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
CDK20	23552	broad.mit.edu	37	9	90588987	90588987	+	Silent	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr9:90588987C>G	ENST00000336654.5	-	2	220	c.78G>C	c.(76-78)ccG>ccC	p.P26P	CDK20_ENST00000375883.3_Intron|CDK20_ENST00000605159.1_Intron|CDK20_ENST00000375871.4_Intron|CDK20_ENST00000325303.8_Intron			Q8IZL9	CDK20_HUMAN	cyclin-dependent kinase 20	25	Protein kinase.				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity			skin(1)	1						AGCCCACCCTCGGCTGGGAAA	0.627000													6	20					0	0	1	0	0
FTHL17	53940	broad.mit.edu	37	X	31089912	31089912	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chrX:31089912G>T	ENST00000359202.3	-	1	258	c.159C>A	c.(157-159)ttC>ttA	p.F53L		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	53	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						GGAAGTAGCGGAAGAAGTTCT	0.567000													9	35					0.000442599	0.000465263	1	1	0
NELFA	7469	broad.mit.edu	37	4	1985216	1985216	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr4:1985216C>G	ENST00000382882.3	-	11	2567	c.1450G>C	c.(1450-1452)Gag>Cag	p.E484Q	NELFA_ENST00000542778.1_Missense_Mutation_p.E338Q|NELFA_ENST00000411638.2_Missense_Mutation_p.E473Q					negative elongation factor complex member A																		TCCCCCTGCTCCTGGCACGGG	0.667000													5	79					0	0	1	0	0
SLC44A1	23446	broad.mit.edu	37	9	108123610	108123610	+	Splice_Site	SNP	C	C	T	rs138288840	by1000genomes	TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr9:108123610C>T	ENST00000374720.3	+	8	1146	c.899C>T	c.(898-900)aCa>aTa	p.T300I	SLC44A1_ENST00000374723.1_Splice_Site_p.T300I|SLC44A1_ENST00000374724.1_Splice_Site_p.T300I|SLC44A1_ENST00000343170.7_Splice_Site_p.T92I	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	300						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	ACAGTGTTCACAGTGAGTTTA	0.433000													7	84					0	0	1	0	0
OPN5	221391	broad.mit.edu	37	6	47754315	47754315	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr6:47754315G>A	ENST00000489301.2	+	2	280	c.195G>A	c.(193-195)ctG>ctA	p.L65L	OPN5_ENST00000393699.2_Silent_p.L65L|OPN5_ENST00000371211.2_Silent_p.L65L			Q6U736	OPN5_HUMAN	opsin 5	65					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						AGAAGAAGCTGAGACCCGCTG	0.378000													7	78					0	0	1	0	0
MADD	8567	broad.mit.edu	37	11	47310975	47310975	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr11:47310975C>A	ENST00000342922.4	+	16	3044	c.2687C>A	c.(2686-2688)tCt>tAt	p.S896Y	MADD_ENST00000407859.3_Missense_Mutation_p.S873Y|MADD_ENST00000402192.2_Missense_Mutation_p.S896Y|MADD_ENST00000395336.3_Missense_Mutation_p.S916Y|MADD_ENST00000406482.1_Missense_Mutation_p.S853Y|MADD_ENST00000349238.3_Missense_Mutation_p.S916Y|MADD_ENST00000311027.5_Missense_Mutation_p.S916Y|MADD_ENST00000402799.1_Missense_Mutation_p.S853Y|MADD_ENST00000395344.3_Missense_Mutation_p.S853Y	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	916					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CAGAAGTCATCTGTCATTAAA	0.473000													29	184					6.00712e-18	6.78474e-18	1	1	0
ADD3	120	broad.mit.edu	37	10	111881991	111881991	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr10:111881991C>A	ENST00000277900.8	+	9	1449	c.1084C>A	c.(1084-1086)Caa>Aaa	p.Q362K	ADD3_ENST00000356080.4_Missense_Mutation_p.Q362K|ADD3_ENST00000360162.3_Missense_Mutation_p.Q362K	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	362				Q -> P (in Ref. 2; AAB17126).		cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		GGGTTCCCATCAAAAATGGAA	0.413000													9	74					0.010729	0.0109486	1	1	0
EXPH5	23086	broad.mit.edu	37	11	108382971	108382971	+	Nonsense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr11:108382971G>C	ENST00000265843.4	-	6	3373	c.3263C>G	c.(3262-3264)tCa>tGa	p.S1088*	EXPH5_ENST00000443411.1_Nonsense_Mutation_p.S900*|EXPH5_ENST00000525344.1_Nonsense_Mutation_p.S1081*|EXPH5_ENST00000428840.1_Nonsense_Mutation_p.S1012*	NM_015065.2	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5	1088					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTCCAGGGCTGAGTCTGAAAG	0.418000													11	95					0	0	1	0	0
SLC26A3	1811	broad.mit.edu	37	7	107423682	107423682	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr7:107423682G>A	ENST00000340010.5	-	9	1271	c.1087C>T	c.(1087-1089)Ctc>Ttc	p.L363F	SLC26A3_ENST00000422236.2_Missense_Mutation_p.L328F	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	363					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TCGTATTTGAGGGAATAGACG	0.423000													6	85					0	0	1	0	0
CALCOCO1	57658	broad.mit.edu	37	12	54115940	54115940	+	Missense_Mutation	SNP	G	G	A	rs35358749	byFrequency	TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr12:54115940G>A	ENST00000548263.1	-	5	526	c.478C>T	c.(478-480)Cgg>Tgg	p.R160W	CALCOCO1_ENST00000262059.4_Missense_Mutation_p.R160W|CALCOCO1_ENST00000430117.2_Missense_Mutation_p.R127W|CALCOCO1_ENST00000550804.1_Missense_Mutation_p.R160W			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	160	N-terminal AD (CTNNB1 binding site) (By similarity).				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						AGGTCATTCCGTTCTTGCTGG	0.587000													14	70					0	0	1	0	0
IPO4	79711	broad.mit.edu	37	14	24653225	24653225	+	Silent	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr14:24653225C>G	ENST00000354464.6	-	18	2024	c.1848G>C	c.(1846-1848)ctG>ctC	p.L616L	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	616					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CGGTGGAACGCAGTGACAGCA	0.602000													4	14					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26640087	26640087	+	Nonsense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr12:26640087G>C	ENST00000381340.3	-	40	5884	c.5468C>G	c.(5467-5469)tCa>tGa	p.S1823*		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1823					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TGTCACTGTTGATCTTATTTC	0.343000													8	72					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62148526	62148526	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr15:62148526G>A	ENST00000261517.5	-	83	11108	c.11035C>T	c.(11035-11037)Cct>Tct	p.P3679S	VPS13C_ENST00000249837.3_Missense_Mutation_p.P3636S	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	3679					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ACACTAGGAGGAAATACAAAA	0.358000													8	35					0	0	1	0	0
SMCHD1	23347	broad.mit.edu	37	18	2775745	2775745	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr18:2775745C>T	ENST00000320876.6	+	42	5527	c.5189C>T	c.(5188-5190)gCa>gTa	p.A1730V	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.A1730V	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1730					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GCACATCTAGCACAAATTGAA	0.363000													5	46					0	0	1	0	0
FNDC3B	64778	broad.mit.edu	37	3	171969090	171969090	+	Silent	SNP	A	A	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr3:171969090A>C	ENST00000336824.4	+	6	648	c.549A>C	c.(547-549)cgA>cgC	p.R183R	FNDC3B_ENST00000415807.2_Silent_p.R183R|FNDC3B_ENST00000416957.1_Silent_p.R183R	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	183						endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		ACATCACCCGAGAAGACCAGT	0.388000													5	36					0	0	1	0	0
PADI1	29943	broad.mit.edu	37	1	17570709	17570709	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr1:17570709C>T	ENST00000375471.4	+	16	2055	c.1963C>T	c.(1963-1965)Ccc>Tcc	p.P655S	PADI1_ENST00000460293.1_3'UTR|PADI1_ENST00000537499.1_Missense_Mutation_p.P212S|PADI1_ENST00000536552.1_Missense_Mutation_p.P126S|PADI1_ENST00000413717.2_Missense_Mutation_p.P170S	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	655					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	GAAGCCCTTTCCCTTCAAATG	0.597000													11	46					0	0	1	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332570	22332570	+	RNA	SNP	T	T	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr15:22332570T>C	ENST00000558896.1	+	0	377																											CCCATGCTCATCTGCTCCAAT	0.398000													4	226					0	0	1	0	0
DDB1	1642	broad.mit.edu	37	11	61081799	61081799	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr11:61081799G>A	ENST00000301764.7	-	13	1967	c.1570C>T	c.(1570-1572)Cag>Tag	p.Q524*	DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	524	Interaction with CDT1.|Interaction with CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CGGAGCTCCTGAGGATGGATC	0.542000								Nucleotide excision repair (NER)					11	57					0	0	1	0	0
HBS1L	10767	broad.mit.edu	37	6	135318539	135318539	+	Silent	SNP	G	G	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr6:135318539G>T	ENST00000367837.5	-	6	1001	c.795C>A	c.(793-795)gtC>gtA	p.V265V	HBS1L_ENST00000415177.2_Silent_p.V200V|HBS1L_ENST00000527578.1_Silent_p.V101V|HBS1L_ENST00000367824.4_Silent_p.V101V|HBS1L_ENST00000367826.2_Silent_p.V223V|HBS1L_ENST00000445176.2_5'UTR	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like (S. cerevisiae)	265					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		CATTACCAATGACCACTAAGT	0.537000													8	43					5.4927e-09	6.00926e-09	1	1	0
FAM208B	54906	broad.mit.edu	37	10	5784301	5784301	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr10:5784301G>A	ENST00000328090.5	+	14	3194	c.2569G>A	c.(2569-2571)Gaa>Aaa	p.E857K	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	857																	GGAGACTAACGAAATTTCCAG	0.438000													16	137					0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56244283	56244283	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr19:56244283G>C	ENST00000332836.2	-	2	941	c.914C>G	c.(913-915)tCg>tGg	p.S305W		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	305	NACHT.					cytoplasm	ATP binding	p.S305*(1)|p.S305L(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GGAGAAATACGACTTCTTTTC	0.383000													13	108					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56323954	56323954	+	Missense_Mutation	SNP	T	T	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr6:56323954T>A	ENST00000370754.5	-	102	23101	c.23102A>T	c.(23101-23103)cAg>cTg	p.Q7701L	DST_ENST00000370788.2_Missense_Mutation_p.Q5326L|DST_ENST00000446842.2_Missense_Mutation_p.Q7197L|DST_ENST00000361203.3_Missense_Mutation_p.Q7412L|DST_ENST00000370769.4_Missense_Mutation_p.Q7523L|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Missense_Mutation_p.Q5122L|DST_ENST00000421834.2_Missense_Mutation_p.Q5408L			Q03001	DYST_HUMAN	dystonin	7521					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GCACACGGACTGGATTTCTGA	0.577000													11	33					0	0	1	0	0
GLTSCR1	29998	broad.mit.edu	37	19	48179158	48179158	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr19:48179158C>G	ENST00000396720.3	+	5	329	c.135C>G	c.(133-135)ttC>ttG	p.F45L	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	45							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		AAAGTGCCTTCTATGAAGGTC	0.617000													3	18					0	0	1	0	0
RRP12	23223	broad.mit.edu	37	10	99156031	99156031	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr10:99156031C>T	ENST00000370992.4	-	3	508	c.397G>A	c.(397-399)Gag>Aag	p.E133K	RRP12_ENST00000315563.6_Missense_Mutation_p.E133K|RRP12_ENST00000414986.1_Missense_Mutation_p.E133K	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	133						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CGAATCACCTCAGTGACAGCA	0.567000													4	8					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40050614	40050614	+	Missense_Mutation	SNP	T	T	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr20:40050614T>G	ENST00000373233.3	-	31	4838	c.4661A>C	c.(4660-4662)aAg>aCg	p.K1554T		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1554					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CTGAGGGCACTTGAGCACTTG	0.562000													6	54					0	0	1	0	0
BRS3	680	broad.mit.edu	37	X	135570696	135570696	+	Silent	SNP	C	C	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chrX:135570696C>A	ENST00000370648.3	+	1	651	c.423C>A	c.(421-423)ctC>ctA	p.L141L		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	141					adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					TAACAATTCTCAGCGCTGACA	0.423000													5	38					0.000602214	0.00063115	1	1	0
TNRC6A	27327	broad.mit.edu	37	16	24818089	24818089	+	Silent	SNP	C	C	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr16:24818089C>T	ENST00000395799.3	+	17	4653	c.4524C>T	c.(4522-4524)ttC>ttT	p.F1508F	TNRC6A_ENST00000315183.7_Silent_p.F1459F|CTD-2515A14.1_ENST00000568895.1_RNA	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1508					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TAAATGCTTTCAGCAACTTCC	0.502000													6	35					0	0	1	0	0
HCN3	57657	broad.mit.edu	37	1	155255679	155255679	+	Silent	SNP	C	C	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr1:155255679C>T	ENST00000368358.3	+	6	1409	c.1401C>T	c.(1399-1401)ttC>ttT	p.F467F	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	467						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		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)			AGATGTACTTCATCCAGCATG	0.642000													12	113					0	0	1	0	0
NELFA	7469	broad.mit.edu	37	4	1993290	1993290	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr4:1993290C>G	ENST00000382882.3	-	2	1513	c.396G>C	c.(394-396)ttG>ttC	p.L132F	NELFA_ENST00000542778.1_Intron|NELFA_ENST00000411638.2_Missense_Mutation_p.L121F					negative elongation factor complex member A																		TAAGTTCTCCCAAAATATCCT	0.443000													11	56					0	0	1	0	0
PSMD9	5715	broad.mit.edu	37	12	122337706	122337706	+	Silent	SNP	C	C	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr12:122337706C>T	ENST00000541212.1	+	3	534	c.408C>T	c.(406-408)ttC>ttT	p.F136F	PSMD9_ENST00000542602.1_Intron|PSMD9_ENST00000340175.5_Silent_p.F136F|RP11-87C12.2_ENST00000546333.1_Intron|PSMD9_ENST00000261817.2_Silent_p.F136F			O00233	PSMD9_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 9	136	PDZ.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of insulin secretion|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of insulin secretion|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	nucleus|proteasome regulatory particle	bHLH transcription factor binding|transcription coactivator activity			endometrium(1)|large_intestine(1)|lung(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000117)|Epithelial(86;0.000415)|BRCA - Breast invasive adenocarcinoma(302;0.231)		CACGGGCCTTCGCCAAAGTGA	0.647000													4	37					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11038728	11038728	+	RNA	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr21:11038728C>G	ENST00000470054.1	-	0	1475									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)		ATCACCCTACCTGTTTGGACC	0.378000													15	96					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21501525	21501525	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr18:21501525G>T	ENST00000313654.9	+	62	8394	c.8153G>T	c.(8152-8154)gGa>gTa	p.G2718V	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000269217.6_Missense_Mutation_p.G1109V|LAMA3_ENST00000399516.3_Missense_Mutation_p.G2662V|LAMA3_ENST00000587184.1_Missense_Mutation_p.G1053V	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2718	Laminin G-like 2.				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)	TATCTGGGAGGAATTCCAATT	0.333000													24	59					3.65163e-15	4.09781e-15	1	1	0
PPARGC1B	133522	broad.mit.edu	37	5	149212625	149212625	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr5:149212625G>A	ENST00000309241.5	+	5	1021	c.989G>A	c.(988-990)cGg>cAg	p.R330Q	PPARGC1B_ENST00000360453.4_Missense_Mutation_p.R291Q|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.R266Q|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.R330Q	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	330					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CCCTGGTCCCGGCACCACTCC	0.632000													5	43					0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97820180	97820180	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr7:97820180C>G	ENST00000297293.5	+	10	1432	c.1139C>G	c.(1138-1140)tCt>tGt	p.S380C		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	380	Protein kinase.				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CAGCCCTACTCTGATAGATGG	0.468000													14	124					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61415506	61415506	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr2:61415506C>G	ENST00000398571.2	-	80	10448	c.10372G>C	c.(10372-10374)Gat>Cat	p.D3458H	AHSA2_ENST00000394457.3_3'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3458					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)			AGGGTAGAATCCTTGGAACAG	0.423000													16	77					0	0	1	0	0
AGER	177	broad.mit.edu	37	6	32151407	32151407	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr6:32151407C>T	ENST00000375076.4	-	3	381	c.280G>A	c.(280-282)Gag>Aag	p.E94K	AGER_ENST00000438221.2_Missense_Mutation_p.E94K|AGER_ENST00000375067.3_Missense_Mutation_p.E80K|AGER_ENST00000375070.3_Missense_Mutation_p.E125K|RNF5_ENST00000427134.2_3'UTR|AGER_ENST00000375069.3_5'UTR|AGER_ENST00000375065.5_Missense_Mutation_p.E94K|AGER_ENST00000375055.2_Missense_Mutation_p.E94K|AGER_ENST00000538695.1_Missense_Mutation_p.E94K	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor	94	Ig-like V-type.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						AAAATCCCCTCATCCTGGATC	0.577000													9	97					0	0	1	0	0
NDUFAF7	55471	broad.mit.edu	37	2	37475346	37475346	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr2:37475346G>A	ENST00000002125.4	+	10	1219	c.1179G>A	c.(1177-1179)atG>atA	p.M393I	NDUFAF7_ENST00000336237.6_Missense_Mutation_p.M295I	NM_144736.4	NP_653337.1			NADH dehydrogenase (ubiquinone) complex I, assembly factor 7																		ATATGTTAATGAATCCAAAGA	0.358000													9	56					0	0	1	0	0
C4orf40	401137	broad.mit.edu	37	4	71024186	71024186	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr4:71024186C>A	ENST00000344526.5	+	3	406	c.217C>A	c.(217-219)Cct>Act	p.P73T	C4orf40_ENST00000502441.2_Intron|C4orf40_ENST00000502294.1_Missense_Mutation_p.P73T	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN	chromosome 4 open reading frame 40	73						extracellular region				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CACAGGGTTACCTTCGTATCC	0.463000													36	117					5.8336e-16	6.56751e-16	1	1	0
DLG5	9231	broad.mit.edu	37	10	79567622	79567622	+	Silent	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr10:79567622C>G	ENST00000372391.2	-	25	4733	c.4728G>C	c.(4726-4728)ctG>ctC	p.L1576L	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Silent_p.L1236L	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1576	PDZ 4.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			ACTGCACCTTCAGGCGGACGC	0.597000													5	48					0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70293705	70293705	+	Nonsense_Mutation	SNP	G	G	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr13:70293705G>T	ENST00000377844.4	-	9	2570	c.1811C>A	c.(1810-1812)tCa>tAa	p.S604*	KLHL1_ENST00000545028.1_Nonsense_Mutation_p.S411*	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	604					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		ACCTCCAACTGAATACAACCT	0.333000													5	35					1	1	1	1	0
