_Mutation_p.E303K	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	303										cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		AAAAGATGCAGAATCTGTGTA	0.249000													9	39					0	0	1	0	0
SNAI2	6591	broad.mit.edu	37	8	49832849	49832849	+	Silent	SNP	G	G	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr8:49832849G>A	ENST00000396822.1	-	3	588	c.231C>T	c.(229-231)tcC>tcT	p.S77S	SNAI2_ENST00000020945.1_Silent_p.S77S			O43623	SNAI2_HUMAN	snail family zinc finger 2	77					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				AGGAGTATCCGGAAAGAGGAG	0.567000													4	213					0	0	1	0	0
VPS54	51542	broad.mit.edu	37	2	64160958	64160958	+	Missense_Mutation	SNP	T	T	C			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr2:64160958T>C	ENST00000409558.4	-	12	1706	c.1552A>G	c.(1552-1554)Ata>Gta	p.I518V	VPS54_ENST00000272322.4_Missense_Mutation_p.I530V|VPS54_ENST00000354504.3_Missense_Mutation_p.I377V	NM_001005739.1|NM_016516.2	NP_001005739.1|NP_057600.2	Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)						protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						TCAACTGCTATAGGTGTTAGC	0.428000													42	39					0	0	1	0	0
ZNF445	353274	broad.mit.edu	37	3	44489378	44489378	+	Missense_Mutation	SNP	T	T	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr3:44489378T>A	ENST00000425708.2	-	7	2126	c.1785A>T	c.(1783-1785)aaA>aaT	p.K595N	ZNF445_ENST00000396077.2_Missense_Mutation_p.K595N			P59923	ZN445_HUMAN	zinc finger protein 445	595					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		AGTCAAAGAGTTTCTCCCCAC	0.438000													59	23					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157997948	157997948	+	Missense_Mutation	SNP	C	C	G			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr7:157997948C>G	ENST00000389413.3	-	4	398	c.295G>C	c.(295-297)Gac>Cac	p.D99H	PTPRN2_ENST00000389416.4_Missense_Mutation_p.D82H|PTPRN2_ENST00000389418.4_Missense_Mutation_p.D99H|PTPRN2_ENST00000409483.1_Missense_Mutation_p.D61H|PTPRN2_ENST00000404321.2_Missense_Mutation_p.D122H	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	99						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TGAGTATAGTCATCCTGCCAC	0.458000													18	9					0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87379623	87379623	+	Splice_Site	SNP	C	C	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr10:87379623C>A	ENST00000327946.7	-	14	2446		c.e14+1		GRID1_ENST00000536331.1_Splice_Site	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1							cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CCCAAGCCTACCTCTGGGAGA	0.537000										Multiple Myeloma(13;0.14)			17	11					3.41278e-10	3.67405e-10	1	1	0
ZNF208	7757	broad.mit.edu	37	19	22154573	22154573	+	Missense_Mutation	SNP	T	T	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr19:22154573T>A	ENST00000397126.4	-	4	3411	c.3263A>T	c.(3262-3264)gAa>gTa	p.E1088V	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GCCACATTCTTCACATTTGTA	0.428000													35	63					0	0	1	0	0
GALNT8	26290	broad.mit.edu	37	12	4835995	4835995	+	Splice_Site	SNP	G	G	T			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr12:4835995G>T	ENST00000252318.2	+	2	846	c.509G>T	c.(508-510)aGa>aTa	p.R170I	RP11-234B24.6_ENST00000544741.2_3'UTR	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	170						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						CGAGACTACAGGTGGGATGAA	0.562000													35	43					1.03484e-13	1.1358e-13	1	1	0
RP11-24M17.5	0	broad.mit.edu	37	15	76073378	76073378	+	RNA	SNP	C	C	T			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr15:76073378C>T	ENST00000395215.3	+	0	571																											CGGGCTCTCTCTGCTGTGTCT	0.562000													32	67					0	0	1	0	0
REG1A	5967	broad.mit.edu	37	2	79348720	79348720	+	Silent	SNP	C	C	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr2:79348720C>A	ENST00000233735.1	+	3	200	c.97C>A	c.(97-99)Cgg>Agg	p.R33R		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	33					positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	p.R33G(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						GCCCCAGGCCCGGATCAGCTG	0.522000													195	180					2.35329e-91	2.7722e-91	1	1	0
CCDC88A	55704	broad.mit.edu	37	2	55543247	55543247	+	Silent	SNP	C	C	G			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr2:55543247C>G	ENST00000436346.1	-	22	4591	c.3750G>C	c.(3748-3750)ctG>ctC	p.L1250L	AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000600219.1_RNA|CCDC88A_ENST00000336838.6_Silent_p.L1249L|CCDC88A_ENST00000263630.8_Silent_p.L1250L|AC012358.8_ENST00000608103.1_RNA|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000413716.2_Silent_p.L1249L	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1250					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						AGGTATGATTCAGCCTATAAT	0.249000													7	11					0	0	1	0	0
