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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
GTF3C5	9328	broad.mit.edu	37	9	135917680	135917680	+	Silent	SNP	T	A	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr9:135917680T>A	uc004ccj.4	+	1	697	c.360T>A	c.(358-360)atT>atA	p.I120I	GTF3C5_uc010mzz.2_Intron|GTF3C5_uc004cci.4_Silent_p.I120I	NM_001122823	NP_001116295	Q9Y5Q8	TF3C5_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 5, 63kDa (GTF3C5), transcript variant 1, mRNA.	120						transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		TCTCCACCATTTACAAATTTC	0.532000														51			30		0	0	0.009535	0	0
KIAA1407	57577	broad.mit.edu	37	3	113721375	113721375	+	Missense_Mutation	SNP	C	A	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr3:113721375C>A	uc003eax.3	-	11	2136	c.1989G>T	c.(1987-1989)gaG>gaT	p.E663D	KIAA1407_uc011bin.1_Non-coding_Transcript	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	Homo sapiens KIAA1407 (KIAA1407), mRNA.	663										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GAATTGCTCTCTCTTCCATAG	0.318000														60			27		4.15321e-07	9.69083e-07	0.009535	1	0
LMLN	89782	broad.mit.edu	37	3	197687145	197687145	+	Missense_Mutation	SNP	G	A	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr3:197687145G>A	uc010iar.3	+	0	75	c.53G>A	c.(52-54)gGt>gAt	p.G18D	IQCG_uc003fyp.3_5'Flank|LMLN_uc003fyt.3_Silent_p.G6G|LMLN_uc011buo.2_Missense_Mutation_p.G18D|LMLN_uc010ias.3_Silent_p.G6G|LMLN_uc003fyu.3_5'UTR	NM_001136049	NP_001129521	Q96KR4	LMLN_HUMAN	Homo sapiens leishmanolysin-like (metallopeptidase M8 family) (LMLN), transcript variant 1, mRNA.	18					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		GGAGGAGTGGGTTACTCGGGC	0.736000														42			10		0	0	0.008291	0	0
GTF3C5	9328	broad.mit.edu	37	9	135917679	135917679	+	Missense_Mutation	SNP	T	A	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr9:135917679T>A	uc004ccj.4	+	1	696	c.359T>A	c.(358-360)aTt>aAt	p.I120N	GTF3C5_uc010mzz.2_Intron|GTF3C5_uc004cci.4_Missense_Mutation_p.I120N	NM_001122823	NP_001116295	Q9Y5Q8	TF3C5_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 5, 63kDa (GTF3C5), transcript variant 1, mRNA.	120						transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		ATCTCCACCATTTACAAATTT	0.532000														52			31		0	0	0.010818	0	0
AGXT2L2	85007	broad.mit.edu	37	5	177642285	177642285	+	Silent	SNP	C	T	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr5:177642285C>T	uc003miz.3	-	8	1326	c.1074G>A	c.(1072-1074)ggG>ggA	p.G358G	AGXT2L2_uc003miy.3_Silent_p.G83G|AGXT2L2_uc003mjc.3_Silent_p.G317G|AGXT2L2_uc003mjb.3_Silent_p.G83G|AGXT2L2_uc003mja.3_Non-coding_Transcript|AGXT2L2_uc003mjd.1_Silent_p.G216G	NM_153373	NP_699204	Q8IUZ5	AT2L2_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase 2-like 2 (AGXT2L2), mRNA.	358						mitochondrion	pyridoxal phosphate binding|transaminase activity			breast(1)|endometrium(2)|large_intestine(1)|pancreas(1)|prostate(1)	6	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.181)|all cancers(165;0.235)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	ACCTGACATCCCCGACGATGG	0.567000														21			22		0	0	0.002780	0	0