TOP1MT	116447	broad.mit.edu	37	8	144411576	144411576	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr8:144411576G>C	ENST00000523676.1	-	4	415	c.10C>G	c.(10-12)Cat>Gat	p.H4D	TOP1MT_ENST00000519148.1_Missense_Mutation_p.H4D|TOP1MT_ENST00000329245.4_Missense_Mutation_p.H102D|TOP1MT_ENST00000521193.1_Missense_Mutation_p.H4D			Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	102					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	GTGTATTCATGATCTAACATC	0.542000													5	68					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105409410	105409410	+	Silent	SNP	C	C	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr14:105409410C>T	ENST00000333244.5	-	7	12497	c.12378G>A	c.(12376-12378)gtG>gtA	p.V4126V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4126						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTTTGGCAGTCACATCCTTGT	0.587000													103	291					0	0	1	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209948798	209948798	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr1:209948798G>C	ENST00000367024.1	+	10	1395	c.879G>C	c.(877-879)gaG>gaC	p.E293D	TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.E273D|TRAF3IP3_ENST00000477431.1_Missense_Mutation_p.E29D|TRAF3IP3_ENST00000367023.1_Missense_Mutation_p.E29D|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.E273D|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.E293D|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.E273D			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	293						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		TGCTGGAGGAGAAAATGAATG	0.522000													4	27					0	0	1	0	0
CSNK1G1	53944	broad.mit.edu	37	15	64506152	64506152	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr15:64506152T>C	ENST00000303052.7	-	6	1039	c.616A>G	c.(616-618)Agg>Ggg	p.R206G	CSNK1G1_ENST00000303032.6_Missense_Mutation_p.R206G|CTD-2116N17.1_ENST00000606793.1_Missense_Mutation_p.R188G|CSNK1G1_ENST00000607537.1_Missense_Mutation_p.R206G	NM_022048.3	NP_071331.2	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	206	Protein kinase.		R -> K (in dbSNP:rs55799101).		Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						TTGTGTTCCCTATAAGGTATG	0.398000													13	105					0	0	1	0	0
UBC	7316	broad.mit.edu	37	12	125397100	125397100	+	Silent	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr12:125397100G>C	ENST00000536769.1	-	1	2794	c.1218C>G	c.(1216-1218)gtC>gtG	p.V406V	UBC_ENST00000546120.1_Silent_p.V330V|UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Silent_p.V406V			P0CG48	UBC_HUMAN	ubiquitin C	406	Ubiquitin-like 6.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TCTTTGCCTTGACATTCTCAA	0.532000													18	343					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47892789	47892789	+	Silent	SNP	C	C	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr7:47892789C>T	ENST00000289672.2	-	31	4946	c.4896G>A	c.(4894-4896)gtG>gtA	p.V1632V		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1632					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AGATCTGCTTCACAAGAAAAT	0.383000													10	94					0	0	1	0	0
GTF2I	2969	broad.mit.edu	37	7	74148269	74148269	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr7:74148269G>C	ENST00000324896.4	+	16	1698	c.1309G>C	c.(1309-1311)Gag>Cag	p.E437Q	GTF2I_ENST00000353920.4_Missense_Mutation_p.E417Q|GTF2I_ENST00000346152.4_Missense_Mutation_p.E416Q|GTF2I_ENST00000416070.1_Missense_Mutation_p.E396Q	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	437					negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						TTTCAGACATGAGCTTCTGAA	0.363000													16	118					0	0	1	0	0
EAF2	55840	broad.mit.edu	37	3	121554214	121554214	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr3:121554214C>T	ENST00000273668.2	+	1	153	c.82C>T	c.(82-84)Cgc>Tgc	p.R28C	EAF2_ENST00000451944.2_Missense_Mutation_p.R28C|EAF2_ENST00000465664.1_3'UTR	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	28	Necessary for interaction with ELL.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		GAAGCAGCCGCGCTGCGCCTT	0.587000													5	36					0	0	1	0	0
HIST2H2AC	8338	broad.mit.edu	37	1	149858546	149858546	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr1:149858546G>A	ENST00000331380.2	+	1	22	c.22G>A	c.(22-24)Gga>Aga	p.G8R		NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	8					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			TGGCAAACAAGGAGGCAAGGC	0.562000													7	152					0	0	1	0	0
VPS4B	9525	broad.mit.edu	37	18	61067313	61067313	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr18:61067313C>G	ENST00000238497.5	-	7	961	c.758G>C	c.(757-759)aGa>aCa	p.R253T	VPS4B_ENST00000591383.1_5'UTR	NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	253					cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						CGTCTTAATTCTACGTGCGGC	0.423000													15	85					0	0	1	0	0
AC096579.13	0	broad.mit.edu	37	2	89160382	89160382	+	RNA	SNP	A	A	G	rs138101377	by1000genomes	TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr2:89160382A>G	ENST00000452230.1	-	0	39				AC096579.7_ENST00000430694.1_RNA																							AAAAAGCATTAGGAAAGTGCA	0.418000													3	56					0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	18023719	18023719	+	Silent	SNP	C	C	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr1:18023719C>T	ENST00000361221.3	+	29	3843	c.3684C>T	c.(3682-3684)cgC>cgT	p.R1228R	ARHGEF10L_ENST00000375408.3_Silent_p.R1001R|ARHGEF10L_ENST00000452522.1_Silent_p.R1189R|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375415.1_Silent_p.R1189R|ARHGEF10L_ENST00000167825.4_Silent_p.R931R	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1228					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CCTGCGCCCGCGACGCCCACC	0.677000													5	26					0	0	1	0	0
HBS1L	10767	broad.mit.edu	37	6	135318559	135318559	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr6:135318559G>C	ENST00000367837.5	-	6	981	c.775C>G	c.(775-777)Cag>Gag	p.Q259E	HBS1L_ENST00000415177.2_Missense_Mutation_p.Q194E|HBS1L_ENST00000527578.1_Missense_Mutation_p.Q95E|HBS1L_ENST00000367824.4_Missense_Mutation_p.Q95E|HBS1L_ENST00000367826.2_Missense_Mutation_p.Q217E|HBS1L_ENST00000445176.2_5'UTR	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like (S. cerevisiae)	259					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		TTGAGTAGCTGCTTCCCTCCT	0.537000													9	43					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43510773	43510773	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr18:43510773C>G	ENST00000282041.5	-	12	2315	c.2281G>C	c.(2281-2283)Gag>Cag	p.E761Q		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	761					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						AGACACTTCTCAAAGTTGGTA	0.378000													6	27					0	0	1	0	0
EVL	51466	broad.mit.edu	37	14	100593087	100593087	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr14:100593087G>C	ENST00000544450.2	+	5	761	c.478G>C	c.(478-480)Gaa>Caa	p.E160Q	EVL_ENST00000402714.2_Missense_Mutation_p.E154Q|EVL_ENST00000392920.3_Missense_Mutation_p.E156Q			Q9UI08	EVL_HUMAN	Enah/Vasp-like	154					actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis	cytoskeleton|cytosol|focal adhesion|lamellipodium	actin binding|profilin binding|SH3 domain binding			cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				GGAATCTCTAGAAAGAAGAAC	0.597000													5	82					0	0	1	0	0
IGHV3-20	28445	broad.mit.edu	37	14	106668019	106668019	+	RNA	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr14:106668019C>G	ENST00000390606.2	-	0	76																											AAACCCAGCTCAGCCCAAACT	0.493000													20	139					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141072512	141072512	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr2:141072512G>A	ENST00000389484.3	-	83	13768	c.12797C>T	c.(12796-12798)tCa>tTa	p.S4266L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4266	EGF-like 11.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACCTAGAACTGATGGTACGCA	0.363000										TSP Lung(27;0.18)			19	39					0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454440	84454440	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr13:84454440G>A	ENST00000377084.2	-	1	2088	c.1203C>T	c.(1201-1203)ctC>ctT	p.L401L		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	401						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CCAACAGAATGAGGTTCTTGT	0.438000													26	136					0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120166322	120166322	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr12:120166322C>G	ENST00000392521.2	-	28	3631	c.3576G>C	c.(3574-3576)caG>caC	p.Q1192H	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.Q1150H	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1150	Interaction with Rho/Rac.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CCAGAAGCCTCTGTTTGAGCT	0.433000													5	302					0	0	1	0	0
AAMP	14	broad.mit.edu	37	2	219134734	219134734	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr2:219134734C>G	ENST00000248450.4	-	1	246	c.76G>C	c.(76-78)Gag>Cag	p.E26Q	AAMP_ENST00000444053.1_Missense_Mutation_p.E26Q			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	26					angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCGATAATCTCTTCATCACCA	0.622000													18	198					0	0	1	0	0
DNAAF2	55172	broad.mit.edu	37	14	50101340	50101340	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr14:50101340G>T	ENST00000298292.8	-	1	608	c.528C>A	c.(526-528)ttC>ttA	p.F176L	DNAAF2_ENST00000406043.3_Missense_Mutation_p.F176L	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	176					axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm				kidney(1)|lung(4)	5						GCTTCACGCCGAACTGCTTCT	0.682000													7	42					9.70103e-10	1.07141e-09	1	1	0
PIAS4	51588	broad.mit.edu	37	19	4037636	4037636	+	Silent	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr19:4037636C>G	ENST00000262971.2	+	11	1411	c.1296C>G	c.(1294-1296)ctC>ctG	p.L432L		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	432					positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAATGGGCTCCTGCCCGCCC	0.687000													10	29					0	0	1	0	0
KIF25	3834	broad.mit.edu	37	6	168431453	168431453	+	Splice_Site	SNP	G	G	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr6:168431453G>T	ENST00000443060.2	+	4	484	c.93G>T	c.(91-93)agG>agT	p.R31S	KIF25_ENST00000351261.3_Splice_Site_p.R31S|KIF25_ENST00000354419.2_Splice_Site_p.R31S			Q9UIL4	KIF25_HUMAN	kinesin family member 25	31	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		TGTCTCTCAGGGTTTATGGTC	0.483000													11	59					0.000673444	0.000703689	1	1	0
CDKL2	8999	broad.mit.edu	37	4	76529001	76529001	+	Splice_Site	SNP	C	C	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr4:76529001C>T	ENST00000429927.2	-	6	1498	c.795G>A	c.(793-795)aaG>aaA	p.K265K	CDKL2_ENST00000307465.4_Splice_Site_p.K265K	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	265	Protein kinase.				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GTATGATTACCTTTGCTAAAT	0.333000													6	103					0	0	1	0	0
ZFP91	80829	broad.mit.edu	37	11	58385156	58385156	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr11:58385156G>C	ENST00000316059.6	+	11	1861	c.1690G>C	c.(1690-1692)Gat>Cat	p.D564H	ZFP91-CNTF_ENST00000389919.4_Intron	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	564					activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				tctgattGAAGATTCAGACTC	0.448000													9	73					0	0	1	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51646053	51646053	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr19:51646053G>A	ENST00000317643.6	+	1	496	c.427G>A	c.(427-429)Gtg>Atg	p.V143M	SIGLEC7_ENST00000305628.7_Missense_Mutation_p.V143M|SIGLEC7_ENST00000600577.1_Missense_Mutation_p.V143M	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	143					cell adhesion	integral to plasma membrane	receptor activity|sugar binding	p.V143L(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		CTCTGTGAACGTGACAGGTAA	0.507000													10	79					0	0	1	0	0
ATP6V0C	527	broad.mit.edu	37	16	2569287	2569287	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr16:2569287G>C	ENST00000564543.1	+	2	1151	c.1034G>C	c.(1033-1035)gGa>gCa	p.G345A	ATP6V0C_ENST00000568562.1_Missense_Mutation_p.G32A|ATP6V0C_ENST00000565223.1_Missense_Mutation_p.E7Q|ATP6C_ENST00000569317.1_Intron|ATP6V0C_ENST00000564973.1_Missense_Mutation_p.E7Q|ATP6V0C_ENST00000330398.4_Missense_Mutation_p.E50Q														p.E50K(1)									CATGCGGCCGGAGCAGATCAT	0.622000													4	23					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9391691	9391691	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr20:9391691G>A	ENST00000378501.2	+	21	1986	c.1971G>A	c.(1969-1971)gcG>gcA	p.A657A	PLCB4_ENST00000334005.3_Silent_p.A657A|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Silent_p.A657A|PLCB4_ENST00000414679.2_Silent_p.A669A|PLCB4_ENST00000378473.3_Silent_p.A669A|PLCB4_ENST00000378493.1_Silent_p.A657A	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	657	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CAGATTTAGCGATGCAATTGA	0.373000													6	63					0	0	1	0	0
PRDM15	63977	broad.mit.edu	37	21	43242318	43242318	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr21:43242318C>G	ENST00000422911.1	-	16	2109	c.2008G>C	c.(2008-2010)Gac>Cac	p.D670H	PRDM15_ENST00000447207.2_Missense_Mutation_p.D613H|PRDM15_ENST00000269844.3_Missense_Mutation_p.D979H|PRDM15_ENST00000538201.1_Missense_Mutation_p.D633H|PRDM15_ENST00000398548.1_Missense_Mutation_p.D650H	NM_001282934.1	NP_001269863.1	P57071	PRD15_HUMAN	PR domain containing 15	979					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						TCAGAATTGTCATCGTTTTCT	0.572000													14	57					0	0	1	0	0
SPPL2C	162540	broad.mit.edu	37	17	43922687	43922687	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr17:43922687C>G	ENST00000329196.5	+	1	432	c.415C>G	c.(415-417)Ccc>Gcc	p.P139A	MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN	signal peptide peptidase like 2C	139						integral to membrane	aspartic-type endopeptidase activity										ACCCCAGGATCCCCGCCAGCC	0.652000													9	26					0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	210857360	210857360	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr1:210857360G>A	ENST00000367007.4	-	11	2321	c.2152C>T	c.(2152-2154)Cga>Tga	p.R718*	KCNH1_ENST00000271751.4_Nonsense_Mutation_p.R745*	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	745	Calmodulin-binding.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	p.R745*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TTCTGCTGTCGGAATCTCTGG	0.592000													4	27					0	0	1	0	0
CDK15	65061	broad.mit.edu	37	2	202688400	202688400	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr2:202688400G>A	ENST00000450471.2	+	6	642	c.556G>A	c.(556-558)Gcc>Acc	p.A186T	CDK15_ENST00000488419.1_Intron|CDK15_ENST00000410091.3_Missense_Mutation_p.A135T|CDK15_ENST00000260967.2_Missense_Mutation_p.A135T|CDK15_ENST00000374598.4_Missense_Mutation_p.A186T|CDK15_ENST00000434439.1_Missense_Mutation_p.A186T	NM_001261435.1	NP_001248364.1	Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	186	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	CACAGACCTGGCCCAGTATAT	0.473000													33	46					0	0	1	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3140107	3140107	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr16:3140107C>T	ENST00000252463.2	-	5	1250	c.1163G>A	c.(1162-1164)cGc>cAc	p.R388H	ZSCAN10_ENST00000538082.2_Missense_Mutation_p.R306H|ZSCAN10_ENST00000575108.1_Missense_Mutation_p.R49H	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	388					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						GCTGGCGCGGCGCTGGAAGCC	0.701000													5	16					0	0	1	0	0
RNF220	55182	broad.mit.edu	37	1	44878130	44878130	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr1:44878130C>T	ENST00000355387.2	+	2	811	c.361C>T	c.(361-363)Cgg>Tgg	p.R121W	RNF220_ENST00000372247.2_Missense_Mutation_p.R121W|RNF220_ENST00000361799.2_Missense_Mutation_p.R121W			Q5VTB9	RN220_HUMAN	ring finger protein 220	121					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						GGGGGCTTTCCGGCCCTTTGC	0.552000													12	92					0	0	1	0	0
RNF10	9921	broad.mit.edu	37	12	120995422	120995422	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr12:120995422G>T	ENST00000325954.4	+	6	1365	c.904G>T	c.(904-906)Ggg>Tgg	p.G302W	RNF10_ENST00000413266.2_Missense_Mutation_p.G302W	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	302					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAGGGAGAAAGGGGTGTTGGT	0.438000													10	108					0.0692343	0.0702406	1	1	0
KMT2D	8085	broad.mit.edu	37	12	49426105	49426105	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr12:49426105G>A	ENST00000301067.7	-	39	12382	c.12383C>T	c.(12382-12384)tCa>tTa	p.S4128L		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GGGCACAGATGAGGCCTCAGA	0.597000													5	19					0	0	1	0	0
SLC36A3	285641	broad.mit.edu	37	5	150682870	150682870	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr5:150682870C>T	ENST00000335230.3	-	1	457	c.46G>A	c.(46-48)Gac>Aac	p.D16N	SLC36A3_ENST00000377713.3_Missense_Mutation_p.D16N	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	16						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTCCGTTGTCCAAGGAGTTC	0.537000													7	40					0	0	1	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52704563	52704563	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr1:52704563C>T	ENST00000287727.3	+	4	1646	c.1474C>T	c.(1474-1476)Cca>Tca	p.P492S	ZFYVE9_ENST00000371591.1_Missense_Mutation_p.P492S|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.P492S			O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	492					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TTCTTTTGTTCCAAAGACTTT	0.363000													9	87					0	0	1	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070695	141070695	+	RNA	SNP	G	G	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr9:141070695G>A	ENST00000503395.1	+	0	1470																		p.R105H(1)									GCCAAGGGACGCTACACCGAA	0.592000													3	11					0	0	1	0	0
C11orf48	79081	broad.mit.edu	37	11	62435024	62435024	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr11:62435024G>A	ENST00000431002.2	-	2	2320	c.587C>T	c.(586-588)tCc>tTc	p.S196F	METTL12_ENST00000532971.1_3'UTR|C11orf48_ENST00000532208.1_Missense_Mutation_p.S170F|C11orf48_ENST00000354588.3_Missense_Mutation_p.S170F			Q9BQE6	CK048_HUMAN	chromosome 11 open reading frame 48	196										endometrium(1)|lung(5)|urinary_tract(1)	7						CAGGAGATGGGAATATTCCAC	0.478000													24	70					0	0	1	0	0
PSD4	23550	broad.mit.edu	37	2	113958790	113958790	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr2:113958790C>G	ENST00000441564.3	+	17	3051	c.2882C>G	c.(2881-2883)tCt>tGt	p.S961C	PSD4_ENST00000245796.6_Missense_Mutation_p.S990C			Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4						regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CACTGCCCCTCTGATGCTCTG	0.647000													30	90					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42837913	42837913	+	Nonsense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr19:42837913C>G	ENST00000334370.4	+	2	979	c.344C>G	c.(343-345)tCa>tGa	p.S115*	MEGF8_ENST00000251268.6_Nonsense_Mutation_p.S115*	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	115	CUB 1.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GAAGCTTCCTCAGGCAAGGTT	0.582000													17	39					0	0	1	0	0