HS3ST3B1	9953	broad.mit.edu	37	17	14204871	14204871	+	Silent	SNP	C	C	G			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr17:14204871C>G	ENST00000360954.2	+	1	472	c.36C>G	c.(34-36)ctC>ctG	p.L12L		NM_006041.1	NP_006032.1	Q9Y662	HS3SB_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1	12					heparan sulfate proteoglycan biosynthetic process, enzymatic modification	Golgi membrane|integral to plasma membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			large_intestine(3)|lung(3)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)		GATCTTGCCTCGATGTCCCCG	0.726000													8	7					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	48934194	48934194	+	Nonsense_Mutation	SNP	C	C	T			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr13:48934194C>T	ENST00000267163.4	+	7	787	c.649C>T	c.(649-651)Cag>Tag	p.Q217*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	217					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(6)|p.Q217*(4)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GATTTCATTTCAGTTAATGCT	0.308000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			47	25					0	0	1	0	0
HDAC5	10014	broad.mit.edu	37	17	42164893	42164893	+	Missense_Mutation	SNP	C	C	G			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr17:42164893C>G	ENST00000225983.6	-	13	2097	c.1774G>C	c.(1774-1776)Gag>Cag	p.E592Q	HDAC5_ENST00000393622.2_Missense_Mutation_p.E591Q|HDAC5_ENST00000586802.1_Missense_Mutation_p.E591Q|HDAC5_ENST00000336057.5_Missense_Mutation_p.E591Q			Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	591					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		tcgtcttcctcgtcctcctcc	0.647000													36	10					0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27025016	27025016	+	Missense_Mutation	SNP	C	C	G			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr17:27025016C>G	ENST00000314616.6	+	32	4699	c.4416C>G	c.(4414-4416)ttC>ttG	p.F1472L	SUPT6H_ENST00000347486.4_Missense_Mutation_p.F1472L	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1472					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CCGGCAAGTTCCTACTGGGAT	0.552000													34	162					0	0	1	0	0
POU2F2	5452	broad.mit.edu	37	19	42598045	42598045	+	Silent	SNP	G	G	C			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr19:42598045G>C	ENST00000389341.5	-	12	1152	c.1086C>G	c.(1084-1086)gtC>gtG	p.V362V	POU2F2_ENST00000529067.1_Silent_p.V362V|POU2F2_ENST00000526816.2_Silent_p.V378V|POU2F2_ENST00000560398.1_Silent_p.V384V|POU2F2_ENST00000533720.1_Silent_p.V362V|POU2F2_ENST00000560558.1_Silent_p.V323V|POU2F2_ENST00000529952.1_Silent_p.V378V|POU2F2_ENST00000342301.4_Silent_p.V378V	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN	POU class 2 homeobox 2	378					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				CTTGGGGTGTGACCTGAGGAG	0.632000													45	97					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9076877	9076877	+	Silent	SNP	C	C	T	rs145641827	by1000genomes	TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr19:9076877C>T	ENST00000397910.4	-	3	10772	c.10569G>A	c.(10567-10569)gcG>gcA	p.A3523A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3524	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGCTCACTTCCGCAGGAGATG	0.517000													77	105					0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101076250	101076250	+	Missense_Mutation	SNP	C	C	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr8:101076250C>A	ENST00000360863.6	-	8	940	c.746G>T	c.(745-747)gGa>gTa	p.G249V	RGS22_ENST00000523287.1_Missense_Mutation_p.G68V|RGS22_ENST00000523437.1_Missense_Mutation_p.G237V	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	249					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AGGGTGAACTCCATCATCAAA	0.313000													96	183					3.33393e-45	3.90695e-45	1	1	0
GNG4	2786	broad.mit.edu	37	1	235747078	235747078	+	Missense_Mutation	SNP	C	C	T			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr1:235747078C>T	ENST00000391854.2	-	3	514	c.61G>A	c.(61-63)Gag>Aag	p.E21K	GNG4_ENST00000484517.1_5'UTR|GNG4_ENST00000450593.1_Missense_Mutation_p.E21K|GNG4_ENST00000366598.4_Missense_Mutation_p.E21K|GNG4_ENST00000366597.1_Missense_Mutation_p.E21K	NM_001098722.1|NM_004485.3	NP_001092192.1|NP_004476.1	P50150	GBG4_HUMAN	guanine nucleotide binding protein (G protein), gamma 4	21					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|negative regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity			NS(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00168)|Prostate(94;0.0776)|Acute lymphoblastic leukemia(190;0.23)	OV - Ovarian serous cystadenocarcinoma(106;0.000882)			TTTAGCTGCTCCACAGCTTTC	0.507000													106	88					0	0	1	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10863024	10863024	+	RNA	SNP	C	C	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr21:10863024C>A	ENST00000559480.1	+	0	320																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						AGTCTGAGATCTGAGGACACG	0.507000													70	666					4.14589e-37	4.8333e-37	1	1	0