PCDH12	51294	broad.mit.edu	37	5	141336615	141336615	+	Missense_Mutation	SNP	C	T	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr5:141336615C>T	uc003llx.3	-	0	2013	c.802G>A	c.(802-804)Gcc>Acc	p.A268T		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	Homo sapiens protocadherin 12 (PCDH12), mRNA.	268	Cadherin 3.				neuron recognition	integral to plasma membrane	calcium ion binding	p.A268T(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGTCTGTGGCGGTCAGTTTT	0.527000														54			34		0	0	0.012213	0	0
FBXW12	285231	broad.mit.edu	37	3	48436087	48436087	+	Missense_Mutation	SNP	A	G	G			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr3:48436087A>G	uc003csr.3	+	10	1544	c.1358A>G	c.(1357-1359)gAc>gGc	p.D453G	FBXW12_uc010hjv.3_Missense_Mutation_p.D434G|FBXW12_uc003css.3_Missense_Mutation_p.D383G|FBXW12_uc010hjw.3_Missense_Mutation_p.D352G	NM_207102	NP_996985	Q6X9E4	FBW12_HUMAN	Homo sapiens F-box and WD repeat domain containing 12 (FBXW12), transcript variant 1, mRNA.	453										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AAAGTAAGTGACTCCAGCATT	0.358000														110			47		0	0	0.014410	0	0
CHD7	55636	broad.mit.edu	37	8	61654762	61654762	+	Silent	SNP	T	C	C			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr8:61654762T>C	uc003xue.3	+	1	1263	c.771T>C	c.(769-771)caT>caC	p.H257H	CHD7_uc022aux.1_Silent_p.H257H	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	257					T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AGCAGTTCCATCACCACCCCT	0.582000														106			71		0	0	0.014410	0	0
DOCK1	1793	broad.mit.edu	37	10	128788791	128788791	+	Missense_Mutation	SNP	C	G	G			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr10:128788791C>G	uc010qun.2	+	5	461	c.397C>G	c.(397-399)Ctt>Gtt	p.L133V	DOCK1_uc001ljt.3_Missense_Mutation_p.L133V	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA.	133					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		ATCACAAATTCTTTCTGGAAC	0.393000														12			11		0	0	0.008291	0	0
FAM86FP	653113	broad.mit.edu	37	12	8384397	8384397	+	RNA	SNP	C	T	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr12:8384397C>T	uc010sgk.2	-	4		c.1391G>A								Homo sapiens family with sequence similarity 86, member F, pseudogene (FAM86FP), non-coding RNA.																		CCCCAGGGCCCCTGCTGTCCT	0.587000														77			6		0	0	0.008291	0	0
KRTAP10-3	386682	broad.mit.edu	37	21	45978008	45978008	+	Silent	SNP	G	A	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr21:45978008G>A	uc002zfj.1	-	0	636	c.591C>T	c.(589-591)ctC>ctT	p.L197L	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198696	NP_941969	P60369	KR103_HUMAN	Homo sapiens keratin associated protein 10-3 (KRTAP10-3), mRNA.	197	18 X 5 AA repeats of C-C-X(3).					keratin filament				kidney(1)|lung(4)|prostate(1)|skin(1)	7						GGCGGCAGAGGAGGGACACGC	0.701000														11			12		0	0	0.003163	0	0
LGI4	163175	broad.mit.edu	37	19	35617247	35617247	+	Missense_Mutation	SNP	A	G	G			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr19:35617247A>G	uc002nxx.2	-	7	1820	c.1226T>C	c.(1225-1227)gTc>gCc	p.V409A	LGI4_uc002nxy.1_Missense_Mutation_p.V237A|LGI4_uc002nxz.1_Missense_Mutation_p.V237A	NM_139284	NP_644813	Q8N135	LGI4_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 4 (LGI4), mRNA.	409						extracellular region				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			TGTGGCATAGACATCCTCGGC	0.682000														18			14		0	0	0.004007	0	0