DDX1	1653	broad.mit.edu	37	2	15744000	15744000	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr2:15744000G>C	ENST00000381341.2	+	10	927	c.538G>C	c.(538-540)Gat>Cat	p.D180H	DDX1_ENST00000233084.3_Missense_Mutation_p.D180H			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	180	B30.2/SPRY.|Helicase ATP-binding.|Necessary for interaction with HNRNPK.|Necessary for interaction with RELA.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		CAAACAATTTGATAATTATGG	0.318000													4	42					0	0	1	0	0
SLC26A3	1811	broad.mit.edu	37	7	107423683	107423683	+	Silent	SNP	G	G	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr7:107423683G>T	ENST00000340010.5	-	9	1270	c.1086C>A	c.(1084-1086)tcC>tcA	p.S362S	SLC26A3_ENST00000422236.2_Silent_p.S327S	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	362					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						CGTATTTGAGGGAATAGACGC	0.423000													6	85					0.00198382	0.00206672	1	1	0
ADCY6	112	broad.mit.edu	37	12	49164612	49164612	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr12:49164612G>A	ENST00000307885.4	-	19	3887	c.3193C>T	c.(3193-3195)Cgg>Tgg	p.R1065W	ADCY6_ENST00000357869.3_Missense_Mutation_p.R1012W|ADCY6_ENST00000550422.1_Missense_Mutation_p.R1012W	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	1065					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						TCCATGAGCCGCATGGCGTAG	0.552000													3	58					0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198265453	198265453	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr2:198265453C>T	ENST00000335508.6	-	18	2795	c.2704G>A	c.(2704-2706)Gaa>Aaa	p.E902K		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	p.E902K(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTAGTCTGTTCTTGGAAAGCA	0.318000			Mis		myelodysplastic syndrome								24	27					0	0	1	0	0
USP1	7398	broad.mit.edu	37	1	62914230	62914230	+	Silent	SNP	C	C	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr1:62914230C>T	ENST00000339950.4	+	8	2330	c.1515C>T	c.(1513-1515)ttC>ttT	p.F505F	USP1_ENST00000371146.1_Silent_p.F505F	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	505					DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		ATAAATATTTCTGTGAAAACT	0.358000													15	57					0	0	1	0	0
WHSC1	7468	broad.mit.edu	37	4	1976590	1976590	+	Splice_Site	SNP	G	G	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr4:1976590G>A	ENST00000382895.3	+	21	3804	c.3373G>A	c.(3373-3375)Gac>Aac	p.D1125N	WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000508803.1_Splice_Site_p.D1125N|WHSC1_ENST00000382888.3_Splice_Site_p.D473N|WHSC1_ENST00000382892.2_Splice_Site_p.D1125N|WHSC1_ENST00000382891.5_Splice_Site_p.D1125N	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	1125	SET.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GACCTTACAGGACCGTATAAT	0.428000			T	IGH@	MM								4	75					0	0	1	0	0
KIF20B	9585	broad.mit.edu	37	10	91468953	91468953	+	Silent	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr10:91468953C>G	ENST00000416354.1	+	3	249	c.177C>G	c.(175-177)ctC>ctG	p.L59L	KIF20B_ENST00000394289.2_Silent_p.L59L|KIF20B_ENST00000371728.3_Silent_p.L59L|KIF20B_ENST00000260753.4_Silent_p.L59L			Q96Q89	KI20B_HUMAN	kinesin family member 20B	59	Kinesin-motor.				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AAGATTATCTCCAGGTTTGTC	0.299000													8	69					0	0	1	0	0
SYTL3	94120	broad.mit.edu	37	6	159184536	159184536	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr6:159184536G>C	ENST00000297239.9	+	16	1912	c.1718G>C	c.(1717-1719)gGt>gCt	p.G573A	SYTL3_ENST00000360448.3_Missense_Mutation_p.G505A|SYTL3_ENST00000367081.3_Missense_Mutation_p.G299A			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	573					intracellular protein transport	endomembrane system|membrane	Rab GTPase binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		ACCAGACTTGGTTCAAGTAAG	0.478000													5	38					0	0	1	0	0
KBTBD8	84541	broad.mit.edu	37	3	67053835	67053835	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr3:67053835C>A	ENST00000295568.4	+	3	497	c.366C>A	c.(364-366)gaC>gaA	p.D122E	KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000469661.1_Intron|KBTBD8_ENST00000417314.2_Missense_Mutation_p.D148E	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	148										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		GTCATTTGGACCCACAGAATT	0.408000													20	89					2.4624e-09	2.71097e-09	1	1	0
PCDHGA3	56112	broad.mit.edu	37	5	140724776	140724776	+	Missense_Mutation	SNP	T	T	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr5:140724776T>A	ENST00000253812.6	+	1	1176	c.1176T>A	c.(1174-1176)ttT>ttA	p.F392L	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCTGCCATTTAAGTTAGAAA	0.443000													8	56					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6169928	6169928	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr1:6169928G>A	ENST00000262450.3	-	38	5604	c.5505C>T	c.(5503-5505)ctC>ctT	p.L1835L	CHD5_ENST00000378021.1_Silent_p.L692L	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1835					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GGCTCTCGGCGAGGCACTCCA	0.662000													7	54					0	0	1	0	0
DHX30	22907	broad.mit.edu	37	3	47890976	47890976	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr3:47890976C>G	ENST00000446256.2	+	21	3578	c.3006C>G	c.(3004-3006)ttC>ttG	p.F1002L	DHX30_ENST00000348968.4_Missense_Mutation_p.F1013L|DHX30_ENST00000457607.1_Missense_Mutation_p.F1069L|DHX30_ENST00000445061.1_Missense_Mutation_p.F1041L	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	1041						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AGGGGAAGTTCAAGCCCAACA	0.597000													13	27					0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70332214	70332214	+	Nonsense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr10:70332214C>G	ENST00000373644.4	+	2	328	c.119C>G	c.(118-120)tCa>tGa	p.S40*		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	40					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AATGTGGCATCAGTCAAGACT	0.393000													5	28					0	0	1	0	0
RBM27	54439	broad.mit.edu	37	5	145631409	145631409	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr5:145631409C>T	ENST00000265271.5	+	9	1581	c.1415C>T	c.(1414-1416)tCa>tTa	p.S472L	RBM27_ENST00000506502.1_Intron	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	472					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TACCATACCTCAGTCTCCAGC	0.547000													19	171					0	0	1	0	0
IGKV2D-29	28882	broad.mit.edu	37	2	89986959	89986959	+	RNA	SNP	C	C	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr2:89986959C>T	ENST00000491977.1	+	0	270																											CCAACCGGTTCTCTGGAGTGC	0.517000													8	76					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63932641	63932641	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr15:63932641G>A	ENST00000443617.2	-	61	11698	c.11611C>T	c.(11611-11613)Cat>Tat	p.H3871Y		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3871					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CAAACCACATGAGGCTAAAAC	0.398000													7	27					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14819368	14819368	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr9:14819368C>T	ENST00000380881.4	-	15	3228	c.2413G>A	c.(2413-2415)Gat>Aat	p.D805N	FREM1_ENST00000422223.2_Missense_Mutation_p.D804N|FREM1_ENST00000380880.3_Missense_Mutation_p.D804N			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	804					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GTATCTGCATCAGAAATTAGA	0.483000													6	22					0	0	1	0	0
DPP7	29952	broad.mit.edu	37	9	140006401	140006401	+	Silent	SNP	G	G	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr9:140006401G>T	ENST00000371579.2	-	10	1135	c.1131C>A	c.(1129-1131)ctC>ctA	p.L377L		NM_013379.2	NP_037511.2	Q9UHL4	DPP2_HUMAN	dipeptidyl-peptidase 7	377						cytoplasmic membrane-bounded vesicle|extracellular region|lysosome	aminopeptidase activity|protein binding|serine-type peptidase activity			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		ACCGCTGGCGGAGCTCGTCAG	0.667000													9	11					0.00621372	0.0063782	1	1	0
ACTR3C	653857	broad.mit.edu	37	7	149992349	149992349	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr7:149992349C>T	ENST00000539352.1	-	2	288	c.37G>A	c.(37-39)Gca>Aca	p.A13T	ACTR3C_ENST00000252071.4_Missense_Mutation_p.A13T	NM_001164458.1	NP_001157930.1	Q9C0K3	ARP3C_HUMAN	ARP3 actin-related protein 3 homolog C (yeast)	13					regulation of actin filament polymerization	cytoskeleton	actin binding|ATP binding										ACCTGAACTGCAATGTAGAGT	0.413000													7	31					0	0	1	0	0
LOC81691	81691	broad.mit.edu	37	16	20838440	20838440	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr16:20838440G>C	ENST00000261377.6	+	9	1091	c.882G>C	c.(880-882)caG>caC	p.Q294H	AC004381.6_ENST00000564274.1_Missense_Mutation_p.Q294H|AC004381.6_ENST00000348433.6_Missense_Mutation_p.Q294H|ERI2_ENST00000564349.1_Intron	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					AAGATGTACAGAGGCAGTTAA	0.413000													15	107					0	0	1	0	0
AP4S1	11154	broad.mit.edu	37	14	31549802	31549802	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr14:31549802C>G	ENST00000216366.4	+	5	526	c.318C>G	c.(316-318)ttC>ttG	p.F106L	AP4S1_ENST00000554609.1_Intron|AP4S1_ENST00000554345.1_Intron|AP4S1_ENST00000313566.6_Intron|AP4S1_ENST00000334725.4_Missense_Mutation_p.F106L|AP4S1_ENST00000542754.2_Intron	NM_007077.4	NP_009008.2	Q9Y587	AP4S1_HUMAN	adaptor-related protein complex 4, sigma 1 subunit	5						coated pit|Golgi apparatus	protein transporter activity			lung(1)	1	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.221)	GBM - Glioblastoma multiforme(265;0.00553)		TATCCTTTTTCAATACTGTTT	0.428000													6	60					0	0	1	0	0
THRA	7067	broad.mit.edu	37	17	38249335	38249335	+	Silent	SNP	G	G	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr17:38249335G>T	ENST00000264637.4	+	10	1753	c.1173G>T	c.(1171-1173)ggG>ggT	p.G391G	THRA_ENST00000584985.1_Intron|NR1D1_ENST00000246672.3_3'UTR|THRA_ENST00000394121.4_Silent_p.G391G	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	391					negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	GGCCGGGCGGGTCACTGGGCG	0.577000													13	31					0.11911	0.120491	1	1	0
DOCK9	23348	broad.mit.edu	37	13	99459947	99459947	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr13:99459947C>G	ENST00000376460.1	-	51	5604	c.5524G>C	c.(5524-5526)Gaa>Caa	p.E1842Q	DOCK9_ENST00000339416.2_Missense_Mutation_p.E1829Q	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1843	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTGACATTTTCAGAACCAAAT	0.343000													11	49					0	0	1	0	0
TUBGCP4	27229	broad.mit.edu	37	15	43695943	43695943	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr15:43695943G>A	ENST00000564079.1	+	16	2034	c.1794G>A	c.(1792-1794)caG>caA	p.Q598Q	TUBGCP4_ENST00000399460.3_3'UTR|TUBGCP4_ENST00000260383.7_Silent_p.Q599Q	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	599					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		TGGTCAGTCAGAACCTAGGCC	0.532000													5	29					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390572	197390572	+	Silent	SNP	A	A	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr1:197390572A>G	ENST00000367400.3	+	6	1749	c.1614A>G	c.(1612-1614)ctA>ctG	p.L538L	CRB1_ENST00000367399.2_Silent_p.L426L|CRB1_ENST00000543483.1_Silent_p.L237L|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000544212.1_Silent_p.L19L|CRB1_ENST00000535699.1_Silent_p.L469L|CRB1_ENST00000538660.1_Silent_p.L538L	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	538	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGGAGCTGCTAAGTGGCTACA	0.463000													20	67					0	0	1	0	0
PEX1	5189	broad.mit.edu	37	7	92148326	92148326	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr7:92148326C>T	ENST00000248633.4	-	3	435	c.340G>A	c.(340-342)Gat>Aat	p.D114N	PEX1_ENST00000428214.1_Missense_Mutation_p.D114N|PEX1_ENST00000438045.1_Intron	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	114					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TCCCAATCATCTGCTGAGAGG	0.323000													7	47					0	0	1	0	0
NUMA1	4926	broad.mit.edu	37	11	71726658	71726658	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr11:71726658G>A	ENST00000393695.3	-	15	2222	c.1891C>T	c.(1891-1893)Cgg>Tgg	p.R631W	RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000358965.6_Missense_Mutation_p.R631W|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	631					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GCACTGTCCCGGGCTTCATTA	0.622000			T	RARA	APL								12	47					0	0	1	0	0
TRIM39	56658	broad.mit.edu	37	6	30297475	30297475	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr6:30297475G>C	ENST00000376659.5	+	3	979	c.381G>C	c.(379-381)ttG>ttC	p.L127F	TRIM39_ENST00000396547.1_Missense_Mutation_p.L127F|TRIM39-RPP21_ENST00000513556.1_Missense_Mutation_p.L39F|TRIM39_ENST00000540416.1_Missense_Mutation_p.L127F|TRIM39_ENST00000396548.1_Missense_Mutation_p.L127F|TRIM39_ENST00000396551.3_Missense_Mutation_p.L127F|TRIM39_ENST00000376656.4_Missense_Mutation_p.L127F	NM_172016.2	NP_742013.1			tripartite motif containing 39											ovary(3)	3						CTGTATGCTTGATATGTGCAA	0.572000													5	42					0	0	1	0	0
IGSF11	152404	broad.mit.edu	37	3	118647533	118647533	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr3:118647533C>G	ENST00000354673.2	-	5	624	c.244G>C	c.(244-246)Gat>Cat	p.D82H	IGSF11_ENST00000393775.2_Missense_Mutation_p.D83H|IGSF11_ENST00000489689.1_Missense_Mutation_p.D83H|IGSF11_ENST00000441144.2_Missense_Mutation_p.D82H|IGSF11_ENST00000425327.2_Missense_Mutation_p.D82H|IGSF11_ENST00000491903.1_Missense_Mutation_p.D83H|IGSF11_ENST00000459718.1_5'UTR	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	83	Ig-like V-type.				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGGGCACCATCAAACATCTGT	0.438000													3	23					0	0	1	0	0
RPLP0P6	220717	broad.mit.edu	37	2	38709239	38709239	+	RNA	SNP	T	T	C	rs112834477		TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr2:38709239T>C	ENST00000417039.1	-	0	696																											GCCTCATATCTGGGGGAATGT	0.567000													8	57					0	0	1	0	0
TAF4B	6875	broad.mit.edu	37	18	23866291	23866291	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr18:23866291A>G	ENST00000269142.5	+	7	2416	c.1418A>G	c.(1417-1419)gAa>gGa	p.E473G	TAF4B_ENST00000400466.2_Missense_Mutation_p.E473G|TAF4B_ENST00000578121.1_Missense_Mutation_p.E473G	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	473					transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			ACTTTTGGAGAAACTTCAGGT	0.473000													12	81					0	0	1	0	0
SIRT1	23411	broad.mit.edu	37	10	69648681	69648681	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr10:69648681G>C	ENST00000212015.6	+	3	642	c.589G>C	c.(589-591)Gat>Cat	p.D197H	SIRT1_ENST00000497639.1_3'UTR|SIRT1_ENST00000432464.1_Intron	NM_012238.4	NP_036370.2	Q96EB6	SIRT1_HUMAN	sirtuin 1	197	Interaction with HIST1H1E.				apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						GATTGGCACAGATCCTCGAAC	0.353000													14	69					0	0	1	0	0
PRNP	5621	broad.mit.edu	37	20	4680302	4680302	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr20:4680302G>C	ENST00000379440.4	+	2	723	c.436G>C	c.(436-438)Gag>Cag	p.E146Q	PRNP_ENST00000430350.2_Missense_Mutation_p.E146Q	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	P04156	PRIO_HUMAN	prion protein	146	Interaction with GRB2, ERI3 and SYN1 (By similarity).				axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14					Tetracycline(DB00759)	CAGTGACTATGAGGACCGTTA	0.557000													7	29					0	0	1	0	0
UBR2	23304	broad.mit.edu	37	6	42652567	42652567	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr6:42652567C>T	ENST00000372899.1	+	44	5069	c.4811C>T	c.(4810-4812)cCa>cTa	p.P1604L	UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372901.1_Missense_Mutation_p.P1604L	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1604					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			ATAAACCTTCCAGAGGATTAC	0.348000													6	78					0	0	1	0	0
ISOC2	79763	broad.mit.edu	37	19	55966378	55966378	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr19:55966378G>A	ENST00000438389.2	-	4	1139	c.305C>T	c.(304-306)gCc>gTc	p.A102V	ISOC2_ENST00000425675.2_Missense_Mutation_p.A172V|ISOC2_ENST00000085068.3_Missense_Mutation_p.A188V	NM_001136202.1	NP_001129674.1	Q96AB3	ISOC2_HUMAN	isochorismatase domain containing 2	172					protein destabilization	mitochondrion|nucleus	catalytic activity|protein binding			endometrium(1)|lung(4)|ovary(1)|stomach(1)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0535)		GGGGTGGACGGCATCGCCCAC	0.622000											OREG0025682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	43					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126242391	126242391	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr4:126242391G>A	ENST00000394329.3	+	1	4838	c.4825G>A	c.(4825-4827)Gaa>Aaa	p.E1609K		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1609	Cadherin 15.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCTTGGGCCTGAAAGGAGGAA	0.433000													5	88					0	0	1	0	0
TARBP1	6894	broad.mit.edu	37	1	234595026	234595026	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr1:234595026C>T	ENST00000040877.1	-	8	1581	c.1582G>A	c.(1582-1584)Ggg>Agg	p.G528R		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	528					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TGGGCTGCCCCTCTCAGGAGA	0.388000													19	44					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63483575	63483575	+	Translation_Start_Site	SNP	G	G	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr14:63483575G>A	ENST00000394968.1	-	0	164				KCNH5_ENST00000322893.7_Silent_p.D57D|KCNH5_ENST00000420622.2_Silent_p.D57D|KCNH5_ENST00000394964.2_De_novo_Start_OutOfFrame			Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5						regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TCTGCATGACGTCAGCTCGAT	0.368000													18	55					0	0	1	0	0
ZNF750	79755	broad.mit.edu	37	17	80789424	80789424	+	Missense_Mutation	SNP	C	C	T	rs34566230		TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr17:80789424C>T	ENST00000269394.3	-	2	1740	c.907G>A	c.(907-909)Gat>Aat	p.D303N	TBCD_ENST00000355528.4_Intron|TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	303						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CTGTAGTGATCGTATGTGGCT	0.552000													19	193					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32724793	32724793	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr2:32724793C>T	ENST00000421745.2	+	46	8782	c.8648C>T	c.(8647-8649)tCa>tTa	p.S2883L		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2883					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AGAAGTGGATCAGATAGCTCC	0.443000													15	179					0	0	1	0	0
RAD51	5888	broad.mit.edu	37	15	41023350	41023350	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr15:41023350G>A	ENST00000267868.3	+	10	1262	c.994G>A	c.(994-996)Gat>Aat	p.D332N	RAD51_ENST00000532743.1_Missense_Mutation_p.D333N|RAD51_ENST00000423169.2_3'UTR|RAD51_ENST00000530766.1_3'UTR|RAD51_ENST00000382643.3_Missense_Mutation_p.D333N|RAD51_ENST00000557850.1_Missense_Mutation_p.D235N	NM_002875.4	NP_002866.2	Q06609	RAD51_HUMAN	RAD51 recombinase	332					DNA recombinase assembly|DNA unwinding involved in replication|mitotic recombination|positive regulation of DNA ligation|protein homooligomerization|reciprocal meiotic recombination	mitochondrial matrix|nucleus|perinuclear region of cytoplasm|PML body	ATP binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|protein C-terminus binding|single-stranded DNA binding|single-stranded DNA-dependent ATPase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)		CATTAATGCAGATGGAGTGGG	0.463000								Homologous recombination					10	54					0	0	1	0	0