PSG9	5678	broad.mit.edu	37	19	43757762	43757762	+	Nonstop_Mutation	SNP	C	C	G			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr19:43757762C>G	ENST00000270077.3	-	6	1376	c.1280G>C	c.(1279-1281)tGa>tCa	p.*427S	PSG9_ENST00000443718.3_Nonstop_Mutation_p.*334S|PSG9_ENST00000291752.5_Nonstop_Mutation_p.*241S|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000593948.1_Nonstop_Mutation_p.*334S	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	0					female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				Ttgttgcagtcatgactgaga	0.408000													26	25					0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255345	15255345	+	Missense_Mutation	SNP	C	C	T			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr10:15255345C>T	ENST00000378116.4	-	8	2248	c.2242G>A	c.(2242-2244)Gaa>Aaa	p.E748K		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	748						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GATTTTGGTTCATTCATATCT	0.517000													47	26					0	0	1	0	0
SLC7A14	57709	broad.mit.edu	37	3	170198437	170198437	+	Missense_Mutation	SNP	C	C	G			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr3:170198437C>G	ENST00000231706.5	-	7	1949	c.1634G>C	c.(1633-1635)aGa>aCa	p.R545T	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14							integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			CAGCCGGATTCTCATGGTGTA	0.517000													29	111					0	0	1	0	0
GRHL1	29841	broad.mit.edu	37	2	10132140	10132140	+	Missense_Mutation	SNP	G	G	C			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr2:10132140G>C	ENST00000324907.9	+	11	1463	c.1327G>C	c.(1327-1329)Gat>Cat	p.D443H	GRHL1_ENST00000324883.5_Missense_Mutation_p.D254H|GRHL1_ENST00000405379.2_Missense_Mutation_p.D443H	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	443					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		ttCAGTTTCTGATGTTAAAGT	0.418000													5	6					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102511010	102511010	+	Silent	SNP	C	C	T			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr14:102511010C>T	ENST00000360184.4	+	72	13145	c.12981C>T	c.(12979-12981)gcC>gcT	p.A4327A	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4327					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CCAACAACGCCGAGAGAGTCC	0.642000													61	30					0	0	1	0	0
RC3H2	54542	broad.mit.edu	37	9	125621378	125621378	+	Missense_Mutation	SNP	T	T	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr9:125621378T>A	ENST00000373670.1	-	11	2453	c.1853A>T	c.(1852-1854)tAc>tTc	p.Y618F	RC3H2_ENST00000357244.2_Missense_Mutation_p.Y618F|RC3H2_ENST00000423239.2_Missense_Mutation_p.Y618F			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	618	Pro-rich.					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TGGTGGATAGTATCCTTGAAA	0.433000													21	12					0	0	1	0	0
FN3K	64122	broad.mit.edu	37	17	80708415	80708415	+	Silent	SNP	C	C	T			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr17:80708415C>T	ENST00000300784.7	+	6	776	c.714C>T	c.(712-714)ttC>ttT	p.F238F		NM_022158.3	NP_071441.1	Q9H479	FN3K_HUMAN	fructosamine 3 kinase	238					fructoselysine metabolic process		fructosamine-3-kinase activity			central_nervous_system(1)|kidney(1)|lung(1)|urinary_tract(1)	4	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			CGGCTTCCTTCTATGGCCATT	0.592000													91	220					0	0	1	0	0
CA3	761	broad.mit.edu	37	8	86354383	86354383	+	Missense_Mutation	SNP	C	C	G			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr8:86354383C>G	ENST00000285381.2	+	3	397	c.314C>G	c.(313-315)tCt>tGt	p.S105C	RP11-317J10.2_ENST00000517697.1_RNA|RP11-317J10.2_ENST00000521761.1_RNA	NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	105					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GATCATGGCTCTGAGCACACC	0.488000													52	102					0	0	1	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155935540	155935540	+	Nonsense_Mutation	SNP	C	C	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr1:155935540C>A	ENST00000462460.2	-	9	741	c.487G>T	c.(487-489)Gag>Tag	p.E163*	ARHGEF2_ENST00000368316.1_Nonsense_Mutation_p.E91*|ARHGEF2_ENST00000368315.4_Nonsense_Mutation_p.E119*|ARHGEF2_ENST00000313695.7_Nonsense_Mutation_p.E91*|ARHGEF2_ENST00000361247.4_Nonsense_Mutation_p.E118*|ARHGEF2_ENST00000313667.4_Nonsense_Mutation_p.E118*|ARHGEF2_ENST00000477754.2_Intron			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2						actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTTGGCCGCTCCCGGATGGTT	0.617000													10	53					7.03913e-09	7.50618e-09	1	1	0