GSTT1	2952	broad.mit.edu	37	22	24376512	24376512	+	Missense_Mutation	SNP	C	T	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr22:24376512C>T	uc002zze.4	-	4	687	c.634G>A	c.(634-636)Gag>Aag	p.E212K	GSTT1_uc010gug.3_Non-coding_Transcript|GSTT1_uc011ajl.2_Missense_Mutation_p.E94K|GSTT1_uc010guh.3_Non-coding_Transcript	NM_000853	NP_000844	P30711	GSTT1_HUMAN	Homo sapiens glutathione S-transferase theta 1 (GSTT1), mRNA.	212	GST C-terminal.				glutathione metabolic process	cytosol|soluble fraction	glutathione peroxidase activity|glutathione transferase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6					Glutathione(DB00143)	AGAATGACCTCATGGGCCTCC	0.632000									Myelodysplasia and Acute Myeloid Leukemia (AML), Familial					65			6		0	0	0.001984	0	0
SPAG5	10615	broad.mit.edu	37	17	26919846	26919846	+	Missense_Mutation	SNP	T	C	C			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr17:26919846T>C	uc002hbq.3	-	2	508	c.416A>G	c.(415-417)cAg>cGg	p.Q139R	SPAG5_uc010waq.1_Intron	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN	Homo sapiens sperm associated antigen 5 (SPAG5), mRNA.	139					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					GTCTTGTTGCTGCCCCAGTGG	0.453000														85			121		0	0	0.014410	0	0
LRRC49	54839	broad.mit.edu	37	15	71341790	71341790	+	Missense_Mutation	SNP	G	A	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr15:71341790G>A	uc010ukf.2	+	15	2221	c.1915G>A	c.(1915-1917)Gac>Aac	p.D639N	LRRC49_uc002asu.3_Missense_Mutation_p.D624N|LRRC49_uc002asx.3_Missense_Mutation_p.D590N|LRRC49_uc002asw.3_Missense_Mutation_p.D634N|LRRC49_uc002asy.3_Missense_Mutation_p.D340N|LRRC49_uc002asz.3_Missense_Mutation_p.D606N	NM_001199017	NP_001185946	Q8IUZ0	LRC49_HUMAN	Homo sapiens leucine rich repeat containing 49 (LRRC49), transcript variant 1, mRNA.	634						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						ATATATAGAAGACCTTGTGAA	0.333000														66			38		0	0	0.004289	0	0
UNC50	25972	broad.mit.edu	37	2	99232895	99232895	+	Splice_Site	SNP	A	T	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr2:99232895A>T	uc010yvl.2	+	5	827	c.593_splice	c.e5-1	p.H198_splice	UNC50_uc002szc.4_Splice_Site_p.H181_splice|UNC50_uc002szb.3_Splice_Site_p.H181_splice	NM_014044	NP_054763	Q53HI1	UNC50_HUMAN	Homo sapiens unc-50 homolog (C. elegans) (UNC50), mRNA.	181					protein transport	Golgi membrane|integral to membrane|nuclear inner membrane	RNA binding			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						CTTCTGGCAGATGTTATCCTG	0.373000														56			42		0	0	0.006999	0	0
KCTD20	222658	broad.mit.edu	37	6	36454734	36454734	+	Missense_Mutation	SNP	C	T	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr6:36454734C>T	uc003ome.3	+	7	1433	c.1042C>T	c.(1042-1044)Cgc>Tgc	p.R348C	KCTD20_uc011dtn.2_Missense_Mutation_p.R102C|KCTD20_uc010jwk.3_Missense_Mutation_p.R182C|KCTD20_uc011dto.2_Missense_Mutation_p.R102C|KCTD20_uc011dtm.2_Missense_Mutation_p.R203C	NM_173562	NP_775833	Q7Z5Y7	KCD20_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 20 (KCTD20), mRNA.	348						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						TTATGTACAACGCCCCTTCAT	0.463000														67			41		0	0	0.006999	0	0