SPICE1	152185	broad.mit.edu	37	3	113212124	113212124	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr3:113212124G>A	ENST00000295872.4	-	6	680	c.421C>T	c.(421-423)Cag>Tag	p.Q141*		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	141					cell division|mitosis	centriole|spindle	protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						ATGGGACCCTGAGAGGAATCA	0.393000													6	38					0	0	1	0	0
LACC1	144811	broad.mit.edu	37	13	44455643	44455643	+	Silent	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr13:44455643G>C	ENST00000441843.1	+	2	1007	c.522G>C	c.(520-522)ctG>ctC	p.L174L	LACC1_ENST00000325686.6_Silent_p.L174L	NM_001128303.1	NP_001121775.1	Q8IV20	CM031_HUMAN	laccase (multicopper oxidoreductase) domain containing 1	174																	TGCCAGCACTGAGAGGAAAAT	0.333000													5	42					0	0	1	0	0
NUP107	57122	broad.mit.edu	37	12	69128497	69128497	+	Nonsense_Mutation	SNP	G	G	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr12:69128497G>T	ENST00000229179.4	+	25	2604	c.2272G>T	c.(2272-2274)Gaa>Taa	p.E758*	NUP107_ENST00000378905.2_Nonsense_Mutation_p.E519*|NUP107_ENST00000401003.3_Intron|NUP107_ENST00000539906.1_Nonsense_Mutation_p.E729*	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	758					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			GGAAGCCCATGAAACCTTTAA	0.303000													11	83					0.00010058	0.000106371	1	1	0
TLN1	7094	broad.mit.edu	37	9	35717149	35717149	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr9:35717149C>T	ENST00000314888.9	-	19	2805	c.2452G>A	c.(2452-2454)Gat>Aat	p.D818N	TLN1_ENST00000540444.1_Missense_Mutation_p.D818N	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	818					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TTACCAGCATCACCCATGGAG	0.557000													7	63					0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14791409	14791409	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr18:14791409G>C	ENST00000358984.4	+	16	1924	c.1744G>C	c.(1744-1746)Gag>Cag	p.E582Q	ANKRD30B_ENST00000447268.2_Missense_Mutation_p.E582Q|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	582										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GAGTCCCTGTGAGACGGTTTC	0.279000													3	52					0	0	1	0	0
ATF7IP	55729	broad.mit.edu	37	12	14650988	14650988	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr12:14650988C>T	ENST00000544627.1	+	15	4138	c.3818C>T	c.(3817-3819)tCt>tTt	p.S1273F	ATF7IP_ENST00000261168.4_Missense_Mutation_p.S1265F|ATF7IP_ENST00000540793.1_Missense_Mutation_p.S1265F|ATF7IP_ENST00000536444.1_Missense_Mutation_p.S1264F			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	1265					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	p.S1265C(1)		cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						GATGTGATCTCTTCTACCCAG	0.393000													13	190					0	0	1	0	0
PBRM1	55193	broad.mit.edu	37	3	52678807	52678807	+	Splice_Site	SNP	T	T	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr3:52678807T>C	ENST00000356770.4	-	8	816		c.e8-2		PBRM1_ENST00000394830.3_Splice_Site|PBRM1_ENST00000337303.4_Splice_Site|PBRM1_ENST00000410007.1_Splice_Site|PBRM1_ENST00000409767.1_Splice_Site|PBRM1_ENST00000409114.3_Splice_Site|PBRM1_ENST00000409057.1_Splice_Site|PBRM1_ENST00000296302.7_Splice_Site			Q86U86	PB1_HUMAN	polybromo 1						chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATTTGCATCCTGTCAAGATAA	0.338000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								11	17					0	0	1	0	0
GABRG2	2566	broad.mit.edu	37	5	161530907	161530907	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr5:161530907G>A	ENST00000356592.3	+	6	1104	c.644G>A	c.(643-645)cGt>cAt	p.R215H	GABRG2_ENST00000414552.2_Missense_Mutation_p.R255H|GABRG2_ENST00000361925.4_Missense_Mutation_p.R215H|GABRG2_ENST00000393933.4_Missense_Mutation_p.R120H	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	215					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		GGCTATCCACGTGAAGAAATT	0.383000													14	39					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120574332	120574332	+	Nonsense_Mutation	SNP	C	C	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr12:120574332C>A	ENST00000300648.6	-	51	6994	c.6982G>T	c.(6982-6984)Gag>Tag	p.E2328*		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2328					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGAGTGTCTCGAGCAGAGCC	0.567000													10	27					2.17888e-05	2.32547e-05	1	1	0
USP1	7398	broad.mit.edu	37	1	62910742	62910742	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr1:62910742G>C	ENST00000339950.4	+	6	1706	c.891G>C	c.(889-891)caG>caC	p.Q297H	USP1_ENST00000371146.1_Missense_Mutation_p.Q297H	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	297					DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		AAGAGAACCAGAGACAAACTA	0.348000													5	56					0	0	1	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100692856	100692856	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr15:100692856G>A	ENST00000268070.4	-	10	1539	c.1434C>T	c.(1432-1434)atC>atT	p.I478I		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	478	Disintegrin.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		TGCCAAACAGGATCTGGCACT	0.612000													10	63					0	0	1	0	0
OR6C3	254786	broad.mit.edu	37	12	55725553	55725553	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr12:55725553G>A	ENST00000379667.1	+	1	69	c.69G>A	c.(67-69)gtG>gtA	p.V23V		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TTCAGATTGTGATTTTTCTCT	0.423000													21	55					0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2376160	2376160	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr16:2376160T>C	ENST00000301732.5	-	5	870	c.170A>G	c.(169-171)tAc>tGc	p.Y57C	ABCA3_ENST00000382381.3_Missense_Mutation_p.Y57C|ABCA3_ENST00000567910.1_Missense_Mutation_p.Y57C	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	57					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CTGGCCCGGGTAGATGGTGGC	0.577000													11	35					0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14752673	14752673	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr18:14752673G>A	ENST00000358984.4	+	2	510	c.330G>A	c.(328-330)ctG>ctA	p.L110L	ANKRD30B_ENST00000447268.2_Silent_p.L110L|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	110										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GGACACCTCTGATGAAGGTAA	0.393000													3	21					0	0	1	0	0
C1QTNF7	114905	broad.mit.edu	37	4	15444145	15444145	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr4:15444145G>C	ENST00000295297.4	+	3	872	c.613G>C	c.(613-615)Gat>Cat	p.D205H	C1QTNF7_ENST00000444304.2_Missense_Mutation_p.D198H|C1QTNF7_ENST00000429690.1_Missense_Mutation_p.D198H	NM_001135170.1	NP_001128642.1	Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	198	C1q.					collagen				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						CTTTTCTTATGATATCACATT	0.448000													37	135					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115750954	115750954	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr4:115750954C>A	ENST00000264363.2	-	13	3169	c.2491G>T	c.(2491-2493)Gat>Tat	p.D831Y		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	831	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ACCTCTGGATCCATAGGTGGA	0.343000													11	51					3.07112e-06	3.29791e-06	1	1	0
ANKMY1	51281	broad.mit.edu	37	2	241439947	241439947	+	Silent	SNP	C	C	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr2:241439947C>A	ENST00000391987.1	-	14	2661	c.2295G>T	c.(2293-2295)ctG>ctT	p.L765L	ANKMY1_ENST00000373318.2_Silent_p.L544L|ANKMY1_ENST00000272972.3_Silent_p.L765L|ANKMY1_ENST00000401804.1_Silent_p.L854L|ANKMY1_ENST00000373320.4_Silent_p.L535L|ANKMY1_ENST00000406958.1_Silent_p.L526L|ANKMY1_ENST00000361678.4_Silent_p.L541L|ANKMY1_ENST00000403283.1_Silent_p.L667L	NM_001282771.1	NP_001269700.1	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	765							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		TTACAGGCTTCAGGATGTCGG	0.567000													11	33					3.07112e-06	3.29791e-06	1	1	0
CCDC138	165055	broad.mit.edu	37	2	109455740	109455740	+	Silent	SNP	C	C	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr2:109455740C>T	ENST00000295124.4	+	11	1366	c.1306C>T	c.(1306-1308)Cta>Tta	p.L436L	CCDC138_ENST00000412964.2_Silent_p.L436L	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	436										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						CCTAAGGCAGCTAGATGCTGG	0.358000													10	104					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215919341	215919341	+	Nonsense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr2:215919341G>C	ENST00000272895.7	-	4	584	c.365C>G	c.(364-366)tCa>tGa	p.S122*		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	122					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GCTCTGGAATGATAAACTGCT	0.393000													49	81					0	0	1	0	0
DZANK1	55184	broad.mit.edu	37	20	18414394	18414394	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr20:18414394C>T	ENST00000357236.4	-	10	1080	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	DZANK1_ENST00000329494.5_Missense_Mutation_p.E257K|DZANK1_ENST00000358866.6_Missense_Mutation_p.E255K|DZANK1_ENST00000262547.5_Missense_Mutation_p.E255K|DZANK1_ENST00000487128.1_5'UTR			Q9NVP4	CT012_HUMAN	double zinc ribbon and ankyrin repeat domains 1	82						intracellular	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						CTTCTGCATTCTGCACACAAG	0.478000													8	30					0	0	1	0	0
HEATR6	63897	broad.mit.edu	37	17	58137307	58137307	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr17:58137307G>C	ENST00000184956.6	-	10	1583	c.1567C>G	c.(1567-1569)Ctt>Gtt	p.L523V	HEATR6_ENST00000585976.1_Missense_Mutation_p.L523V	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	523							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			GCTAACAAAAGACATCTGTGC	0.458000													16	216					0	0	1	0	0
RPGR	6103	broad.mit.edu	37	X	38182778	38182778	+	Splice_Site	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chrX:38182778C>G	ENST00000378505.2	-	2	205		c.e2-1		RPGR_ENST00000309513.3_Splice_Site|RPGR_ENST00000339363.3_Splice_Site|RPGR_ENST00000318842.7_Splice_Site|RPGR_ENST00000342811.3_Splice_Site|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000338898.3_Splice_Site	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator						intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						GCACCCGAATCTGCAAATATA	0.323000													12	40					0	0	1	0	0
GAB4	128954	broad.mit.edu	37	22	17472959	17472959	+	Silent	SNP	G	G	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr22:17472959G>T	ENST00000400588.1	-	2	389	c.282C>A	c.(280-282)atC>atA	p.I94I	GAB4_ENST00000523144.1_5'UTR	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	94	PH.									breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GGTTCAGGTTGATGGTGCGCA	0.498000													23	159					5.35047e-06	5.72796e-06	1	1	0
ZNF385D	79750	broad.mit.edu	37	3	21606081	21606081	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr3:21606081C>A	ENST00000281523.2	-	3	779	c.261G>T	c.(259-261)ttG>ttT	p.L87F	ZNF385D_ENST00000494118.1_5'UTR|ZNF385D-AS1_ENST00000412369.1_RNA	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	87						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						AATTAAATCTCAACTGGCAAA	0.343000													4	52					2.56e-06	2.77466e-06	1	1	0
DBNDD1	79007	broad.mit.edu	37	16	90076391	90076391	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr16:90076391C>A	ENST00000304733.3	-	1	138	c.65G>T	c.(64-66)aGa>aTa	p.R22I	DBNDD1_ENST00000002501.6_Intron|DBNDD1_ENST00000568838.1_Intron|DBNDD1_ENST00000392973.3_5'UTR	NM_024043.2	NP_076948.2	Q9H9R9	DBND1_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 1	0						cytoplasm				kidney(1)|large_intestine(1)|lung(1)	3		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0275)		GCCTGCCATTCTGTGATCCCT	0.383000													8	48					0.00621372	0.0063782	1	1	0
PIK3CD	5293	broad.mit.edu	37	1	9775628	9775628	+	Silent	SNP	G	G	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr1:9775628G>T	ENST00000536656.1	+	4	379	c.171G>T	c.(169-171)ccG>ccT	p.P57P	PIK3CD_ENST00000361110.2_Silent_p.P57P|PIK3CD_ENST00000377346.4_Silent_p.P57P			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	57					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		AGTATGAGCCGCTCTTCCACA	0.647000													7	16					8.12818e-05	8.6223e-05	1	1	0
GLIS3	169792	broad.mit.edu	37	9	4125859	4125859	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr9:4125859C>T	ENST00000324333.10	-	2	199	c.6G>A	c.(4-6)atG>atA	p.M2I	GLIS3_ENST00000381971.3_Missense_Mutation_p.M157I	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	2					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GTCGCTGAACCATCATGGGAC	0.507000													40	42					0	0	1	0	0
CCDC83	220047	broad.mit.edu	37	11	85593579	85593579	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr11:85593579G>C	ENST00000280245.4	+	4	716	c.204G>C	c.(202-204)caG>caC	p.Q68H	CCDC83_ENST00000376067.1_Missense_Mutation_p.Q25H|CCDC83_ENST00000529676.2_Intron|CCDC83_ENST00000342404.3_Missense_Mutation_p.Q68H	NM_173556.3	NP_775827.2	Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	68										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				AAGAAGAACAGATTTGGCACA	0.388000													9	75					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62289579	62289579	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr11:62289579C>T	ENST00000378024.4	-	5	12584	c.12310G>A	c.(12310-12312)Gat>Aat	p.D4104N	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4104					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCATGAATATCAATATCAGGA	0.468000													18	170					0	0	1	0	0
NOL11	25926	broad.mit.edu	37	17	65714108	65714108	+	Silent	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr17:65714108G>C	ENST00000253247.4	+	1	160	c.45G>C	c.(43-45)ctG>ctC	p.L15L	NOL11_ENST00000581966.1_3'UTR|NOL11_ENST00000535137.1_5'UTR	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	15						nucleolus				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			CGGTAGTCCTGAGCGCCGGGC	0.567000											OREG0024682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	43					0	0	1	0	0
POLR1E	64425	broad.mit.edu	37	9	37492689	37492689	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr9:37492689C>G	ENST00000377792.3	+	4	853	c.565C>G	c.(565-567)Cag>Gag	p.Q189E	POLR1E_ENST00000442009.2_Missense_Mutation_p.Q57E|POLR1E_ENST00000377798.4_Missense_Mutation_p.Q127E			Q9GZS1	RPA49_HUMAN	polymerase (RNA) I polypeptide E, 53kDa	189					rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		GCTAGAGAGTCAGACCAAAAC	0.398000													23	34					0	0	1	0	0
ANKHD1	54882	broad.mit.edu	37	5	139876176	139876176	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr5:139876176C>T	ENST00000297183.6	+	15	2441	c.2317C>T	c.(2317-2319)Cag>Tag	p.Q773*	ANKHD1_ENST00000360839.2_Nonsense_Mutation_p.Q773*|ANKHD1-EIF4EBP3_ENST00000532219.1_Nonsense_Mutation_p.Q773*	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACCCATACCAGCCTTTGGA	0.443000													6	62					0	0	1	0	0
ZNF345	25850	broad.mit.edu	37	19	37368723	37368723	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr19:37368723C>A	ENST00000529555.1	+	2	1779	c.991C>A	c.(991-993)Cag>Aag	p.Q331K	ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000420450.1_Missense_Mutation_p.Q331K|ZNF345_ENST00000589046.1_Missense_Mutation_p.Q331K			Q14585	ZN345_HUMAN	zinc finger protein 345	331					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAAACTTATTCAGCATCAAAG	0.408000													9	70					0.00448238	0.00464199	1	1	0
USP34	9736	broad.mit.edu	37	2	61597635	61597635	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr2:61597635C>G	ENST00000398571.2	-	9	1232	c.1156G>C	c.(1156-1158)Gag>Cag	p.E386Q		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	386					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)			CCACAAACCTCAATATGTAAA	0.308000													8	92					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152325342	152325342	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr1:152325342C>G	ENST00000388718.5	-	3	4992	c.4920G>C	c.(4918-4920)caG>caC	p.Q1640H	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1640							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGACCCTCTCTGTGTGGACT	0.507000													46	345					0	0	1	0	0
TSEN2	80746	broad.mit.edu	37	3	12560569	12560569	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr3:12560569G>A	ENST00000444864.1	+	7	1281	c.894G>A	c.(892-894)acG>acA	p.T298T	TSEN2_ENST00000383797.5_Silent_p.T307T|TSEN2_ENST00000415684.1_Silent_p.T298T|TSEN2_ENST00000454502.2_Silent_p.T265T|TSEN2_ENST00000284995.6_Silent_p.T324T|TSEN2_ENST00000314571.7_Silent_p.T298T|TSEN2_ENST00000402228.3_Silent_p.T324T|C3orf83_ENST00000567514.1_Intron	NM_001145395.1	NP_001138867.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	324					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						AGCCTTTAACGATAGTGAAGC	0.438000													9	80					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39800619	39800619	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr1:39800619G>A	ENST00000564288.1	+	37	9136	c.8359G>A	c.(8359-8361)Gaa>Aaa	p.E2787K	MACF1_ENST00000289893.4_Missense_Mutation_p.E1227K|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.E2824K|MACF1_ENST00000372915.3_Missense_Mutation_p.E2792K|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2792					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATTACAAAATGAATTTCTAGG	0.348000													4	170					0	0	1	0	0
SPAG1	6674	broad.mit.edu	37	8	101196920	101196920	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr8:101196920C>G	ENST00000388798.2	+	7	851	c.660C>G	c.(658-660)ttC>ttG	p.F220L	SPAG1_ENST00000251809.3_Missense_Mutation_p.F220L|SPAG1_ENST00000520643.1_Missense_Mutation_p.F220L|SPAG1_ENST00000520508.1_Missense_Mutation_p.F220L	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	220					single fertilization	cytoplasm	GTP binding|hydrolase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		ATGAAGCTTTCAACTCAGGAG	0.328000													3	27					0	0	1	0	0
STAM2	10254	broad.mit.edu	37	2	153004799	153004799	+	Silent	SNP	T	T	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr2:153004799T>C	ENST00000263904.4	-	3	490	c.141A>G	c.(139-141)ctA>ctG	p.L47L	STAM2_ENST00000465460.1_5'UTR	NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	47	VHS.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		TTATGGCTTTTAGGCAATCTT	0.303000													29	42					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34015080	34015080	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr15:34015080G>A	ENST00000389232.4	+	44	6854	c.6784G>A	c.(6784-6786)Gga>Aga	p.G2262R	RYR3_ENST00000415757.3_Missense_Mutation_p.G2262R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2262	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCCCTCTCAAGGATACAAAAG	0.537000													20	73					0	0	1	0	0