RPGRIP1L	23322	broad.mit.edu	37	16	53671682	53671682	+	Missense_Mutation	SNP	C	C	G			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr16:53671682C>G	ENST00000262135.4	-	20	3136	c.3043G>C	c.(3043-3045)Gaa>Caa	p.E1015Q	RPGRIP1L_ENST00000568009.1_5'UTR|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.E1049Q|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.E1015Q|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.E1049Q	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	1049					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				AGCTGACCTTCAGATAGTAAA	0.378000													31	57					0	0	1	0	0
POLR3GL	84265	broad.mit.edu	37	1	145457080	145457080	+	Missense_Mutation	SNP	C	C	T			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr1:145457080C>T	ENST00000369314.1	-	7	587	c.481G>A	c.(481-483)Gta>Ata	p.V161I	POLR3GL_ENST00000369313.3_Missense_Mutation_p.V138I	NM_032305.1	NP_115681.1	Q9BT43	RPC7L_HUMAN	polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like	161	Glu-rich.									endometrium(2)|large_intestine(1)|lung(1)	4	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					tctGAAGTTACTTCTTCTTCC	0.443000													50	26					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49434307	49434307	+	Nonsense_Mutation	SNP	G	G	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr12:49434307G>A	ENST00000301067.7	-	31	7245	c.7246C>T	c.(7246-7248)Cag>Tag	p.Q2416*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GACTGGGACTGAGGACTGGCA	0.647000													43	35					0	0	1	0	0
BRE	9577	broad.mit.edu	37	2	28464251	28464251	+	Missense_Mutation	SNP	A	A	G			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr2:28464251A>G	ENST00000344773.2	+	9	980	c.842A>G	c.(841-843)cAc>cGc	p.H281R	BRE_ENST00000379624.1_Missense_Mutation_p.H281R|BRE_ENST00000342045.2_Missense_Mutation_p.H281R|BRE_ENST00000361704.2_Missense_Mutation_p.H281R|BRE_ENST00000379632.2_Missense_Mutation_p.H281R	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN	brain and reproductive organ-expressed (TNFRSF1A modulator)	281	UEV-like 2.				apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					TTTCTCAGTCACTTTGGCACG	0.443000													40	33					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16970190	16970190	+	Silent	SNP	T	T	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr10:16970190T>A	ENST00000377833.4	-	41	6302	c.6237A>T	c.(6235-6237)gtA>gtT	p.V2079V		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2079	CUB 14.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTGCCCTGGTTACACTGGAGT	0.483000													63	15					0	0	1	0	0
C3orf58	205428	broad.mit.edu	37	3	143691549	143691549	+	Silent	SNP	C	C	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr3:143691549C>A	ENST00000315691.3	+	1	910	c.375C>A	c.(373-375)atC>atA	p.I125I	C3orf58_ENST00000493396.1_3'UTR	NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN	chromosome 3 open reading frame 58	125						COPI vesicle coat|extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ACCAGAGCATCTGCAAGCGGG	0.751000													3	18					0.184627	0.185452	1	1	0
LAMA3	3909	broad.mit.edu	37	18	21529864	21529864	+	Missense_Mutation	SNP	G	G	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr18:21529864G>A	ENST00000313654.9	+	71	9728	c.9487G>A	c.(9487-9489)Gaa>Aaa	p.E3163K	LAMA3_ENST00000587184.1_Missense_Mutation_p.E1498K|LAMA3_ENST00000399516.3_Missense_Mutation_p.E3107K|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000269217.6_Missense_Mutation_p.E1554K	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	3163	Laminin G-like 5.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTATTTCTCTGAAGAAGGAGG	0.423000													37	109					0	0	1	0	0
CSF2RB	1439	broad.mit.edu	37	22	37322030	37322030	+	Splice_Site	SNP	G	G	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr22:37322030G>A	ENST00000262825.5	+	4	419	c.202G>A	c.(202-204)Gac>Aac	p.D68N	CSF2RB_ENST00000536485.1_Splice_Site_p.D9N|CSF2RB_ENST00000403662.3_Splice_Site_p.D68N|CSF2RB_ENST00000406230.1_Splice_Site_p.D68N	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	68					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	TCCCAACAGGGACCTCCTGGA	0.592000													18	33					0	0	1	0	0
C20orf27	54976	broad.mit.edu	37	20	3736222	3736222	+	Missense_Mutation	SNP	C	C	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr20:3736222C>A	ENST00000379772.3	-	4	1005	c.195G>T	c.(193-195)gaG>gaT	p.E65D	C20orf27_ENST00000217195.8_Missense_Mutation_p.E90D	NM_001258429.1	NP_001245358.1	Q9GZN8	CT027_HUMAN	chromosome 20 open reading frame 27	65										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	7						TGAAGGTAATCTCATACCTGT	0.617000													37	44					1.03484e-13	1.1358e-13	1	1	0