ANKRD44	91526	broad.mit.edu	37	2	197986231	197986231	+	Missense_Mutation	SNP	T	C	C			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr2:197986231T>C	uc021vuj.1	-	7	924	c.731A>G	c.(730-732)cAc>cGc	p.H244R	ANKRD44_uc002utz.4_5'UTR|ANKRD44_uc021vuk.1_Missense_Mutation_p.H219R|ANKRD44_uc002uub.3_Missense_Mutation_p.H244R|ANKRD44_uc010zgw.2_Missense_Mutation_p.H172R|ANKRD44_uc002uuc.3_Missense_Mutation_p.H244R	NM_001195144	NP_001182073	Q8N8A2	ANR44_HUMAN	Homo sapiens ankyrin repeat domain 44 (ANKRD44), transcript variant A, mRNA.	244							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GCAGGCGATGTGAAGCGCTGT	0.433000														23			14		0	0	0.004990	0	0
WASH6P	653440	broad.mit.edu	37	X	155255024	155255024	+	Silent	SNP	C	T	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chrX:155255024C>T	uc022cip.1	+	6	984	c.780C>T	c.(778-780)gaC>gaT	p.D260D						RecName: Full=WAS protein family homolog 6; AltName: Full=Protein FAM39A;																		AGGACGAGGACGACTGGGAAT	0.647000														5			7		0	0	0.004482	0	0
POLQ	10721	broad.mit.edu	37	3	121217327	121217327	+	Missense_Mutation	SNP	T	G	G			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr3:121217327T>G	uc003eee.4	-	12	2279	c.2150A>C	c.(2149-2151)aAa>aCa	p.K717T		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	717					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CGTTTACCTTTTATGGATGGC	0.453000								DNA polymerases (catalytic subunits)						78			99		0	0	0.014410	0	0
MRS2	57380	broad.mit.edu	37	6	24418322	24418322	+	Missense_Mutation	SNP	A	T	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr6:24418322A>T	uc011djl.2	+	8	978	c.856A>T	c.(856-858)Agt>Tgt	p.S286C	MRS2_uc003nea.3_Missense_Mutation_p.S283C|MRS2_uc003neb.3_Missense_Mutation_p.S283C|MRS2_uc011djm.2_Non-coding_Transcript|MRS2_uc011djn.2_Missense_Mutation_p.S233C	NM_020662	NP_065713	Q9HD23	MRS2_HUMAN	Homo sapiens MRS2 magnesium homeostasis factor homolog (S. cerevisiae) (MRS2), mRNA.	283					ion transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						TGAAAAGAGCAGTGCTGGGAT	0.388000														45			37		0	0	0.004878	0	0
FAT1	2195	broad.mit.edu	37	4	187530418	187530418	+	Silent	SNP	T	A	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr4:187530418T>A	uc003izf.3	-	15	10313	c.10125A>T	c.(10123-10125)atA>atT	p.I3375I		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	3375	Cadherin 31.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GGTTGCCATCTATAATTGAGT	0.478000										HNSCC(5;0.00058)				41			30		0	0	0.007291	0	0
TDP1	55775	broad.mit.edu	37	14	90429932	90429932	+	Silent	SNP	G	A	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr14:90429932G>A	uc001xxy.3	+	2	773	c.474G>A	c.(472-474)ctG>ctA	p.L158L	TDP1_uc010atm.3_Non-coding_Transcript|TDP1_uc001xxz.3_Silent_p.L158L|TDP1_uc010atn.3_Silent_p.L158L|TDP1_uc001xya.3_5'UTR|TDP1_uc001xyb.3_Non-coding_Transcript	NM_018319	NP_060789	Q9NUW8	TYDP1_HUMAN	Homo sapiens tyrosyl-DNA phosphodiesterase 1 (TDP1), transcript variant 1, mRNA.	158					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		GGGACATGCTGGATAAAGGGA	0.512000								Repair of DNA-protein crosslinks						59			44		0	0	0.011902	0	0