ZNF570	148268	broad.mit.edu	37	19	37966852	37966852	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr19:37966852C>T	ENST00000330173.1	+	3	632	c.103C>T	c.(103-105)Caa>Taa	p.Q35*	ZNF570_ENST00000586475.1_Nonsense_Mutation_p.Q91*|ZNF570_ENST00000388801.3_5'UTR	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	35	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGATTCTTCTCAAAGACATCT	0.418000													8	105					0	0	1	0	0
USP54	159195	broad.mit.edu	37	10	75277427	75277427	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr10:75277427G>A	ENST00000339859.4	-	19	2857	c.2757C>T	c.(2755-2757)gcC>gcT	p.A919A	RP11-137L10.6_ENST00000600206.1_RNA|USP54_ENST00000394811.2_Silent_p.A7A|RP11-137L10.6_ENST00000597958.1_RNA|USP54_ENST00000408019.1_Silent_p.A919A|USP54_ENST00000428547.1_Silent_p.A769A|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000422491.2_Silent_p.A101A|RP11-137L10.6_ENST00000595069.1_RNA|RP11-137L10.6_ENST00000593790.1_RNA			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	919					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					AGAAAGAACTGGCCCCAAACT	0.512000													10	41					0	0	1	0	0
NKIRAS2	28511	broad.mit.edu	37	17	40174613	40174613	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr17:40174613G>T	ENST00000479407.1	+	4	335	c.194G>T	c.(193-195)tGg>tTg	p.W65L	NKIRAS2_ENST00000316082.4_Silent_p.V97V|NKIRAS2_ENST00000462043.2_Intron|NKIRAS2_ENST00000393880.1_Silent_p.V97V|NKIRAS2_ENST00000393884.2_Silent_p.V95V|NKIRAS2_ENST00000393881.3_Silent_p.V97V|NKIRAS2_ENST00000307641.5_Silent_p.V97V|NKIRAS2_ENST00000449471.4_Intron|NKIRAS2_ENST00000393885.4_Silent_p.V97V	NM_001144929.1	NP_001138401.1	Q9NYR9	KBRS2_HUMAN	NFKB inhibitor interacting Ras-like 2	0	Small GTPase-like.				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity			large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	9		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)				TTCAGCGTGTGGAGCTGCTCA	0.552000													6	28					0.0215528	0.0219298	1	1	0
LMOD3	56203	broad.mit.edu	37	3	69168102	69168102	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr3:69168102C>A	ENST00000420581.2	-	2	1583	c.1404G>T	c.(1402-1404)atG>atT	p.M468I	LMOD3_ENST00000489031.1_Missense_Mutation_p.M468I|LMOD3_ENST00000475434.1_Missense_Mutation_p.M468I	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	468						cytoplasm|cytoskeleton	tropomyosin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		GCTTTTTCATCATTTCACTGC	0.557000													11	15					4.36969e-10	4.84134e-10	1	1	0
FKBP14	55033	broad.mit.edu	37	7	30066098	30066098	+	Silent	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr7:30066098G>C	ENST00000222803.5	-	1	202	c.27C>G	c.(25-27)gtC>gtG	p.V9V		NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14, 22 kDa	9					protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|large_intestine(2)|lung(2)	5						ACAGAGTCAAGACCGCGTTCC	0.458000													16	51					0	0	1	0	0
MOV10	4343	broad.mit.edu	37	1	113236709	113236709	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr1:113236709G>C	ENST00000369644.1	+	9	2071	c.1042G>C	c.(1042-1044)Gag>Cag	p.E348Q	MOV10_ENST00000357443.2_Missense_Mutation_p.E404Q|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000413052.2_Missense_Mutation_p.E404Q|MOV10_ENST00000369645.1_Missense_Mutation_p.E404Q			Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog (mouse)	404					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		TTTGTCCTCGGAGACACACCA	0.557000													6	52					0	0	1	0	0
ZNF92	168374	broad.mit.edu	37	7	64863787	64863787	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr7:64863787G>C	ENST00000328747.7	+	4	959	c.760G>C	c.(760-762)Gag>Cag	p.E254Q	ZNF92_ENST00000357512.2_Missense_Mutation_p.E222Q|ZNF92_ENST00000450302.2_Missense_Mutation_p.E185Q|ZNF92_ENST00000431504.1_Missense_Mutation_p.E178Q	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	254						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				TCATACTGGAGAGAAACCCTA	0.353000													13	109					0	0	1	0	0
USP35	57558	broad.mit.edu	37	11	77911274	77911274	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr11:77911274C>A	ENST00000529308.1	+	5	1293	c.1032C>A	c.(1030-1032)ttC>ttA	p.F344L	USP35_ENST00000530267.1_Intron|USP35_ENST00000530535.1_Intron|USP35_ENST00000526425.1_Missense_Mutation_p.F75L|USP35_ENST00000441408.2_5'UTR	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	344					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.F344F(1)|p.F100F(1)		endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			ACGAAGCCTTCCACCTGGTAA	0.627000													4	28					0.217242	0.218494	1	1	0
GSE1	23199	broad.mit.edu	37	16	85699698	85699698	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr16:85699698G>C	ENST00000253458.7	+	13	3051	c.2875G>C	c.(2875-2877)Gag>Cag	p.E959Q	GSE1_ENST00000405402.2_Missense_Mutation_p.E855Q|GSE1_ENST00000393243.1_Missense_Mutation_p.E886Q	NM_014615.2	NP_055430.1			Gse1 coiled-coil protein																		CCGGCCCCAGGAGCTGTCGAG	0.607000													4	36					0	0	1	0	0
GATAD2A	54815	broad.mit.edu	37	19	19613269	19613269	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr19:19613269G>C	ENST00000404158.1	+	13	2126	c.1708G>C	c.(1708-1710)Gag>Cag	p.E570Q	GATAD2A_ENST00000252577.5_Missense_Mutation_p.E544Q|GATAD2A_ENST00000358713.3_Missense_Mutation_p.E569Q|GATAD2A_ENST00000360315.3_Missense_Mutation_p.E569Q|GATAD2A_ENST00000537887.1_Missense_Mutation_p.E198Q|GATAD2A_ENST00000429563.2_Missense_Mutation_p.E372Q			Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	569					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						CAGACATTCTGAGAGAACCGT	0.652000													10	74					0	0	1	0	0
DHRS7B	25979	broad.mit.edu	37	17	21087050	21087050	+	Silent	SNP	C	C	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr17:21087050C>A	ENST00000395511.3	+	4	773	c.453C>A	c.(451-453)atC>atA	p.I151I	DHRS7B_ENST00000579303.1_Silent_p.I136I	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B	151						integral to membrane|peroxisomal membrane	binding|oxidoreductase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						GTGGTACCATCATGGACACCA	0.498000													12	31					4.93089e-13	5.49802e-13	1	1	0
NDUFAF7	55471	broad.mit.edu	37	2	37475355	37475355	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr2:37475355G>T	ENST00000002125.4	+	10	1228	c.1188G>T	c.(1186-1188)aaG>aaT	p.K396N	NDUFAF7_ENST00000336237.6_Missense_Mutation_p.K298N	NM_144736.4	NP_653337.1			NADH dehydrogenase (ubiquinone) complex I, assembly factor 7																		TGAATCCAAAGAAGATGGGAG	0.373000													8	56					0.000157383	0.000165942	1	1	0
ARHGEF10	9639	broad.mit.edu	37	8	1876609	1876609	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr8:1876609A>G	ENST00000518288.1	+	25	2949	c.2786A>G	c.(2785-2787)cAt>cGt	p.H929R	ARHGEF10_ENST00000398564.1_Missense_Mutation_p.H930R|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.H901R|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.H905R|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.H867R			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	930					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		AGTTGCACCCATCAAATGGGT	0.473000													11	108					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578534	7578534	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr17:7578534C>G	ENST00000420246.2	-	5	528	c.396G>C	c.(394-396)aaG>aaC	p.K132N	TP53_ENST00000445888.2_Missense_Mutation_p.K132N|TP53_ENST00000269305.4_Missense_Mutation_p.K132N|TP53_ENST00000359597.4_Missense_Mutation_p.K132N|TP53_ENST00000413465.2_Missense_Mutation_p.K132N|TP53_ENST00000455263.2_Missense_Mutation_p.K132N	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	132	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.K132N(49)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.K39N(2)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132K(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.M133fs*37(1)|p.M133fs*16(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)		GGCAAAACATCTTGTTGAGGG	0.562000		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)			18	15					0	0	1	0	0
DNM2	1785	broad.mit.edu	37	19	10897324	10897324	+	Nonsense_Mutation	SNP	G	G	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr19:10897324G>T	ENST00000314646.5	+	7	1098	c.934G>T	c.(934-936)Gag>Tag	p.E312*	DNM2_ENST00000585892.1_Nonsense_Mutation_p.E312*|DNM2_ENST00000408974.4_Nonsense_Mutation_p.E312*|DNM2_ENST00000355667.6_Nonsense_Mutation_p.E312*|DNM2_ENST00000359692.6_Nonsense_Mutation_p.E312*|DNM2_ENST00000389253.4_Nonsense_Mutation_p.E312*			P50570	DYN2_HUMAN	dynamin 2	312					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GAAGGAGGTGGAGGAGTACAA	0.622000			"""F, N, Splice, Mis, O"""		ETP ALL								4	36					1	1	1	1	0
ECM2	1842	broad.mit.edu	37	9	95280065	95280065	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr9:95280065C>T	ENST00000344604.5	-	3	534	c.385G>A	c.(385-387)Gga>Aga	p.G129R	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000375540.1_Missense_Mutation_p.G129R|ECM2_ENST00000444490.2_Missense_Mutation_p.G129R	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	129	VWFC.				cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						AGAACTCTTCCATCTGAGCAG	0.522000													32	42					0	0	1	0	0
CCDC11	220136	broad.mit.edu	37	18	47788473	47788473	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr18:47788473C>G	ENST00000398545.4	-	2	303	c.186G>C	c.(184-186)ttG>ttC	p.L62F		NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	62										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		ACTCAGCTTTCAAGCGATCCC	0.468000													19	103					0	0	1	0	0
THADA	63892	broad.mit.edu	37	2	43519987	43519987	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr2:43519987C>G	ENST00000405006.4	-	32	5155	c.4804G>C	c.(4804-4806)Gaa>Caa	p.E1602Q	THADA_ENST00000405975.2_Missense_Mutation_p.E1602Q|THADA_ENST00000415080.2_Missense_Mutation_p.E1283Q|THADA_ENST00000330266.7_Intron	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1602							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CAGAAGCATTCTGGGTGATTT	0.498000													18	42					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21840794	21840794	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr7:21840794G>C	ENST00000328843.6	+	63	10118	c.10087G>C	c.(10087-10089)Gaa>Caa	p.E3363Q	DNAH11_ENST00000409508.3_Missense_Mutation_p.E3356Q			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3363	Stalk (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGCTTCATTTGAAAAAGCAAC	0.393000									Kartagener syndrome				6	21					0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32217507	32217507	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr22:32217507C>G	ENST00000400246.1	+	23	2032	c.1890C>G	c.(1888-1890)atC>atG	p.I630M	DEPDC5_ENST00000400248.2_Missense_Mutation_p.I630M|DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000400249.2_Missense_Mutation_p.I630M|DEPDC5_ENST00000382112.3_Missense_Mutation_p.I630M|DEPDC5_ENST00000382111.2_Missense_Mutation_p.I630M|DEPDC5_ENST00000536766.1_Intron|DEPDC5_ENST00000266091.3_Missense_Mutation_p.I630M|DEPDC5_ENST00000535622.1_Intron			O75140	DEPD5_HUMAN	DEP domain containing 5	630					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GAGAAGCCATCCAGATCCACC	0.532000													6	93					0	0	1	0	0
ARNTL	406	broad.mit.edu	37	11	13393822	13393822	+	Silent	SNP	C	C	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr11:13393822C>A	ENST00000389708.3	+	13	1288	c.933C>A	c.(931-933)ctC>ctA	p.L311L	ARNTL_ENST00000396441.3_Silent_p.L310L|ARNTL_ENST00000497429.1_3'UTR|ARNTL_ENST00000389707.4_Silent_p.L310L|ARNTL_ENST00000403290.1_Silent_p.L311L|ARNTL_ENST00000403510.3_Silent_p.L267L|ARNTL_ENST00000361003.4_Intron|ARNTL_ENST00000401424.1_Silent_p.L268L|ARNTL_ENST00000403482.3_Silent_p.L309L			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	311					circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		GGTGTAACCTCAGCTGCCTCG	0.502000													12	36					6.40141e-05	6.81126e-05	1	1	0
CPSF6	11052	broad.mit.edu	37	12	69652546	69652546	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr12:69652546C>A	ENST00000435070.2	+	6	981	c.871C>A	c.(871-873)Cca>Aca	p.P291T	CPSF6_ENST00000456847.3_Missense_Mutation_p.P218T|CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000266679.8_Missense_Mutation_p.P328T	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	291	Pro-rich.				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			TCCATTGGGTCCACTTCCTCC	0.627000													11	72					3.07112e-06	3.29791e-06	1	1	0
FCRL3	115352	broad.mit.edu	37	1	157665139	157665139	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr1:157665139C>G	ENST00000368184.3	-	8	1682	c.1391G>C	c.(1390-1392)gGa>gCa	p.G464A	FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Missense_Mutation_p.G464A	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	464	Ig-like C2-type 5.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GAGACTCACTCCATGACTGTG	0.498000													4	152					0	0	1	0	0
USP8	9101	broad.mit.edu	37	15	50763921	50763921	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr15:50763921G>C	ENST00000433963.1	+	9	1278	c.778G>C	c.(778-780)Gac>Cac	p.D260H	USP8_ENST00000425032.3_Missense_Mutation_p.D183H|USP8_ENST00000307179.4_Missense_Mutation_p.D260H|USP8_ENST00000396444.3_Missense_Mutation_p.D260H			P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	260	Rhodanese.				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		GGTACTTCTTGACTGGTTTAG	0.408000													13	104					0	0	1	0	0
GEMIN2	8487	broad.mit.edu	37	14	39583668	39583668	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr14:39583668G>A	ENST00000308317.6	+	1	242	c.159G>A	c.(157-159)ctG>ctA	p.L53L	GEMIN2_ENST00000250379.8_Silent_p.L53L|GEMIN2_ENST00000396249.2_Silent_p.L53L	NM_003616.2	NP_003607.1	O14893	GEMI2_HUMAN	gem (nuclear organelle) associated protein 2	53					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	Cajal body|cytosol|spliceosomal complex	protein binding										AGGAATACCTGAGGCGGGTCC	0.617000													3	14					0	0	1	0	0
LTB	4050	broad.mit.edu	37	6	31549630	31549630	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr6:31549630C>G	ENST00000429299.2	-	2	176	c.169G>C	c.(169-171)Gag>Cag	p.E57Q	LTB_ENST00000483972.1_Intron|LTB_ENST00000446745.2_Intron	NM_002341.1	NP_002332.1	Q06643	TNFC_HUMAN	lymphotoxin beta (TNF superfamily, member 3)	57					cell-cell signaling|immune response|positive regulation of interleukin-12 biosynthetic process|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9					Infliximab(DB00065)|Simvastatin(DB00641)	TCGGCCGTCTCCGTTACCTGG	0.627000													4	78					0	0	1	0	0
NACC1	112939	broad.mit.edu	37	19	13249004	13249004	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr19:13249004G>A	ENST00000292431.4	+	6	1494	c.1368G>A	c.(1366-1368)atG>atA	p.M456I		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	456	BEN.				negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						AGAGCGAGATGAATGCCATCG	0.642000													15	112					0	0	1	0	0
GTF2F1	2962	broad.mit.edu	37	19	6381446	6381446	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr19:6381446C>G	ENST00000394456.5	-	9	1406	c.942G>C	c.(940-942)gaG>gaC	p.E314D	GTF2F1_ENST00000429701.2_Missense_Mutation_p.E229D	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	314	Glu-rich.				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						cAGGCGGCTTCTCCTCCTCAC	0.637000													5	24					0	0	1	0	0
HIST1H2BF	8343	broad.mit.edu	37	6	26200008	26200008	+	Silent	SNP	C	C	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr6:26200008C>A	ENST00000359985.1	+	1	261	c.222C>A	c.(220-222)atC>atA	p.I74I		NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	74					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				TCGAGCGCATCGCTGGCGAGG	0.612000													14	146					2.23348e-06	2.42831e-06	1	1	0
MAGEB6	158809	broad.mit.edu	37	X	26212104	26212104	+	Silent	SNP	T	T	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chrX:26212104T>A	ENST00000379034.1	+	2	290	c.141T>A	c.(139-141)gcT>gcA	p.A47A		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	47	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CTTCTCGCGCTTGTCTGGGTG	0.547000													18	29					0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109707431	109707431	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr13:109707431G>T	ENST00000356711.2	+	26	3146	c.3020G>T	c.(3019-3021)aGa>aTa	p.R1007I	MYO16_ENST00000457511.2_Missense_Mutation_p.R519I|MYO16_ENST00000357550.2_Missense_Mutation_p.R1007I	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1007	Myosin head-like 2.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TTTCTTCAAAGATTGGAACGA	0.343000													12	45					7.03913e-09	7.67705e-09	1	1	0
FMN2	56776	broad.mit.edu	37	1	240370516	240370516	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr1:240370516C>T	ENST00000319653.9	+	5	2634	c.2404C>T	c.(2404-2406)Cag>Tag	p.Q802*		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	802	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CGACAGCCATCAGCCCACACA	0.547000													6	56					0	0	1	0	0
RNF220	55182	broad.mit.edu	37	1	45115364	45115364	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr1:45115364G>C	ENST00000355387.2	+	13	1927	c.1477G>C	c.(1477-1479)Gag>Cag	p.E493Q	RNF220_ENST00000372247.2_Missense_Mutation_p.E493Q|RNF220_ENST00000443020.2_Missense_Mutation_p.E280Q|TMEM53_ENST00000372243.3_Intron|RNF220_ENST00000361799.2_Missense_Mutation_p.E493Q|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000372242.3_Intron|RNF220_ENST00000480686.1_3'UTR			Q5VTB9	RN220_HUMAN	ring finger protein 220	493					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						GACCACGTTTGAGGCTCTGAA	0.527000													6	84					0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37297374	37297374	+	Splice_Site	SNP	T	T	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr2:37297374T>C	ENST00000233099.5	-	7	1021	c.926A>G	c.(925-927)cAg>cGg	p.Q309R	HEATR5B_ENST00000354531.2_Splice_Site_p.Q309R	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	309							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GTTACAAACCTGCGTAACTCC	0.498000													33	69					0	0	1	0	0
TFAP2A	7020	broad.mit.edu	37	6	10398904	10398904	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr6:10398904G>C	ENST00000379613.3	-	7	1322	c.1066C>G	c.(1066-1068)Cag>Gag	p.Q356E	TFAP2A_ENST00000379608.3_Missense_Mutation_p.Q348E|TFAP2A_ENST00000379604.2_Missense_Mutation_p.Q354E|TFAP2A_ENST00000482890.1_Missense_Mutation_p.Q354E|TFAP2A_ENST00000319516.4_Missense_Mutation_p.Q350E			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	354	H-S-H (helix-span-helix), dimerization.				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				GATCGGTCCTGAGCCAGCAGG	0.582000													16	88					0	0	1	0	0
CARS	833	broad.mit.edu	37	11	3068994	3068994	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr11:3068994C>T	ENST00000380525.4	-	2	332	c.263G>A	c.(262-264)aGg>aAg	p.R88K	CARS_ENST00000397111.5_Intron|CARS_ENST00000278224.9_Intron|CARS_ENST00000397114.3_5'UTR|CARS_ENST00000401769.3_Intron	NM_001014437.2|NM_001194997.1	NP_001014437.1|NP_001181926.1	P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	0					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	TGCTTGGAGCCTGCAGGGCTG	0.617000			T	ALK	ALCL								7	35					0	0	1	0	0