MLLT3	4300	broad.mit.edu	37	9	20414379	20414379	+	Silent	SNP	G	G	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr9:20414379G>A	ENST00000380338.4	-	5	751	c.465C>T	c.(463-465)agC>agT	p.S155S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	155	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S155S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.532000			T	MLL	ALL								3	36					0	0	1	0	0
DTNBP1	84062	broad.mit.edu	37	6	15523445	15523445	+	Missense_Mutation	SNP	C	C	T			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr6:15523445C>T	ENST00000344537.5	-	10	989	c.817G>A	c.(817-819)Gaa>Aaa	p.E273K	DTNBP1_ENST00000462989.2_Missense_Mutation_p.E117K|DTNBP1_ENST00000355917.3_Missense_Mutation_p.E274K	NM_032122.4	NP_115498.2	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1	273	Dysbindin.				actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			GTACTGGATTCAGGCCCTGCA	0.483000									Hermansky-Pudlak syndrome				91	749					0	0	1	0	0
KMT2B	9757	broad.mit.edu	37	19	36210956	36210956	+	Missense_Mutation	SNP	A	A	T			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr19:36210956A>T	ENST00000222270.7	+	3	707	c.707A>T	c.(706-708)cAa>cTa	p.Q236L	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000341701.1_Missense_Mutation_p.Q236L|KMT2B_ENST00000420124.1_Missense_Mutation_p.Q236L	NM_014727.1	NP_055542.1			lysine (K)-specific methyltransferase 2B																		AGGAAGCAGCAAGCAGTAGTG	0.657000													4	15					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237947294	237947294	+	Missense_Mutation	SNP	C	C	G			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr1:237947294C>G	ENST00000366574.2	+	90	12599	c.12282C>G	c.(12280-12282)atC>atG	p.I4094M	RYR2_ENST00000360064.6_Missense_Mutation_p.I4100M|RYR2_ENST00000542537.1_Missense_Mutation_p.I4078M|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4094					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.I4092I(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CGAAGGACATCGGCTTCAACG	0.498000													38	8					0	0	1	0	0
SUMO1	7341	broad.mit.edu	37	2	203075522	203075522	+	Missense_Mutation	SNP	G	G	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr2:203075522G>A	ENST00000392246.2	-	4	329	c.173C>T	c.(172-174)cCa>cTa	p.P58L	SUMO1_ENST00000409368.1_Missense_Mutation_p.P58L|SUMO1_ENST00000392245.1_Missense_Mutation_p.P58L|SUMO1_ENST00000409205.1_Missense_Mutation_p.P19L|SUMO1_ENST00000409181.1_Intron|SUMO1_ENST00000409498.2_Missense_Mutation_p.P19L|SUMO1_ENST00000469034.1_5'UTR|SUMO1_ENST00000409712.1_Intron|SUMO1_ENST00000392244.3_Missense_Mutation_p.P33L	NM_003352.4	NP_003343.1	P63165	SUMO1_HUMAN	small ubiquitin-like modifier 1	58	Ubiquitin-like.				DNA repair|interferon-gamma-mediated signaling pathway|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|palate development|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein complex assembly|protein sumoylation|regulation of interferon-gamma-mediated signaling pathway|regulation of protein localization	cytoplasm|nuclear membrane|nuclear pore|nuclear speck	ubiquitin protein ligase binding										TGAATTCATTGGAACACCCTA	0.318000													19	14					0	0	1	0	0
SLC5A2	6524	broad.mit.edu	37	16	31497553	31497553	+	Silent	SNP	C	C	T			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr16:31497553C>T	ENST00000330498.3	+	5	550	c.531C>T	c.(529-531)tcC>tcT	p.S177S		NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	177					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						TCTATGCCTCCGTCATCGCGC	0.602000													32	79					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11098910	11098910	+	RNA	SNP	G	G	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr21:11098910G>A	ENST00000470054.1	-	0	15									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		gcagctcagcgggagatacca	0.587000													3	18					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152823866	152823866	+	Missense_Mutation	SNP	C	C	G			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr6:152823866C>G	ENST00000367255.5	-	10	1391	c.790G>C	c.(790-792)Gat>Cat	p.D264H	SYNE1_ENST00000341594.5_Missense_Mutation_p.D264H|SYNE1_ENST00000367253.4_Missense_Mutation_p.D264H|SYNE1_ENST00000265368.4_Missense_Mutation_p.D264H|SYNE1_ENST00000466159.2_Missense_Mutation_p.D264H|SYNE1_ENST00000423061.1_Missense_Mutation_p.D271H|SYNE1_ENST00000448038.1_Missense_Mutation_p.D271H|SYNE1_ENST00000413186.2_Missense_Mutation_p.D264H|SYNE1_ENST00000367248.3_Missense_Mutation_p.D271H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	264	Actin-binding.|CH 2.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTGGTTTATCCACATCAACG	0.348000										HNSCC(10;0.0054)			17	50					0	0	1	0	0