PTPRD	5789	broad.mit.edu	37	9	8460558	8460558	+	Missense_Mutation	SNP	G	T	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr9:8460558G>T	uc003zkk.3	-	32	4471	c.3728C>A	c.(3727-3729)aCc>aAc	p.T1243N	PTPRD_uc003zkp.3_Missense_Mutation_p.T832N|PTPRD_uc003zkq.3_Missense_Mutation_p.T832N|PTPRD_uc003zkr.3_Missense_Mutation_p.T827N|PTPRD_uc003zks.3_Missense_Mutation_p.T822N|PTPRD_uc022bdj.1_Missense_Mutation_p.T829N	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1243					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GTAAGGGCTGGTTGCATACAT	0.433000										TSP Lung(15;0.13)				42			30		3.86903e-22	9.38884e-22	0.013726	1	0
C7orf26	79034	broad.mit.edu	37	7	6639834	6639834	+	Missense_Mutation	SNP	T	G	G			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr7:6639834T>G	uc003sqo.1	+	3	955	c.955T>G	c.(955-957)Ttc>Gtc	p.F319V	C7orf26_uc003sqp.1_Missense_Mutation_p.F222V	NM_024067	NP_076972	Q96N11	CG026_HUMAN	Homo sapiens chromosome 7 open reading frame 26 (C7orf26), mRNA.	319										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		GCTGATCCTCTTCGACCACAT	0.582000														11			23		0	0	0.003330	0	0
FSCB	84075	broad.mit.edu	37	14	44975261	44975261	+	Silent	SNP	C	T	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr14:44975261C>T	uc001wvn.3	-	0	1239	c.930G>A	c.(928-930)gcG>gcA	p.A310A		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.	310						cilium		p.A310V(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CAGAATTCTCCGCAACTGCAG	0.527000														44			35		0	0	0.003271	0	0
C16orf86	388284	broad.mit.edu	37	16	67702137	67702137	+	Nonsense_Mutation	SNP	C	G	G			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr16:67702137C>G	uc002ety.3	+	3	745	c.588C>G	c.(586-588)taC>taG	p.Y196*	C16orf48_uc002etw.1_5'Flank|C16orf86_uc002etx.1_3'UTR|C16orf86_uc002etz.3_Non-coding_Transcript	NM_001012984	NP_001013002	Q6ZW13	CP086_HUMAN	Homo sapiens chromosome 16 open reading frame 86 (C16orf86), mRNA.	196								p.Q195*(1)		endometrium(2)|lung(4)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		TGTACCAGTACGTCAACTATT	0.667000											OREG0023886	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		14			18		0	0	0.004990	0	0
CEL	1056	broad.mit.edu	37	9	135941956	135941956	+	Missense_Mutation	SNP	G	T	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr9:135941956G>T	uc010naa.1	+	4	603	c.587G>T	c.(586-588)tGg>tTg	p.W196L		NM_001807	NP_001798	P19835	CEL_HUMAN	Homo sapiens carboxyl ester lipase (bile salt-stimulated lipase) (CEL), mRNA.	193					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GCCATTGCTTGGGTGAAGAGG	0.642000														118			9		0.000274275	0.000616273	0.004482	1	0
SLC13A2	9058	broad.mit.edu	37	17	26818545	26818545	+	Missense_Mutation	SNP	G	A	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr17:26818545G>A	uc010wan.2	+	4	879	c.812G>A	c.(811-813)aGc>aAc	p.S271N	SLC13A2_uc010wal.1_Missense_Mutation_p.S179N|SLC13A2_uc010wam.2_Missense_Mutation_p.S178N|SLC13A2_uc002hbh.3_Missense_Mutation_p.S222N|SLC13A2_uc010wao.2_Missense_Mutation_p.S179N|SLC13A2_uc002hbi.3_Missense_Mutation_p.S151N	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA.	222						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CAGTGCATGAGCCTGTGCGTG	0.617000														89			40		0	0	0.009718	0	0
GOLGA6L5	374650	broad.mit.edu	37	15	85056021	85056021	+	RNA	SNP	T	C	C	rs1062001		TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr15:85056021T>C	uc002bkm.2	-	5		c.539A>G								Homo sapiens golgin A6 family-like 5 (pseudogene) (GOLGA6L5), non-coding RNA.																		GTAGCTGCTCTACCTTAGATG	0.502000														17			3		0	0	0.004672	0	0