KIAA2026	158358	broad.mit.edu	37	9	5968773	5968773	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr9:5968773C>A	ENST00000399933.3	-	3	1457	c.1458G>T	c.(1456-1458)caG>caT	p.Q486H	KIAA2026_ENST00000381461.2_Missense_Mutation_p.Q486H	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	486										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		GAAAGGGTCTCTGTTTATAAA	0.373000													23	43					3.5997e-14	4.02659e-14	1	1	0
CYP4Z2P	163720	broad.mit.edu	37	1	47325250	47325250	+	RNA	SNP	A	A	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr1:47325250A>G	ENST00000505841.1	-	0	1204					NR_002788.2																						AATAACTGTTAAAGACATGAG	0.403000													9	14					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22176549	22176549	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr1:22176549G>A	ENST00000374695.3	-	57	7510	c.7431C>T	c.(7429-7431)ctC>ctT	p.L2477L	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2477	Ig-like C2-type 10.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GCCGGGCCGGGAGGCTGCCCC	0.667000													15	121					0	0	1	0	0
TICRR	90381	broad.mit.edu	37	15	90146110	90146110	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr15:90146110G>C	ENST00000268138.7	+	13	2756	c.2651G>C	c.(2650-2652)aGa>aCa	p.R884T	TICRR_ENST00000560985.1_Missense_Mutation_p.R883T					TOPBP1-interacting checkpoint and replication regulator																		GTGTCAAAGAGAGCTACGAAA	0.328000													3	31					0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11735423	11735423	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr2:11735423G>A	ENST00000381486.2	+	12	2043	c.1743G>A	c.(1741-1743)gcG>gcA	p.A581A	GREB1_ENST00000234142.5_Silent_p.A581A	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	581						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TCACTCCTGCGGAGTACCAGA	0.522000													6	30					0	0	1	0	0
UAP1	6675	broad.mit.edu	37	1	162557388	162557388	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr1:162557388C>G	ENST00000271469.3	+	6	1260	c.958C>G	c.(958-960)Cga>Gga	p.R320G	UAP1_ENST00000367925.1_Missense_Mutation_p.R320G|UAP1_ENST00000367924.1_Missense_Mutation_p.R320G|UAP1_ENST00000367926.4_Missense_Mutation_p.R320G			Q16222	UAP1_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1	320					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			CTCAGACGGACGACTGCTGTT	0.463000													20	231					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189604307	189604307	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr3:189604307C>G	ENST00000264731.3	+	11	1563	c.1474C>G	c.(1474-1476)Cct>Gct	p.P492A	TP63_ENST00000440651.2_Missense_Mutation_p.P488A|TP63_ENST00000320472.5_Missense_Mutation_p.P492A|TP63_ENST00000382063.4_Missense_Mutation_p.P407A|TP63_ENST00000392460.3_Missense_Mutation_p.P492A|TP63_ENST00000449992.1_Missense_Mutation_p.P313A|TP63_ENST00000392463.2_Missense_Mutation_p.P398A|TP63_ENST00000354600.5_Missense_Mutation_p.P398A|TP63_ENST00000456148.1_Missense_Mutation_p.P394A|TP63_ENST00000392461.3_Missense_Mutation_p.P398A	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	492					anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CGCCCTCACTCCTACAACCAT	0.498000										HNSCC(45;0.13)			6	64					0	0	1	0	0
MDP1	145553	broad.mit.edu	37	14	24683276	24683276	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr14:24683276G>C	ENST00000288087.7	-	6	596	c.485C>G	c.(484-486)aCt>aGt	p.T162S	AL136419.6_ENST00000565988.1_RNA|MDP1_ENST00000396833.2_Missense_Mutation_p.N115K|MDP1_ENST00000532557.1_5'UTR	NM_001199822.1|NM_138476.3	NP_001186751.1|NP_612485.2			magnesium-dependent phosphatase 1											breast(2)|large_intestine(2)|lung(3)	7						CAAAGGCCCAGTTTGGGCCTT	0.413000													20	43					0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153884187	153884187	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr4:153884187G>A	ENST00000511601.1	+	8	1122	c.934G>A	c.(934-936)Ggc>Agc	p.G312S	FHDC1_ENST00000260008.3_Missense_Mutation_p.G312S			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	312	FH2.				actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					AGGGTATGCCGGCAATGCAGT	0.408000													13	99					0	0	1	0	0
GALNT15	117248	broad.mit.edu	37	3	16217054	16217054	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr3:16217054G>C	ENST00000339732.5	+	1	899	c.396G>C	c.(394-396)aaG>aaC	p.K132N	GALNT15_ENST00000470031.1_3'UTR|GALNT15_ENST00000437509.1_Missense_Mutation_p.K132N	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		AAGCCCCAAAGAGGGACTGGG	0.632000													8	29					0	0	1	0	0
SYK	6850	broad.mit.edu	37	9	93629428	93629428	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr9:93629428G>A	ENST00000375754.4	+	7	1010	c.862G>A	c.(862-864)Gga>Aga	p.G288R	SYK_ENST00000375747.1_Intron|SYK_ENST00000375746.1_Missense_Mutation_p.G288R|SYK_ENST00000375751.4_Intron	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	288	Linker.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						GTCAGCGGGTGGAATAATCTC	0.443000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								8	81					0	0	1	0	0
OR1L4	254973	broad.mit.edu	37	9	125486352	125486352	+	Silent	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr9:125486352C>G	ENST00000259466.1	+	1	84	c.84C>G	c.(82-84)ctC>ctG	p.L28L		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						AGAAACCTCTCTTTGCCATCT	0.527000													5	102					0	0	1	0	0
TRAJ1	28754	broad.mit.edu	37	14	23014019	23014019	+	RNA	SNP	G	G	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr14:23014019G>T	ENST00000390536.2	+	0	39																											TTTGGCAAAGGAACCAGAGTT	0.498000													6	39					0.00307968	0.00319883	1	1	0
ADCY7	113	broad.mit.edu	37	16	50324426	50324426	+	Missense_Mutation	SNP	C	C	T	rs146074597		TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr16:50324426C>T	ENST00000394697.2	+	3	570	c.230C>T	c.(229-231)gCg>gTg	p.A77V	ADCY7_ENST00000254235.3_Missense_Mutation_p.A77V|ADCY7_ENST00000566433.2_Missense_Mutation_p.A77V|ADCY7_ENST00000538642.1_Missense_Mutation_p.A77V|ADCY7_ENST00000564044.1_Intron|ADCY7_ENST00000537579.1_Missense_Mutation_p.A77V			P51828	ADCY7_HUMAN	adenylate cyclase 7	77					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	GCGGTGTTTGCGGCCCTCTCT	0.647000													3	53					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31986490	31986490	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chrX:31986490C>G	ENST00000357033.4	-	45	6786	c.6580G>C	c.(6580-6582)Gag>Cag	p.E2194Q	DMD_ENST00000343523.2_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.E2190Q	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2194					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTGCAGACCTCCTGCCACCGC	0.398000													13	58					0	0	1	0	0
UTP18	51096	broad.mit.edu	37	17	49340655	49340655	+	Silent	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr17:49340655G>C	ENST00000225298.7	+	2	420	c.363G>C	c.(361-363)tcG>tcC	p.S121S		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	121					rRNA processing	nucleolus		p.S121S(1)		breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			ATGAAGACTCGGGTGACTCAG	0.438000													3	57					0	0	1	0	0
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	RNA	SNP	G	G	A	rs138111133	by1000genomes	TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1																						ACCAAGCCCAGTGGACAGATG	0.443000													3	54					0	0	1	0	0
MTMR8	55613	broad.mit.edu	37	X	63488418	63488418	+	Silent	SNP	C	C	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chrX:63488418C>T	ENST00000374852.3	-	14	2181	c.2114G>A	c.(2113-2115)tGa>tAa	p.*705*	MTMR8_ENST00000453546.1_Intron	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	0						nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						GTAACTAACTCACTGATGCTT	0.502000													8	22					0	0	1	0	0
LRFN3	79414	broad.mit.edu	37	19	36431357	36431357	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr19:36431357C>T	ENST00000588831.1	+	3	2084	c.1030C>T	c.(1030-1032)Cgc>Tgc	p.R344C	LRFN3_ENST00000246529.3_Missense_Mutation_p.R344C			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	344	Ig-like.				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AAGCCGTGCCCGCGCCTTCCC	0.701000													3	16					0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52544886	52544886	+	Splice_Site	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr13:52544886C>G	ENST00000242839.4	-	3	1442		c.e3-1		ATP7B_ENST00000448424.2_Splice_Site|ATP7B_ENST00000418097.2_Splice_Site|ATP7B_ENST00000400366.3_Splice_Site|ATP7B_ENST00000482841.1_Splice_Site|ATP7B_ENST00000344297.5_Splice_Site|ATP7B_ENST00000542656.1_Splice_Site|ATP7B_ENST00000400370.3_Intron	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide						ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		GAACAGCTTTCTAGGATAAAA	0.433000									Wilson disease				3	37					0	0	1	0	0
GRIN2C	2905	broad.mit.edu	37	17	72848264	72848264	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr17:72848264G>C	ENST00000293190.5	-	3	1032	c.886C>G	c.(886-888)Ctg>Gtg	p.L296V	GRIN2C_ENST00000347612.4_Missense_Mutation_p.L296V|GRIN2C_ENST00000578159.1_5'UTR	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	296					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	CCCAGGGCCAGAATGGCCACG	0.736000													2	1					0	0	1	0	0
GRIA4	2893	broad.mit.edu	37	11	105483128	105483128	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr11:105483128G>C	ENST00000393127.2	+	3	660	c.214G>C	c.(214-216)Gag>Cag	p.E72Q	GRIA4_ENST00000527669.1_Missense_Mutation_p.E72Q|GRIA4_ENST00000393125.2_Missense_Mutation_p.E72Q|GRIA4_ENST00000530497.1_Missense_Mutation_p.E72Q|GRIA4_ENST00000282499.5_Missense_Mutation_p.E72Q|GRIA4_ENST00000428631.2_Missense_Mutation_p.E72Q|GRIA4_ENST00000525187.1_Missense_Mutation_p.E72Q	NM_001077243.2	NP_001070711	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	72					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	GGACAACATTGAGACAGCCAA	0.403000													10	78					0	0	1	0	0
ATP6V0C	527	broad.mit.edu	37	16	2569386	2569386	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr16:2569386G>A	ENST00000330398.4	+	2	481	c.247G>A	c.(247-249)Gac>Aac	p.D83N	ATP6V0C_ENST00000568562.1_3'UTR|ATP6V0C_ENST00000565223.1_Missense_Mutation_p.D40N|ATP6C_ENST00000569317.1_Intron|RP11-20I23.1_ENST00000564543.1_3'UTR|ATP6V0C_ENST00000564973.1_Missense_Mutation_p.D40N	NM_001198569.1|NM_001694.3	NP_001185498.1|NP_001685.1	P27449	VATL_HUMAN	ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c	83					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|interspecies interaction between organisms|transferrin transport	endosome membrane|integral to membrane|proton-transporting ATP synthase complex, coupling factor F(o)|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism|ubiquitin protein ligase binding			endometrium(1)|lung(1)|ovary(1)	3		Ovarian(90;0.17)				CCTGAATGACGACATCAGCCT	0.627000													4	34					0	0	1	0	0
SLC19A2	10560	broad.mit.edu	37	1	169437968	169437968	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr1:169437968G>C	ENST00000236137.5	-	4	1373	c.1137C>G	c.(1135-1137)atC>atG	p.I379M	SLC19A2_ENST00000367804.4_Missense_Mutation_p.I178M	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	379					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)					CAGTGTCCATGATATACACTG	0.398000													5	105					0	0	1	0	0
KMT2E	55904	broad.mit.edu	37	7	104747945	104747945	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr7:104747945C>G	ENST00000334877.4	+	22	3575	c.3041C>G	c.(3040-3042)cCt>cGt	p.P1014R	KMT2E_ENST00000311117.3_Missense_Mutation_p.P1014R|KMT2E_ENST00000334914.7_Missense_Mutation_p.P69R|KMT2E_ENST00000257745.4_Missense_Mutation_p.P1014R					lysine (K)-specific methyltransferase 2E																		AGGCAGTGTCCTGGAGAAAAG	0.463000													7	56					0	0	1	0	0
NFAT5	10725	broad.mit.edu	37	16	69727851	69727851	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr16:69727851C>G	ENST00000349945.1	+	14	5393	c.3841C>G	c.(3841-3843)Cag>Gag	p.Q1281E	NFAT5_ENST00000566899.1_Missense_Mutation_p.Q1281E|NFAT5_ENST00000567239.1_Missense_Mutation_p.Q1374E|NFAT5_ENST00000393742.2_Missense_Mutation_p.Q1281E|NFAT5_ENST00000354436.2_Missense_Mutation_p.Q1357E|NFAT5_ENST00000432919.1_Missense_Mutation_p.Q1375E	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1357					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TAGCTCTCCTCAGATTCAGTT	0.483000													15	71					0	0	1	0	0
PVRL1	5818	broad.mit.edu	37	11	119547833	119547833	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr11:119547833G>A	ENST00000264025.3	-	4	1360	c.830C>T	c.(829-831)gCc>gTc	p.A277V	PVRL1_ENST00000340882.2_Missense_Mutation_p.A277V|PVRL1_ENST00000524510.1_5'UTR|PVRL1_ENST00000341398.2_Missense_Mutation_p.A277V	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	277	Ig-like C2-type 2.				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GTACTCAGTGGCTGGGGGGTT	0.567000													3	33					0	0	1	0	0
H2AFV	94239	broad.mit.edu	37	7	44874100	44874100	+	Nonstop_Mutation	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr7:44874100C>G	ENST00000308153.4	-	5	478	c.387G>C	c.(385-387)taG>taC	p.*129Y	H2AFV_ENST00000222690.6_Intron|H2AFV_ENST00000381124.5_3'UTR|H2AFV_ENST00000349299.3_Nonstop_Mutation_p.*91Y|H2AFV_ENST00000521529.1_3'UTR|H2AFV_ENST00000437072.1_Intron|H2AFV_ENST00000350771.3_Nonstop_Mutation_p.*103Y	NM_012412.4	NP_036544.1	Q71UI9	H2AV_HUMAN	H2A histone family, member V	0					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	9						AAGCATCCCTCTAAGCAGTTT	0.368000													11	48					0	0	1	0	0
IGKV3-15	28913	broad.mit.edu	37	2	89384828	89384828	+	RNA	SNP	G	G	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr2:89384828G>T	ENST00000390252.2	-	0	286																											AGGAGCCTGGGAGCCTGGCCA	0.592000													4	42					0.184627	0.186228	1	1	0
ZNRF3	84133	broad.mit.edu	37	22	29442814	29442814	+	Silent	SNP	C	C	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr22:29442814C>T	ENST00000544604.2	+	6	1030	c.855C>T	c.(853-855)ctC>ctT	p.L285L	ZNRF3_ENST00000406323.3_Silent_p.L185L|ZNRF3_ENST00000332811.4_Silent_p.L185L|ZNRF3_ENST00000402174.1_Silent_p.L185L	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	285						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						TGGACACACTCAGCAGCAGCT	0.582000													8	104					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28896411	28896411	+	Silent	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr13:28896411C>G	ENST00000282397.4	-	22	3290	c.3039G>C	c.(3037-3039)ctG>ctC	p.L1013L	FLT1_ENST00000543394.1_Silent_p.L36L|FLT1_ENST00000540678.1_Silent_p.L231L	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1013	Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TTCTGGAAGACAGGAACTCCA	0.423000													14	43					0	0	1	0	0
GSTA5	221357	broad.mit.edu	37	6	52696661	52696661	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr6:52696661C>G	ENST00000370989.2	-	6	683	c.654G>C	c.(652-654)aaG>aaC	p.K218N	GSTA5_ENST00000284562.2_Missense_Mutation_p.K218N|GSTA5_ENST00000475052.1_5'UTR			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5						glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	ACCTGAAAATCTTCCTTGCTT	0.438000													19	95					0	0	1	0	0
TRIM24	8805	broad.mit.edu	37	7	138264033	138264033	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr7:138264033G>A	ENST00000343526.4	+	15	2556	c.2341G>A	c.(2341-2343)Gat>Aat	p.D781N	TRIM24_ENST00000415680.2_Missense_Mutation_p.D747N			O15164	TIF1A_HUMAN	tripartite motif containing 24	781					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						GCTAAGATCAGATGCCCCTGA	0.448000													18	106					0	0	1	0	0
GOLGA8EP	390535	broad.mit.edu	37	15	23444013	23444013	+	RNA	SNP	G	G	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr15:23444013G>A	ENST00000526079.1	+	0	1657					NR_027407.1|NR_033350.1																						ACAGGACACGGAGGAGAACAT	0.617000													4	76					0	0	1	0	0
POLG	5428	broad.mit.edu	37	15	89876445	89876445	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr15:89876445C>T	ENST00000268124.5	-	2	874	c.541G>A	c.(541-543)Gag>Aag	p.E181K	POLG_ENST00000442287.2_Missense_Mutation_p.E181K|POLG_ENST00000525806.1_5'UTR	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	181					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			GCCTCCCCCTCGGGGCCGTAC	0.721000								DNA polymerases (catalytic subunits)					3	9					0	0	1	0	0
USP54	159195	broad.mit.edu	37	10	75335374	75335374	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr10:75335374C>T	ENST00000339859.4	-	2	143	c.43G>A	c.(43-45)Gta>Ata	p.V15I	USP54_ENST00000394811.2_5'UTR|USP54_ENST00000408019.1_Missense_Mutation_p.V15I|USP54_ENST00000428547.1_Missense_Mutation_p.V15I|USP54_ENST00000319786.7_Missense_Mutation_p.V15I			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	15					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					ATCCCTTGTACACTACCACGA	0.468000													10	95					0	0	1	0	0
GNA11	2767	broad.mit.edu	37	19	3121016	3121016	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr19:3121016G>A	ENST00000078429.4	+	7	1161	c.919G>A	c.(919-921)Gag>Aag	p.E307K	GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	307					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GGCGGCGCGGGAGTTCATCCT	0.652000			Mis		uveal melanoma								13	33					0	0	1	0	0
FAM208B	54906	broad.mit.edu	37	10	5784247	5784247	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr10:5784247G>C	ENST00000328090.5	+	14	3140	c.2515G>C	c.(2515-2517)Gag>Cag	p.E839Q	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	839																	CCGTGAAATTGAGGAGTCCCT	0.428000													9	105					0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56953062	56953062	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr19:56953062C>G	ENST00000504904.3	-	7	2021	c.1302G>C	c.(1300-1302)caG>caC	p.Q434H	ZNF667_ENST00000292069.6_Missense_Mutation_p.Q434H|ZNF667_ENST00000342634.3_Missense_Mutation_p.Q562H|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	434					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		AATGAATATTCTGATGTATTT	0.318000													16	86					0	0	1	0	0
SLC44A3	126969	broad.mit.edu	37	1	95332918	95332918	+	Missense_Mutation	SNP	G	G	A	rs142020864	byFrequency	TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr1:95332918G>A	ENST00000271227.6	+	12	1529	c.1427G>A	c.(1426-1428)cGa>cAa	p.R476Q	SLC44A3_ENST00000530397.1_3'UTR|SLC44A3_ENST00000529450.1_Missense_Mutation_p.R443Q|SLC44A3_ENST00000527077.1_Missense_Mutation_p.R408Q|SLC44A3_ENST00000467909.1_Missense_Mutation_p.R428Q|SLC44A3_ENST00000446120.2_Missense_Mutation_p.R440Q|SLC44A3_ENST00000532427.1_Missense_Mutation_p.R396Q	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	476						integral to membrane|plasma membrane	choline transmembrane transporter activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	TACCTGTTCCGATGCTGCTAC	0.478000													5	64					0	0	1	0	0
PTTG1IP	754	broad.mit.edu	37	21	46275171	46275171	+	Splice_Site	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr21:46275171C>G	ENST00000330938.3	-	5	670	c.450G>C	c.(448-450)cgG>cgC	p.R150R	PTTG1IP_ENST00000494690.1_5'UTR|PTTG1IP_ENST00000397887.3_Intron|PTTG1IP_ENST00000445724.2_Intron|PTTG1IP_ENST00000397886.3_Splice_Site_p.R129R	NM_004339.3	NP_004330.1	P53801	PTTG_HUMAN	pituitary tumor-transforming 1 interacting protein	150					protein import into nucleus	cytoplasm|integral to membrane|nucleus				ovary(1)|prostate(1)	2				Colorectal(79;0.0659)		TCTCTGCTCTCCTAAAACACA	0.512000													15	50					0	0	1	0	0