ZKSCAN7	55888	broad.mit.edu	37	3	44612004	44612004	+	Missense_Mutation	SNP	A	A	G			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr3:44612004A>G	ENST00000273320.3	+	6	1831	c.1402A>G	c.(1402-1404)Aaa>Gaa	p.K468E	RP11-944L7.5_ENST00000419137.1_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000341840.3_Intron|ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.K468E	NM_018651.2	NP_061121.2			zinc finger with KRAB and SCAN domains 7																		GAAACCCTATAAATGTAATGA	0.463000													58	15					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112696960	112696960	+	Missense_Mutation	SNP	C	C	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr12:112696960C>A	ENST00000550722.1	-	19	2940	c.2545G>T	c.(2545-2547)Gcc>Tcc	p.A849S	HECTD4_ENST00000430131.2_Missense_Mutation_p.A563S|HECTD4_ENST00000377560.5_Missense_Mutation_p.A813S	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		GGCATCAGGGCATCCGCCATG	0.483000													41	95					4.44401e-20	4.97464e-20	1	1	0
ACSM5	54988	broad.mit.edu	37	16	20435239	20435239	+	Splice_Site	SNP	C	C	T			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr16:20435239C>T	ENST00000331849.4	+	6	916	c.769C>T	c.(769-771)Cgg>Tgg	p.R257W		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	257					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TTTTGGCAGACGGTGGGTGGC	0.488000													59	83					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													3	10					0	0	1	0	0
GDF11	10220	broad.mit.edu	37	12	56142754	56142754	+	Missense_Mutation	SNP	G	G	C			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr12:56142754G>C	ENST00000257868.5	+	2	867	c.830G>C	c.(829-831)gGa>gCa	p.G277A		NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN	growth differentiation factor 11	277					growth|mesoderm development|skeletal system development	extracellular space	cytokine activity|growth factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						CTGGGGCCGGGAGCCGAGGGG	0.592000													13	16					0	0	1	0	0
LRIG1	26018	broad.mit.edu	37	3	66434438	66434438	+	Missense_Mutation	SNP	G	G	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr3:66434438G>A	ENST00000273261.3	-	14	2572	c.2048C>T	c.(2047-2049)gCt>gTt	p.A683V	LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000383703.3_Intron|SLC25A26_ENST00000536651.1_Intron	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	683	Ig-like C2-type 2.					integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GGTGGCATTAGCTGAAATAGA	0.488000													28	11					0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133153379	133153379	+	Missense_Mutation	SNP	C	C	T			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr8:133153379C>T	ENST00000388996.4	-	10	1882	c.1462G>A	c.(1462-1464)Gaa>Aaa	p.E488K	KCNQ3_ENST00000519445.1_Missense_Mutation_p.E488K|KCNQ3_ENST00000521134.1_Missense_Mutation_p.E368K	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	488					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GCATTACCTTCAGAACTCTGC	0.483000													58	88					0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155510689	155510689	+	Missense_Mutation	SNP	A	A	T			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr4:155510689A>T	ENST00000302053.3	-	2	158	c.80T>A	c.(79-81)tTt>tAt	p.F27Y	FGA_ENST00000403106.3_Missense_Mutation_p.F27Y	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	27					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TTCAGCTAGAAAGTCACCTTC	0.483000													65	21					0	0	1	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33612854	33612854	+	Silent	SNP	G	G	C			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr11:33612854G>C	ENST00000321505.4	+	11	3927	c.3747G>C	c.(3745-3747)gtG>gtC	p.V1249V	KIAA1549L_ENST00000389726.3_Silent_p.V1255V|KIAA1549L_ENST00000265654.5_Intron					KIAA1549-like																		TCATCCCTGTGACTCAGGAGA	0.537000													27	33					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89337258	89337258	+	Silent	SNP	G	G	C	rs141407178		TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr16:89337258G>C	ENST00000301030.4	-	12	8233	c.7773C>G	c.(7771-7773)ctC>ctG	p.L2591L	ANKRD11_ENST00000378330.2_Silent_p.L2591L|AC137932.1_ENST00000602042.1_3'UTR	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2591						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CCACGTCCTGGAGCCAGGAGA	0.592000													17	17					0	0	1	0	0
NUP88	4927	broad.mit.edu	37	17	5298251	5298251	+	Missense_Mutation	SNP	A	A	G			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr17:5298251A>G	ENST00000573584.1	-	9	1851	c.1342T>C	c.(1342-1344)Ttt>Ctt	p.F448L		NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	448					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						TGTTCAACAAAGCATTTCTGT	0.388000													47	21					0	0	1	0	0