POLDIP2	26073	broad.mit.edu	37	17	26684350	26684350	+	Missense_Mutation	SNP	G	A	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr17:26684350G>A	uc002haz.3	-	1	249	c.119C>T	c.(118-120)gCg>gTg	p.A40V	POLDIP2_uc010wag.2_Non-coding_Transcript|TMEM199_uc002hba.3_5'Flank|TMEM199_uc010wah.1_5'Flank	NM_015584	NP_056399	Q9Y2S7	PDIP2_HUMAN	Homo sapiens polymerase (DNA-directed), delta interacting protein 2 (POLDIP2), mRNA.	42						mitochondrial nucleoid|nucleus						all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		CGTGGTCGACGCTGGCGAGAA	0.736000														10			14		0	0	0.004990	0	0
OR56A1	120796	broad.mit.edu	37	11	6048449	6048449	+	Silent	SNP	A	G	G			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr11:6048449A>G	uc010qzw.2	-	0	523	c.486T>C	c.(484-486)ctT>ctC	p.L162L		NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 1 (OR56A1), mRNA.	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L161F(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGTGCAGTAAGAAGCGCAT	0.498000														52			43		0	0	0.014410	0	0
SLK	9748	broad.mit.edu	37	10	105763115	105763115	+	Missense_Mutation	SNP	G	A	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr10:105763115G>A	uc001kxo.1	+	8	2213	c.2179G>A	c.(2179-2181)Ggt>Agt	p.G727S	SLK_uc001kxp.1_Missense_Mutation_p.G727S	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	Homo sapiens STE20-like kinase (SLK), mRNA.	727					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AGAAGAAATAGGTTCTTTATC	0.393000														34			28		0	0	0.005443	0	0
MLLT4	4301	broad.mit.edu	37	6	168344092	168344092	+	Missense_Mutation	SNP	T	A	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr6:168344092T>A	uc021zik.1	+	23	3351	c.3032T>A	c.(3031-3033)cTa>cAa	p.L1011Q	MLLT4_uc003qwb.1_Missense_Mutation_p.L1036Q|MLLT4_uc003qwc.2_Missense_Mutation_p.L1052Q|MLLT4_uc021zij.1_Missense_Mutation_p.L1035Q|MLLT4_uc021zim.1_Missense_Mutation_p.L598Q|MLLT4_uc003qwg.1_Missense_Mutation_p.L361Q	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	1052	PDZ.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GATGGACGTCTAGCTGCAGGT	0.458000			T	MLL	AL									107			83		0	0	0.014410	0	0
AGT	183	broad.mit.edu	37	1	230841797	230841797	+	Missense_Mutation	SNP	A	T	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr1:230841797A>T	uc001hty.4	-	2	1514	c.1006T>A	c.(1006-1008)Ttc>Atc	p.F336I	AGT_uc009xff.3_Missense_Mutation_p.F308I	NM_000029	NP_000020	P01019	ANGT_HUMAN	Homo sapiens angiotensinogen (serpin peptidase inhibitor, clade A, member 8) (AGT), mRNA.	336					G-protein signaling, coupled to cGMP nucleotide second messenger|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	CTCTCAGTGAAGGGCACTTGA	0.562000														61			45		0	0	0.014410	0	0
LRRC49	54839	broad.mit.edu	37	15	71341787	71341787	+	Missense_Mutation	SNP	G	A	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr15:71341787G>A	uc010ukf.2	+	15	2218	c.1912G>A	c.(1912-1914)Gaa>Aaa	p.E638K	LRRC49_uc002asu.3_Missense_Mutation_p.E623K|LRRC49_uc002asx.3_Missense_Mutation_p.E589K|LRRC49_uc002asw.3_Missense_Mutation_p.E633K|LRRC49_uc002asy.3_Missense_Mutation_p.E339K|LRRC49_uc002asz.3_Missense_Mutation_p.E605K	NM_001199017	NP_001185946	Q8IUZ0	LRC49_HUMAN	Homo sapiens leucine rich repeat containing 49 (LRRC49), transcript variant 1, mRNA.	633						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						AACATATATAGAAGACCTTGT	0.333000														67			35		0	0	0.013726	0	0