NSF	4905	broad.mit.edu	37	17	44782205	44782205	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr17:44782205G>C	ENST00000398238.4	+	13	1562	c.1455G>C	c.(1453-1455)gaG>gaC	p.E485D	NSF_ENST00000225282.8_Missense_Mutation_p.E391D|NSF_ENST00000575068.1_Missense_Mutation_p.E480D	NM_006178.3	NP_006169.2	P46459	NSF_HUMAN	N-ethylmaleimide-sensitive factor	485					protein transport|synaptic transmission	cytosol	ATP binding|metal ion binding			kidney(2)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		CTTCTTTGGAGAATGATATCA	0.393000													5	27					0	0	1	0	0
WDTC1	23038	broad.mit.edu	37	1	27622834	27622834	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr1:27622834G>C	ENST00000319394.3	+	10	1426	c.891G>C	c.(889-891)ttG>ttC	p.L297F	WDTC1_ENST00000361771.3_Missense_Mutation_p.L297F	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	297							protein binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		TGTTTGACTTGACTTACAAGC	0.502000													15	152					0	0	1	0	0
EXO5	64789	broad.mit.edu	37	1	40980428	40980428	+	Nonsense_Mutation	SNP	C	C	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr1:40980428C>A	ENST00000372703.1	+	2	1286	c.212C>A	c.(211-213)tCa>tAa	p.S71*	EXO5_ENST00000296380.4_Nonsense_Mutation_p.S71*|EXO5_ENST00000358527.2_Nonsense_Mutation_p.S71*|RP11-656D10.5_ENST00000453437.1_RNA					exonuclease 5																		GATATATTATCACCCATGGAG	0.428000													9	248					5.4927e-09	6.00926e-09	1	1	0
PLEKHH1	57475	broad.mit.edu	37	14	68040040	68040040	+	Silent	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr14:68040040G>C	ENST00000329153.5	+	12	1908	c.1776G>C	c.(1774-1776)gtG>gtC	p.V592V		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	592	PH 1.					cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		GGAGCCAGGTGAAGACGTGGA	0.552000													5	28					0	0	1	0	0
RMDN1	51115	broad.mit.edu	37	8	87520834	87520834	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr8:87520834G>C	ENST00000406452.3	-	1	175	c.16C>G	c.(16-18)Cga>Gga	p.R6G	RMDN1_ENST00000519966.1_Missense_Mutation_p.R6G|RMDN1_ENST00000523911.1_Intron|CPNE3_ENST00000198765.4_Intron|RMDN1_ENST00000518772.1_5'UTR|RMDN1_ENST00000430676.2_Missense_Mutation_p.R6G	NM_016033.2	NP_057117.2			regulator of microtubule dynamics 1																		CGCCACAGTCGAGCAGCCAGC	0.662000													4	10					0	0	1	0	0
DDX17	10521	broad.mit.edu	37	22	38890665	38890665	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr22:38890665T>C	ENST00000396821.3	-	8	1283	c.1184A>G	c.(1183-1185)gAt>gGt	p.D395G	DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Missense_Mutation_p.D316G	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	316	Helicase C-terminal.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					CATGCAGACATCCACTATCTG	0.393000													4	54					0	0	1	0	0
SLC17A5	26503	broad.mit.edu	37	6	74354233	74354233	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr6:74354233G>A	ENST00000355773.5	-	2	456	c.188C>T	c.(187-189)gCg>gTg	p.A63V	SLC17A5_ENST00000393019.3_Missense_Mutation_p.A63V	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	63					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATCCACTAACGCAACACTCAG	0.388000													5	42					0	0	1	0	0
NLRC4	58484	broad.mit.edu	37	2	32476650	32476650	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr2:32476650C>G	ENST00000404025.2	-	5	771	c.283G>C	c.(283-285)Gaa>Caa	p.E95Q	NLRC4_ENST00000360906.5_Missense_Mutation_p.E95Q|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Missense_Mutation_p.E95Q			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	95					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AAGTCTCCTTCTGATGTCTGA	0.408000													4	58					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13365962	13365962	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr19:13365962C>G	ENST00000360228.5	-	29	4701	c.4702G>C	c.(4702-4704)Gag>Cag	p.E1568Q	CACNA1A_ENST00000573710.2_Missense_Mutation_p.E1569Q	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1569					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	ATCGTGTACTCGAAAGGCGGA	0.572000													4	29					0	0	1	0	0
OAS3	4940	broad.mit.edu	37	12	113400499	113400499	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr12:113400499C>G	ENST00000228928.7	+	9	2055	c.1876C>G	c.(1876-1878)Ctg>Gtg	p.L626V	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	626	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CCCTGCCTCTCTGCCCCCAGC	0.577000													11	61					0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70332553	70332553	+	Nonsense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr10:70332553C>G	ENST00000373644.4	+	2	667	c.458C>G	c.(457-459)tCa>tGa	p.S153*		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	153					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GTAAAGCACTCAGAAAATGAT	0.398000													8	54					0	0	1	0	0
DIAPH2	1730	broad.mit.edu	37	X	96220143	96220143	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chrX:96220143G>A	ENST00000324765.8	+	17	2334	c.1987G>A	c.(1987-1989)Gac>Aac	p.D663N	DIAPH2_ENST00000373054.4_Missense_Mutation_p.D659N|DIAPH2_ENST00000373061.3_Missense_Mutation_p.D663N|DIAPH2_ENST00000373049.4_Missense_Mutation_p.D663N|DIAPH2_ENST00000355827.4_Missense_Mutation_p.D663N			O60879	DIAP2_HUMAN	diaphanous-related formin 2	663	FH2.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						AGTCAAAGAAGACAAGTTTGA	0.294000													9	13					0	0	1	0	0
LEPREL1	55214	broad.mit.edu	37	3	189704649	189704649	+	Silent	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr3:189704649C>G	ENST00000319332.5	-	6	1313	c.1116G>C	c.(1114-1116)gtG>gtC	p.V372V	LEPREL1_ENST00000427335.2_Silent_p.V191V	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	372					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TATGACGTTTCACAAACATTG	0.343000													20	155					0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42577664	42577664	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr4:42577664G>C	ENST00000381668.5	-	13	1412	c.1181C>G	c.(1180-1182)tCt>tGt	p.S394C	ATP8A1_ENST00000264449.10_Missense_Mutation_p.S394C	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	394					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	ATTCAGATTAGATGTTCGAGC	0.343000													10	103					0	0	1	0	0
ATCAY	85300	broad.mit.edu	37	19	3907799	3907799	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr19:3907799G>A	ENST00000450849.2	+	5	893	c.426G>A	c.(424-426)acG>acA	p.T142T	ATCAY_ENST00000398448.3_Silent_p.T148T|ATCAY_ENST00000301260.6_Silent_p.T142T|ATCAY_ENST00000600960.1_Silent_p.T142T	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	142					transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		GGGACGGCACGACGGAGGACG	0.647000													5	44					0	0	1	0	0
DIO3	1735	broad.mit.edu	37	14	102028080	102028080	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr14:102028080G>A	ENST00000359323.3	+	1	393	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	DIO3_ENST00000510508.4_Missense_Mutation_p.E83K	NM_001362.3	NP_001353.4	P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	57					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				GCCCGAGCCCGAAGTGGAGCT	0.667000													6	42					0	0	1	0	0
CLCA1	1179	broad.mit.edu	37	1	86961221	86961221	+	Nonsense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr1:86961221C>G	ENST00000234701.3	+	13	2327	c.1976C>G	c.(1975-1977)tCa>tGa	p.S659*	CLCA1_ENST00000394711.1_Nonsense_Mutation_p.S659*			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	659					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GGTGTCTACTCAAGGTATTTC	0.433000													6	47					0	0	1	0	0
TAS2R20	259295	broad.mit.edu	37	12	11149899	11149899	+	Silent	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr12:11149899C>G	ENST00000538986.1	-	1	575	c.576G>C	c.(574-576)ctG>ctC	p.L192L	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	192					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						GAAAAGATATCAGGGTCAGAG	0.423000													16	100					0	0	1	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55027262	55027262	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr18:55027262G>A	ENST00000324000.3	+	4	2931	c.897G>A	c.(895-897)ctG>ctA	p.L299L		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	299					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		CTAAACGGCTGAGCACAGGTA	0.423000													8	50					0	0	1	0	0
BTLA	151888	broad.mit.edu	37	3	112190167	112190167	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr3:112190167C>T	ENST00000334529.5	-	3	641	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	BTLA_ENST00000383680.4_Intron	NM_181780.3	NP_861445	Q7Z6A9	BTLA_HUMAN	B and T lymphocyte associated	147					T cell costimulation		receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1)	11		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)				CTTGCCATTTCGTCCTTGGAG	0.478000													14	73					0	0	1	0	0
SASS6	163786	broad.mit.edu	37	1	100598329	100598329	+	Silent	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr1:100598329C>G	ENST00000287482.5	-	1	182	c.42G>C	c.(40-42)gtG>gtC	p.V14V	SASS6_ENST00000462159.1_5'UTR|SASS6_ENST00000535161.1_5'UTR	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	14					centriole replication	centriole				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		CTTTGCATTTCACCTGCAACG	0.617000													24	100					0	0	1	0	0
CYP4A22	284541	broad.mit.edu	37	1	47610599	47610599	+	Silent	SNP	C	C	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr1:47610599C>T	ENST00000371891.3	+	9	1210	c.1179C>T	c.(1177-1179)ctC>ctT	p.L393L	CYP4A22_ENST00000485117.1_3'UTR|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Silent_p.L295L|CYP4A22_ENST00000294337.3_Silent_p.L393L	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	393						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GAAGAGAGCTCAGCACTCCCG	0.577000													11	32					0	0	1	0	0
SUN1	23353	broad.mit.edu	37	7	899956	899956	+	Silent	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr7:899956C>G	ENST00000456758.2	+	20	2283	c.2283C>G	c.(2281-2283)ctC>ctG	p.L761L	SUN1_ENST00000413514.2_Silent_p.L370L|SUN1_ENST00000452783.2_Silent_p.L469L|SUN1_ENST00000405266.1_Silent_p.L609L|SUN1_ENST00000425407.2_Silent_p.L489L|SUN1_ENST00000401592.1_Silent_p.L572L|SUN1_ENST00000389574.3_Silent_p.L489L			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	599	SUN.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCAAGCAGCTCCCAACCTCAG	0.602000													4	41					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144993407	144993407	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr8:144993407C>T	ENST00000322810.4	-	32	11162	c.10993G>A	c.(10993-10995)Gag>Aag	p.E3665K	PLEC_ENST00000354958.2_Missense_Mutation_p.E3506K|PLEC_ENST00000357649.2_Missense_Mutation_p.E3532K|PLEC_ENST00000436759.2_Missense_Mutation_p.E3555K|PLEC_ENST00000356346.3_Missense_Mutation_p.E3514K|PLEC_ENST00000398774.2_Missense_Mutation_p.E3496K|PLEC_ENST00000354589.3_Missense_Mutation_p.E3528K|PLEC_ENST00000345136.3_Missense_Mutation_p.E3528K|PLEC_ENST00000527096.1_Missense_Mutation_p.E3551K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3665	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ACGCACCGCTCCAGCAGCTGC	0.632000													17	97					0	0	1	0	0
GAA	2548	broad.mit.edu	37	17	78084817	78084817	+	Silent	SNP	C	C	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr17:78084817C>T	ENST00000302262.3	+	11	1848	c.1629C>T	c.(1627-1629)taC>taT	p.Y543Y	GAA_ENST00000390015.3_Silent_p.Y543Y	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	543					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	ACCCACCCTACGTGCCTGGTC	0.577000													4	27					0	0	1	0	0
USHBP1	83878	broad.mit.edu	37	19	17373384	17373384	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr19:17373384C>G	ENST00000252597.3	-	4	792	c.619G>C	c.(619-621)Gag>Cag	p.E207Q	USHBP1_ENST00000431146.2_Missense_Mutation_p.E143Q	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	207							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						GTCTCCTTCTCAGCTCGGATG	0.622000													16	25					0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161113293	161113293	+	Silent	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr5:161113293C>G	ENST00000523217.1	+	2	338	c.96C>G	c.(94-96)gtC>gtG	p.V32V	GABRA6_ENST00000274545.5_Silent_p.V32V|GABRA6_ENST00000522269.1_3'UTR	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	32					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CAGAAAACGTCAGTCGGATCC	0.483000										TCGA Ovarian(5;0.080)			11	76					0	0	1	0	0
CGB1	114335	broad.mit.edu	37	19	49538925	49538925	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr19:49538925G>C	ENST00000301407.7	-	3	514	c.410C>G	c.(409-411)tCt>tGt	p.S137C	CTB-60B18.6_ENST00000591656.1_Intron|CGB1_ENST00000391869.3_Missense_Mutation_p.S137C	NM_033377.1	NP_203695.2	A6NKQ9	CGB1_HUMAN	chorionic gonadotropin, beta polypeptide 1	169						extracellular region	hormone activity			liver(1)|lung(1)	2		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		CTTTGAGGAAGAGGAGTCCTG	0.632000													5	47					0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50213368	50213368	+	RNA	SNP	C	C	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chrX:50213368C>T	ENST00000376025.2	-	0	369							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					gtggcaggttctggggccggc	0.652000													22	74					0	0	1	0	0
ZNF681	148213	broad.mit.edu	37	19	23927603	23927603	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr19:23927603C>G	ENST00000402377.3	-	4	890	c.749G>C	c.(748-750)aGa>aCa	p.R250T	ZNF681_ENST00000395385.3_Missense_Mutation_p.R181T	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				GAGTTTGTCTCTAGTATAAAT	0.348000													3	43					0	0	1	0	0
HOXD4	3233	broad.mit.edu	37	2	177017652	177017652	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr2:177017652G>A	ENST00000306324.3	+	2	1162	c.750G>A	c.(748-750)acG>acA	p.T250T	HOXD3_ENST00000468418.3_5'UTR	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	250						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		ACCACCACACGGACCTGACGA	0.622000													9	47					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44949083	44949083	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chrX:44949083G>T	ENST00000377967.4	+	25	3685	c.3644G>T	c.(3643-3645)gGa>gTa	p.G1215V	KDM6A_ENST00000382899.4_Missense_Mutation_p.G1222V|KDM6A_ENST00000543216.1_Missense_Mutation_p.G1136V|KDM6A_ENST00000536777.1_Missense_Mutation_p.G1170V	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1215	JmjC.				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CAGCGACCTGGAGATTTGGTC	0.403000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								20	17					1.01871e-10	1.13226e-10	1	1	0
NEB	4703	broad.mit.edu	37	2	152496476	152496476	+	Silent	SNP	C	C	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr2:152496476C>T	ENST00000397345.3	-	62	8986	c.8784G>A	c.(8782-8784)ttG>ttA	p.L2928L	NEB_ENST00000603639.1_Silent_p.L2928L|NEB_ENST00000409198.1_Silent_p.L2928L|NEB_ENST00000172853.10_Silent_p.L2928L|NEB_ENST00000604864.1_Silent_p.L2928L|NEB_ENST00000427231.2_Silent_p.L2928L	NM_001164508.1	NP_001157980	P20929	NEBU_HUMAN	nebulin	2928					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)		TTTTATCACTCAAAATTTCAG	0.423000													23	44					0	0	1	0	0
FAM175A	84142	broad.mit.edu	37	4	84393399	84393399	+	Silent	SNP	C	C	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr4:84393399C>T	ENST00000321945.7	-	4	366	c.258G>A	c.(256-258)aaG>aaA	p.K86K	FAM175A_ENST00000505489.1_5'UTR|FAM175A_ENST00000506553.1_Silent_p.K37K	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A	86	MPN-like.				chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding	p.K86N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						ATAATATTTTCTTCAGTGCTT	0.264000													4	27					0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92732104	92732104	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr7:92732104G>C	ENST00000379958.2	-	3	3576	c.3307C>G	c.(3307-3309)Cta>Gta	p.L1103V		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1103						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GCCCAGTTTAGAGCATTGCCA	0.368000													15	112					0	0	1	0	0
SENP7	57337	broad.mit.edu	37	3	101136502	101136502	+	Silent	SNP	A	A	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr3:101136502A>G	ENST00000394095.2	-	5	470	c.417T>C	c.(415-417)tcT>tcC	p.S139S	SENP7_ENST00000348610.3_Silent_p.S106S|SENP7_ENST00000394091.1_Intron|SENP7_ENST00000314261.7_Intron|SENP7_ENST00000358203.3_Intron|SENP7_ENST00000394094.2_Silent_p.S139S	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	139					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GGCTGTCAACAGATGTCGAAG	0.393000													28	142					0	0	1	0	0
ATP6V0D2	245972	broad.mit.edu	37	8	87153741	87153741	+	Missense_Mutation	SNP	C	C	T	rs147900714		TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr8:87153741C>T	ENST00000285393.3	+	4	686	c.544C>T	c.(544-546)Cgc>Tgc	p.R182C	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	182					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						TGAATTGCTACGCAATAAACT	0.323000													5	58					0	0	1	0	0
TNPO1	3842	broad.mit.edu	37	5	72199592	72199592	+	Silent	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr5:72199592C>G	ENST00000337273.5	+	23	2997	c.2571C>G	c.(2569-2571)ctC>ctG	p.L857L	TNPO1_ENST00000454282.1_Silent_p.L807L|TNPO1_ENST00000506351.2_Silent_p.L849L|TNPO1_ENST00000523768.1_Silent_p.L807L	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	857					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		AAGATGATCTCAGAGACATGT	0.294000													23	121					0	0	1	0	0
RASSF1	11186	broad.mit.edu	37	3	50369258	50369258	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr3:50369258G>C	ENST00000359365.4	-	4	598	c.492C>G	c.(490-492)atC>atG	p.I164M	RASSF1_ENST00000327761.3_Missense_Mutation_p.I94M|RASSF1_ENST00000357043.2_Missense_Mutation_p.I168M|RASSF1_ENST00000395126.3_Missense_Mutation_p.I13M	NM_001206957.1|NM_007182.4|NM_170714.1	NP_001193886.1|NP_009113.3|NP_733832.1	Q9NS23	RASF1_HUMAN	Ras association (RalGDS/AF-6) domain family member 1	168					cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus	microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole	identical protein binding|protein binding|protein N-terminus binding|zinc ion binding			lung(2)|ovary(1)|skin(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GCTGAACCTTGATGAAGCCTG	0.547000													12	36					0	0	1	0	0
TPRA1	131601	broad.mit.edu	37	3	127298697	127298697	+	Silent	SNP	G	G	C	rs138504527		TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr3:127298697G>C	ENST00000355552.3	-	3	520	c.144C>G	c.(142-144)ctC>ctG	p.L48L	TPRA1_ENST00000450633.2_Silent_p.L48L|TPRA1_ENST00000296210.7_Silent_p.L48L|TPRA1_ENST00000489960.1_Silent_p.L48L	NM_001136053.1	NP_001129525.1	Q86W33	TPRA1_HUMAN	transmembrane protein, adipocyte asscociated 1	48					aging|lipid metabolic process	integral to membrane	G-protein coupled receptor activity			endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	9						TGAGCAGCAAGAGGTCCCAGT	0.587000													7	28					0	0	1	0	0