SEC22B	9554	broad.mit.edu	37	1	145109312	145109313	+	RNA	INS	-	-	A	rs148903206		TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr1:145109312_145109313insA	ENST00000453618.1	+	0	512							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										aaaccaaaaacaaaAAAAAAAG	0.416													3	4	---	---	---	---					
PBXIP1	57326	broad.mit.edu	37	1	154917508	154917510	+	In_Frame_Del	DEL	GGT	GGT	-	rs143592003		TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr1:154917508_154917510delGGT	ENST00000368463.3	-	11	2257_2259	c.2186_2188delACC	c.(2185-2190)caccgg>cgg	p.H729del	PBXIP1_ENST00000542459.1_In_Frame_Del_p.H574del|PBXIP1_ENST00000539880.1_In_Frame_Del_p.H556del|PBXIP1_ENST00000368465.1_In_Frame_Del_p.H700del	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	729	His-rich.				cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGTCAGCCCCGGTGGTGGTGGTG	0.640													7	115	---	---	---	---					
PTPN14	5784	broad.mit.edu	37	1	214558118	214558119	+	Frame_Shift_Ins	INS	-	-	T	rs112523432	byFrequency	TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr1:214558118_214558119insT	ENST00000366956.5	-	13	1273_1274	c.1079_1080insA	c.(1078-1080)catfs	p.H360fs	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	360			H -> P (in a breast cancer sample; somatic mutation).		lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	p.H360P(1)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CTTCATTCCCATGAAAAATGCT	0.436													127	27	---	---	---	---					
TGFBR2	7048	broad.mit.edu	37	3	30715657	30715658	+	Frame_Shift_Ins	INS	-	-	TT	rs1050833		TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr3:30715657_30715658insTT	ENST00000295754.5	+	5	1697_1698	c.1315_1316insTT	c.(1315-1317)gttfs	p.V439fs	TGFBR2_ENST00000359013.4_Frame_Shift_Ins_p.V464fs	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	439	Protein kinase.		V -> A (in dbSNP:rs1050833).		activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						TTTGGAGAATGTTGAGTCCTTC	0.480													39	21	---	---	---	---					
EIF2A	83939	broad.mit.edu	37	3	150299510	150299510	+	Frame_Shift_Del	DEL	A	A	-			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr3:150299510delA	ENST00000460851.1	+	12	1712	c.1603delA	c.(1603-1605)aaafs	p.K536fs	SERP1_ENST00000479209.1_Intron|EIF2A_ENST00000482471.1_3'UTR|EIF2A_ENST00000273435.5_Frame_Shift_Del_p.K531fs|SERP1_ENST00000490945.1_Intron|EIF2A_ENST00000487799.1_Frame_Shift_Del_p.K511fs|EIF2A_ENST00000406576.3_Frame_Shift_Del_p.K475fs|EIF2A_ENST00000383043.3_Frame_Shift_Del_p.K322fs			Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A, 65kDa	536					regulation of translation|ribosome assembly	eukaryotic translation initiation factor 2 complex	ribosome binding|translation initiation factor activity|tRNA binding			cervix(1)|endometrium(2)|kidney(1)|lung(3)	7		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TGAGATAGACAAAAAAATCAA	0.403													2	4	---	---	---	---					
MED12L	116931	broad.mit.edu	37	3	150877786	150877786	+	Frame_Shift_Del	DEL	C	C	-			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr3:150877786delC	ENST00000474524.1	+	7	1043	c.1005delC	c.(1003-1005)ggcfs	p.G335fs	MED12L_ENST00000309237.4_Frame_Shift_Del_p.G335fs|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000422248.2_Frame_Shift_Del_p.G335fs	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	335					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCAGCCCTGGCCCCCCCGGCC	0.582													7	384	---	---	---	---					
SLC30A9	10463	broad.mit.edu	37	4	42064976	42065005	+	Splice_Site	DEL	CGAACTATATTCTTTTCTATTTTTCAGGTA	CGAACTATATTCTTTTCTATTTTTCAGGTA	-	rs147681937	by1000genomes	TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr4:42064976_42065005delCGAACTATATTCTTTTCTATTTTTCAGGTA	ENST00000264451.7	+	11	1076_1079	c.896_899delCGAACTATATTCTTTTCTATTTTTCAGGTA	c.(895-900)ccgaac>cc	p.PN299del		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9						nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTATTTCTTGCGAACTATATTCTTTTCTATTTTTCAGGTACGGATTTTCA	0.304													8	35	---	---	---	---					
FAM66B	100128890	broad.mit.edu	37	8	7196263	7196264	+	RNA	DEL	AC	AC	-			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr8:7196263_7196264delAC	ENST00000606573.1	-	0	703																											ACTGAGGGGTacacacacacac	0.500													4	2	---	---	---	---					
CIZ1	25792	broad.mit.edu	37	9	130940677	130940681	+	Frame_Shift_Del	DEL	ATTCT	ATTCT	-			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr9:130940677_130940681delATTCT	ENST00000538431.1	-	9	1834_1838	c.1587_1591delAGAAT	c.(1585-1593)ggagaatgtfs	p.EC530fs	CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000372938.5_Frame_Shift_Del_p.EC530fs|CIZ1_ENST00000325721.8_Frame_Shift_Del_p.EC501fs|CIZ1_ENST00000357558.5_Frame_Shift_Del_p.EC502fs|CIZ1_ENST00000372948.3_Frame_Shift_Del_p.EC474fs|CIZ1_ENST00000372954.1_Frame_Shift_Del_p.EC450fs|CIZ1_ENST00000541172.1_Frame_Shift_Del_p.EC429fs|CIZ1_ENST00000277465.4_Frame_Shift_Del_p.EC502fs|CIZ1_ENST00000393608.1_Frame_Shift_Del_p.EC530fs	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	530						nucleus	nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						CTGTTTTCACATTCTCCCACATCTA	0.571													47	202	---	---	---	---					
HDAC7	51564	broad.mit.edu	37	12	48192604	48192604	+	Frame_Shift_Del	DEL	T	T	-			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr12:48192604delT	ENST00000080059.7	-	3	221	c.222delA	c.(220-222)gcafs	p.A74fs	HDAC7_ENST00000552960.1_Frame_Shift_Del_p.A57fs|HDAC7_ENST00000354334.3_Frame_Shift_Del_p.A74fs|HDAC7_ENST00000427332.2_Frame_Shift_Del_p.A35fs|HDAC7_ENST00000380610.4_Frame_Shift_Del_p.A91fs	NM_015401.3	NP_056216.2	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	35	Interaction with MEF2A (By similarity).|Interaction with MEF2C (By similarity).|Transcription repression 1 (By similarity).				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		GCTGCAGGCCTGCTAGGAAGA	0.687													2	4	---	---	---	---					
LOC100131347	100131347	broad.mit.edu	37	17	37213527	37213528	+	RNA	INS	-	-	TTG	rs71141752		TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr17:37213527_37213528insTTG	ENST00000583447.1	+	0	141					NR_036551.1																						GAAGGACTCttttttttttttt	0.550													4	5	---	---	---	---					
GPS1	2873	broad.mit.edu	37	17	80014554	80014555	+	Frame_Shift_Ins	INS	-	-	C			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr17:80014554_80014555insC	ENST00000392358.2	+	11	1635_1636	c.1286_1287insC	c.(1285-1290)ttcaatfs	p.N430fs	GPS1_ENST00000355130.2_Frame_Shift_Ins_p.N430fs|GPS1_ENST00000306823.6_Frame_Shift_Ins_p.N394fs|GPS1_ENST00000578552.1_Frame_Shift_Ins_p.N390fs|GPS1_ENST00000320548.4_Frame_Shift_Ins_p.N374fs	NM_212492.1	NP_997657.1	Q13098	CSN1_HUMAN	G protein pathway suppressor 1	394					cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			GCGGCAGCCTTCAATACCACGG	0.634													7	35	---	---	---	---					
SNORA70	26778	broad.mit.edu	37	18	3025532	3025533	+	RNA	INS	-	-	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr18:3025532_3025533insA	ENST00000516449.1	-	0	31_32																											TACAACTTCTTAAAAAAAAAAt	0.475													11	19	---	---	---	---					
BRSK1	84446	broad.mit.edu	37	19	55815036	55815036	+	Splice_Site	DEL	C	C	-			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr19:55815036delC	ENST00000309383.1	+	12	1405	c.1128delC	c.(1126-1128)gac>ga	p.D376fs	BRSK1_ENST00000326848.7_Splice_Site_p.D71fs|BRSK1_ENST00000590333.1_Splice_Site_p.D392fs	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	376					establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	p.R379fs*9(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GTCCCTCAGACCCCCCCCGGA	0.582													7	71	---	---	---	---					
HRH3	11255	broad.mit.edu	37	20	60791856	60791857	+	In_Frame_Ins	INS	-	-	GCT			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chr20:60791856_60791857insGCT	ENST00000340177.5	-	3	827_828	c.543_544insAGC	c.(541-546)agctcc>agcAGCtcc	p.181_182SS>SSS	HRH3_ENST00000317393.6_In_Frame_Ins_p.181_182SS>SSS	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	181					G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	TCGGGGATGGAGCTGCCCCCGG	0.619													48	70	---	---	---	---					
KANTR	102723508	broad.mit.edu	37	X	53142508	53142509	+	RNA	INS	-	-	A	rs145002653	by1000genomes	TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chrX:53142508_53142509insA	ENST00000604849.1	+	0	96																											AACACACACACAAAAAAAAACC	0.356													8	6	---	---	---	---					
STAG2	10735	broad.mit.edu	37	X	123197030	123197031	+	Frame_Shift_Ins	INS	-	-	A			TCGA-PQ-A6FI-01A-11D-A31L-08	TCGA-PQ-A6FI-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1821e81b-26cb-40a4-8841-9682e3b7323d	56b36392-418f-4699-b109-6bf9110e1dd3	g.chrX:123197030_123197031insA	ENST00000371160.1	+	19	2086_2087	c.1796_1797insA	c.(1795-1800)atatatfs	p.Y600fs	STAG2_ENST00000371145.3_Frame_Shift_Ins_p.Y600fs|STAG2_ENST00000354548.5_Frame_Shift_Ins_p.Y531fs|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Frame_Shift_Ins_p.Y600fs|STAG2_ENST00000371157.3_Frame_Shift_Ins_p.Y600fs|STAG2_ENST00000371144.3_Frame_Shift_Ins_p.Y600fs	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	600					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GATTTGGAAATATATACCACTG	0.287													40	8	---	---	---	---