NPAT	4863	broad.mit.edu	37	11	108043385	108043385	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr11:108043385G>C	ENST00000278612.8	-	13	2431	c.2326C>G	c.(2326-2328)Cct>Gct	p.P776A	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	776					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		GATTTAGTAGGAGAAGACAAG	0.378000													12	56					0	0	1	0	0
SERINC4	619189	broad.mit.edu	37	15	44087326	44087326	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr15:44087326C>G	ENST00000319327.6	-	12	1663	c.1429G>C	c.(1429-1431)Gta>Cta	p.V477L	RP11-296A16.1_ENST00000417761.2_Intron|SERINC4_ENST00000249714.3_Missense_Mutation_p.V233L|SERF2_ENST00000409646.1_Intron|SERF2_ENST00000594896.1_Intron|SERINC4_ENST00000299969.6_Silent_p.A402A|SERF2_ENST00000409291.1_Intron	NM_001258031.1	NP_001244960.1	A6NH21	SERC4_HUMAN	serine incorporator 4	477					phospholipid biosynthetic process	integral to membrane				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	6		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;7.81e-07)		TAGAGGAGTACGCAGGCCCAG	0.582000													4	56					0	0	1	0	0
AMFR	267	broad.mit.edu	37	16	56397994	56397994	+	Silent	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr16:56397994G>C	ENST00000290649.5	-	13	1833	c.1623C>G	c.(1621-1623)ctC>ctG	p.L541L		NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	541					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	p.L541L(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						GGCGAGGACTGAGGTCCAGTG	0.637000													8	19					0	0	1	0	0
C4orf17	84103	broad.mit.edu	37	4	100434361	100434361	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr4:100434361C>G	ENST00000514652.1	+	2	477	c.123C>G	c.(121-123)atC>atG	p.I41M	C4orf17_ENST00000326581.4_Missense_Mutation_p.I41M			Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	41										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		TCTGCCACATCAAAGGTAAGG	0.443000													3	87					0	0	1	0	0
ANKRD26	22852	broad.mit.edu	37	10	27366463	27366463	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr10:27366463G>A	ENST00000376087.4	-	9	1046	c.881C>T	c.(880-882)gCa>gTa	p.A294V	ANKRD26_ENST00000466890.1_5'UTR|ANKRD26_ENST00000436985.2_Missense_Mutation_p.A343V	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	294						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						GCCATATGTTGCTTCTACTAC	0.323000													4	56					0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45771737	45771737	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr20:45771737G>C	ENST00000327619.5	+	10	1302	c.928G>C	c.(928-930)Gag>Cag	p.E310Q	EYA2_ENST00000357410.3_Missense_Mutation_p.E310Q|EYA2_ENST00000317304.6_Intron	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	310					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				TATGATGGAAGAGATGATCTT	0.473000													6	48					0	0	1	0	0
C8orf76	84933	broad.mit.edu	37	8	124232437	124232437	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr8:124232437G>A	ENST00000276704.4	-	6	1100	c.1049C>T	c.(1048-1050)tCa>tTa	p.S350L		NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	350							binding			NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			AAATTCTTCTGAGGATACAGT	0.413000													8	55					0	0	1	0	0
FAM83G	644815	broad.mit.edu	37	17	18881990	18881990	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr17:18881990G>C	ENST00000388995.6	-	5	1212	c.989C>G	c.(988-990)tCt>tGt	p.S330C	SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395645.3_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.S330C|FAM83G_ENST00000345041.4_Missense_Mutation_p.S330C|SLC5A10_ENST00000395647.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	330										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GGGGACCACAGAGGGCAGCAC	0.602000													15	101					0	0	1	0	0
DPYSL2	1808	broad.mit.edu	37	8	26501002	26501002	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr8:26501002G>A	ENST00000311151.5	+	9	1271	c.859G>A	c.(859-861)Ggc>Agc	p.G287S	DPYSL2_ENST00000521913.1_Missense_Mutation_p.G251S|DPYSL2_ENST00000523027.1_Missense_Mutation_p.G251S	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	287					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		GGGAACGGACGGCTCCCATTA	0.552000													18	35					0	0	1	0	0
GCC2	9648	broad.mit.edu	37	2	109098272	109098272	+	Splice_Site	SNP	G	G	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr2:109098272G>A	ENST00000309863.6	+	10	3894	c.3180G>A	c.(3178-3180)caG>caA	p.Q1060Q		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1060					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						CGACTTTGCAGGTAATTTTTT	0.279000													15	44					0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30675227	30675227	+	Silent	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr6:30675227G>C	ENST00000376406.3	-	9	3665	c.3018C>G	c.(3016-3018)ctC>ctG	p.L1006L	MDC1_ENST00000376405.2_Silent_p.L742L|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1006				Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						TGCAATTCAGGAGGCCTAGAC	0.512000								Other conserved DNA damage response genes					4	51					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51772275	51772275	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr15:51772275G>A	ENST00000251076.5	-	25	6913	c.6626C>T	c.(6625-6627)tCa>tTa	p.S2209L	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.S2209L|DMXL2_ENST00000449909.3_Missense_Mutation_p.S1573L	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2209						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AATACTTGCTGAAAGCAGAGG	0.363000													26	95					0	0	1	0	0
CERS5	91012	broad.mit.edu	37	12	50537765	50537765	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr12:50537765G>C	ENST00000317551.6	-	2	397	c.273C>G	c.(271-273)atC>atG	p.I91M	CERS5_ENST00000422340.2_Missense_Mutation_p.I33M	NM_147190.2	NP_671723.1	Q8N5B7	CERS5_HUMAN	ceramide synthase 5	91					ceramide biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										CCTTTTCAAGGATGGCATTGG	0.483000													15	91					0	0	1	0	0
HMHA1	23526	broad.mit.edu	37	19	1080503	1080503	+	Silent	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr19:1080503G>C	ENST00000313093.2	+	15	2100	c.1869G>C	c.(1867-1869)tcG>tcC	p.S623S	HMHA1_ENST00000590214.1_Silent_p.S650S|HMHA1_ENST00000586866.1_Silent_p.S627S|HMHA1_ENST00000590577.1_Silent_p.S258S|HMHA1_ENST00000543365.1_Silent_p.S506S|HMHA1_ENST00000536472.1_Silent_p.S491S|HMHA1_ENST00000539243.2_Silent_p.S639S	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	623					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCGCTCTCGATCTCAGACT	0.682000													6	61					0	0	1	0	0
TSEN34	79042	broad.mit.edu	37	19	54695967	54695967	+	Splice_Site	SNP	G	G	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr19:54695967G>T	ENST00000396383.1	+	4	799	c.488G>T	c.(487-489)gGc>gTc	p.G163V	TSEN34_ENST00000302937.4_Splice_Site_p.G163V|TSEN34_ENST00000429671.2_Splice_Site_p.G163V|TSEN34_ENST00000396388.2_Splice_Site_p.G163V			Q9BSV6	SEN34_HUMAN	TSEN34 tRNA splicing endonuclease subunit	163					mRNA processing|tRNA-type intron splice site recognition and cleavage	nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	10	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TCCCCACCAGGCCCCTCGTCT	0.562000													11	65					0.00829132	0.00848584	1	1	0
RAPGEF1	2889	broad.mit.edu	37	9	134464354	134464354	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr9:134464354C>G	ENST00000372195.1	-	17	2623	c.2380G>C	c.(2380-2382)Gag>Cag	p.E794Q	RAPGEF1_ENST00000372189.3_Missense_Mutation_p.E777Q|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.E795Q			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	777	N-terminal Ras-GEF.				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		TTCAGGATCTCTTCTGTCAAC	0.562000													8	36					0	0	1	0	0
SCAI	286205	broad.mit.edu	37	9	127782985	127782985	+	Silent	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr9:127782985G>C	ENST00000336505.6	-	7	634	c.576C>G	c.(574-576)ctC>ctG	p.L192L	SCAI_ENST00000373549.4_Silent_p.L215L	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion		Necessary to inhibit MKL1-induced SRF transcriptional activity (By similarity).				negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						CCATTTTGTTGAGAAGAAGAC	0.264000													26	59					0	0	1	0	0
ZNF28	7576	broad.mit.edu	37	19	53304759	53304759	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr19:53304759C>A	ENST00000438150.2	-	2	1073	c.180G>T	c.(178-180)atG>atT	p.M60I	ZNF28_ENST00000414252.2_Missense_Mutation_p.M60I|ZNF28_ENST00000594602.1_3'UTR|ZNF28_ENST00000360272.4_Missense_Mutation_p.M60I|ZNF28_ENST00000457749.2_Missense_Mutation_p.M113I|ZNF28_ENST00000339844.6_3'UTR			P17035	ZNF28_HUMAN	zinc finger protein 28	113	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TGATTTCTGTCATGGGTGCTG	0.398000													39	305					2.54651e-27	2.89489e-27	1	1	0
AMN	81693	broad.mit.edu	37	14	103390064	103390064	+	Silent	SNP	C	C	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr14:103390064C>T	ENST00000299155.5	+	2	93	c.60C>T	c.(58-60)gtC>gtT	p.V20V		NM_030943.3	NP_112205.2	Q9BXJ7	AMNLS_HUMAN	amnion associated transmembrane protein	20					lipid metabolic process|lipoprotein metabolic process|multicellular organismal development	integral to membrane|plasma membrane				kidney(2)|large_intestine(1)|lung(2)|skin(1)	6				Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCCAGGCGGTCTCCAAACTCT	0.677000													14	22					0	0	1	0	0
NPAT	4863	broad.mit.edu	37	11	108044124	108044124	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr11:108044124C>G	ENST00000278612.8	-	13	1692	c.1587G>C	c.(1585-1587)aaG>aaC	p.K529N	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	529					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		GTTGAGAACTCTTCCCAGAGA	0.318000													5	55					0	0	1	0	0
KRT27	342574	broad.mit.edu	37	17	38935810	38935810	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr17:38935810C>T	ENST00000301656.3	-	5	956	c.916G>A	c.(916-918)Gag>Aag	p.E306K		NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN	keratin 27	306	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				CGTTTCATCTCGATAAGCTCA	0.527000													5	48					0	0	1	0	0
ST8SIA2	8128	broad.mit.edu	37	15	92981806	92981806	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr15:92981806G>C	ENST00000268164.3	+	4	751	c.514G>C	c.(514-516)Ggg>Cgg	p.G172R	ST8SIA2_ENST00000539113.1_Missense_Mutation_p.G151R	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	172					axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			CAGCGGCTGTGGGCAGGAGAT	0.602000													6	19					0	0	1	0	0
DDX53	168400	broad.mit.edu	37	X	23019298	23019298	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chrX:23019298T>C	ENST00000327968.5	+	1	1212	c.1124T>C	c.(1123-1125)aTa>aCa	p.I375T	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	375	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						TACTTGGTTATAGATGAGGCA	0.398000													14	69					0	0	1	0	0
OGT	8473	broad.mit.edu	37	X	70784473	70784473	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chrX:70784473G>C	ENST00000373719.3	+	19	2676	c.2459G>C	c.(2458-2460)gGa>gCa	p.G820A	OGT_ENST00000373701.3_Missense_Mutation_p.G810A	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	820					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					GCTGCAACTGGAGAGGAGGTT	0.368000													8	40					0	0	1	0	0
FSD1	79187	broad.mit.edu	37	19	4310511	4310511	+	Silent	SNP	G	G	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr19:4310511G>A	ENST00000221856.6	+	6	555	c.408G>A	c.(406-408)gcG>gcA	p.A136A	FSD1_ENST00000598010.1_3'UTR|FSD1_ENST00000597590.1_Silent_p.A136A	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	136	COS.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		CATTGAAAGCGAAGGTCAGTG	0.612000													18	34					0	0	1	0	0
SLC5A9	200010	broad.mit.edu	37	1	48695126	48695126	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr1:48695126A>G	ENST00000236495.5	+	5	624	c.574A>G	c.(574-576)Atc>Gtc	p.I192V	SLC5A9_ENST00000420136.2_Missense_Mutation_p.I160V|SLC5A9_ENST00000533824.1_Missense_Mutation_p.I188V|SLC5A9_ENST00000438567.2_Missense_Mutation_p.I167V|RP5-1024N4.4_ENST00000606809.1_RNA	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	167						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						CTTCACCAAGATCTCGGTAGG	0.507000													3	55					0	0	1	0	0
RHBDL3	162494	broad.mit.edu	37	17	30625203	30625203	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr17:30625203A>G	ENST00000269051.4	+	6	775	c.761A>G	c.(760-762)tAc>tGc	p.Y254C	RHBDL3_ENST00000538145.1_Missense_Mutation_p.Y246C|RHBDL3_ENST00000536287.1_Missense_Mutation_p.Y156C	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	254					proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				GGGCTTGTCTACGTGGCCGGT	0.647000													9	43					0	0	1	0	0
ZNF486	90649	broad.mit.edu	37	19	20296852	20296852	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr19:20296852C>G	ENST00000335117.8	+	3	271	c.214C>G	c.(214-216)Ctg>Gtg	p.L72V	CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA|ZNF486_ENST00000597083.1_Missense_Mutation_p.L72V	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	72	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						AATAAAACCTCTGACTATGAA	0.383000													12	69					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141752636	141752636	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr7:141752636C>T	ENST00000475668.2	+	26	3065	c.3011C>T	c.(3010-3012)tCt>tTt	p.S1004F	MGAM_ENST00000549489.2_Missense_Mutation_p.S1004F			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1004					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GACCTATACTCTGTCAGTGAT	0.463000													10	108					0	0	1	0	0
TIPRL	261726	broad.mit.edu	37	1	168153190	168153192	+	In_Frame_Del	DEL	ACA	ACA	-			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr1:168153190_168153192delACA	ENST00000367833.2	+	2	300_302	c.155_157delACA	c.(154-159)gacaac>gac	p.N53del	TIPRL_ENST00000367830.3_In_Frame_Del_p.N53del	NM_152902.3	NP_690866.1	O75663	TIPRL_HUMAN	TIP41, TOR signaling pathway regulator-like (S. cerevisiae)	53					DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity	cytoplasm	protein binding			breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1)	6	all_hematologic(923;0.215)					ATGTTTGGAGACAACGTTTTAAG	0.399													7	133	---	---	---	---					
MGAT4A	11320	broad.mit.edu	37	2	99274715	99274718	+	Frame_Shift_Del	DEL	AATC	AATC	-			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr2:99274715_99274718delAATC	ENST00000264968.3	-	5	910_913	c.547_550delGATT	c.(547-552)gattatfs	p.DY183fs	MGAT4A_ENST00000414521.2_Frame_Shift_Del_p.DY55fs|MGAT4A_ENST00000393487.1_Frame_Shift_Del_p.DY183fs|MGAT4A_ENST00000461884.1_5'UTR|MGAT4A_ENST00000409391.1_Frame_Shift_Del_p.DY183fs			Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A						N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	p.D183V(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						CCATGTACATAATCAATATCTGTC	0.260													16	94	---	---	---	---					
TSPO2	222642	broad.mit.edu	37	6	41010871	41010874	+	Frame_Shift_Del	DEL	ACAG	ACAG	-			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr6:41010871_41010874delACAG	ENST00000373161.1	+	2	392_395	c.147_150delACAG	c.(145-150)gtacagfs	p.VQ49fs	TSPO2_ENST00000470917.1_Frame_Shift_Del_p.VQ49fs|TSPO2_ENST00000373158.2_Frame_Shift_Del_p.VQ49fs	NM_001010873.2	NP_001010873.1	Q5TGU0	TSPO2_HUMAN	translocator protein 2	49					transport	endoplasmic reticulum membrane|integral to membrane	cholesterol binding|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TATTGCTTGTACAGACAGCCATCT	0.515													10	152	---	---	---	---					
RECQL	5965	broad.mit.edu	37	12	21644546	21644547	+	Frame_Shift_Ins	INS	-	-	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr12:21644546_21644547insT	ENST00000444129.2	-	3	588_589	c.120_121insA	c.(118-123)aaagtcfs	p.V41fs	RECQL_ENST00000421138.2_Frame_Shift_Ins_p.V41fs	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ protein-like (DNA helicase Q1-like)	41					DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding	p.V41fs*2(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TTTGTCAGGACTTTTTTTTTCT	0.381								Other identified genes with known or suspected DNA repair function					7	81	---	---	---	---					
ERBB3	2065	broad.mit.edu	37	12	56488257	56488262	+	In_Frame_Del	DEL	AGTCCT	AGTCCT	-	rs56073151		TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr12:56488257_56488262delAGTCCT	ENST00000267101.3	+	15	2216_2221	c.1776_1781delAGTCCT	c.(1774-1782)ggagtccta>gga	p.VL593del	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_In_Frame_Del_p.VL534del	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	593					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GCCCCCATGGAGTCCTAGGTGCCAAG	0.534													13	76	---	---	---	---					
PML	5371	broad.mit.edu	37	15	74326907	74326908	+	Frame_Shift_Ins	INS	-	-	T			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr15:74326907_74326908insT	ENST00000435786.2	+	7	1815_1816	c.1746_1747insT	c.(1747-1749)tccfs	p.S583fs	PML_ENST00000436891.3_Intron|PML_ENST00000569965.1_Intron|PML_ENST00000395132.2_Intron|PML_ENST00000563500.1_3'UTR|PML_ENST00000354026.6_Intron|PML_ENST00000359928.4_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000569477.1_Intron|PML_ENST00000268059.6_Intron|PML_ENST00000268058.3_Intron|PML_ENST00000565898.1_Intron|PML_ENST00000395135.3_Intron	NM_033240.2	NP_150243.2	P29590	PML_HUMAN	promyelocytic leukemia	582					cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						GGACTCCTGCCTCCCCCCATTT	0.589			T	"""RARA, PAX5"""	"""APL, ALL"""								7	41	---	---	---	---					
GDPD1	284161	broad.mit.edu	37	17	57351033	57351034	+	Frame_Shift_Ins	INS	-	-	A			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr17:57351033_57351034insA	ENST00000284116.4	+	10	981_982	c.844_845insA	c.(844-846)gaafs	p.E282fs	GDPD1_ENST00000581140.1_Intron	NM_182569.3	NP_872375.2	Q8N9F7	GDPD1_HUMAN	glycerophosphodiester phosphodiesterase domain containing 1	282	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					GGTATTAAATGAAGAACAAGAA	0.307													18	81	---	---	---	---					
LOC101927755	101927755	broad.mit.edu	37	17	58066608	58066608	+	RNA	DEL	T	T	-			TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr17:58066608delT	ENST00000586209.1	+	0	158																											TTGATTGTGATTTTTTTTTTT	0.313													5	10	---	---	---	---					
TSPEAR	54084	broad.mit.edu	37	21	45953690	45953703	+	Frame_Shift_Del	DEL	GGCGCCGGCCGTGT	GGCGCCGGCCGTGT	-	rs148095760	byFrequency	TCGA-4Z-AA7Q-01A-11D-A391-08	TCGA-4Z-AA7Q-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df6d5fd-00b4-4f72-9cd0-74a214d33fec	b3c3217c-9c2c-4534-8f51-d5698fb5a5d9	g.chr21:45953690_45953703delGGCGCCGGCCGTGT	ENST00000323084.4	-	3	472_485	c.407_420delACACGGCCGGCGCC	c.(406-420)gacacggccggcgccfs	p.DTAGA136fs	TSPEAR_ENST00000397916.1_Frame_Shift_Del_p.DTAGA68fs	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	136	TSP N-terminal.				cell adhesion	extracellular region	structural molecule activity	p.T137T(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GGGTCTGCCAGGCGCCGGCCGTGTCCTCGCGAAG	0.678													7	19	---	---	---	---