SRRM2	23524	broad.mit.edu	37	16	2814253	2814253	+	Missense_Mutation	SNP	G	A	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr16:2814253G>A	uc002crk.3	+	10	4273	c.3724G>A	c.(3724-3726)Gta>Ata	p.V1242I	SRRM2_uc002crj.1_Missense_Mutation_p.V1146I|SRRM2_uc002crl.1_Missense_Mutation_p.V1242I|SRRM2_uc010bsu.1_Missense_Mutation_p.V1146I	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	1242	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AATGGAGGTGGTAGAGAAGTC	0.443000														196			61		0	0	0.014410	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47641990	47641990	+	Silent	SNP	C	T	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr20:47641990C>T	uc002xtx.4	+	35	5048	c.4896C>T	c.(4894-4896)taC>taT	p.Y1632Y	ARFGEF2_uc010zyf.2_Silent_p.Y925Y	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	1632					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	Golgi membrane|cytosol	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			ACTCCAATTACGAGCAGCGGA	0.473000														29			20		0	0	0.012319	0	0
PCIF1	63935	broad.mit.edu	37	20	44574469	44574469	+	Missense_Mutation	SNP	A	C	C			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr20:44574469A>C	uc002xqs.3	+	11	1602	c.1288A>C	c.(1288-1290)Atc>Ctc	p.I430L	PCIF1_uc002xqt.3_Missense_Mutation_p.I10L	NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN	Homo sapiens PDX1 C-terminal inhibiting factor 1 (PCIF1), mRNA.	430						nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						CGTGGTCTGCATCCGGTATAA	0.602000														78			41		0	0	0.014410	0	0
NRCAM	4897	broad.mit.edu	37	7	107808822	107808822	+	Silent	SNP	G	A	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr7:107808822G>A	uc022aka.1	-	25	3319	c.3213C>T	c.(3211-3213)agC>agT	p.S1071S	NRCAM_uc011kmk.2_Intron|NRCAM_uc003vfd.3_Intron|NRCAM_uc003vfe.3_Intron|NRCAM_uc003vfc.3_Intron|NRCAM_uc011kmj.2_Intron	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	Homo sapiens neuronal cell adhesion molecule (NRCAM), transcript variant 1, mRNA.	1071	Fibronectin type-III 5.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CAGTAAGATTGCTGATCCTGG	0.363000														47			24		0	0	0.003330	0	0
ITGB7	3695	broad.mit.edu	37	12	53586547	53586547	+	Missense_Mutation	SNP	T	C	C			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr12:53586547T>C	uc009zmv.3	-	11	1945	c.1874A>G	c.(1873-1875)cAg>cGg	p.Q625R	ITGB7_uc001scc.3_Missense_Mutation_p.Q625R|ITGB7_uc010snz.2_Intron	NM_000889	NP_000880	P26010	ITB7_HUMAN	Homo sapiens integrin, beta 7 (ITGB7), mRNA.	625	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTCCAAGCACTGGCAGCGGTT	0.597000														36			51		0	0	0.014410	0	0
ZNF232	7775	broad.mit.edu	37	17	5009512	5009512	+	Silent	SNP	A	G	G			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr17:5009512A>G	uc002gat.3	-	4	1597	c.942T>C	c.(940-942)taT>taC	p.Y314Y	ZNF232_uc002gar.1_Silent_p.Y305Y	NM_014519	NP_055334	Q9UNY5	ZN232_HUMAN	Homo sapiens zinc finger protein 232 (ZNF232), mRNA.	287					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						GATGTGAGTTATAAATGAAGG	0.428000														124			42		0	0	0.008740	0	0
PUM2	23369	broad.mit.edu	37	2	20518349	20518349	+	Missense_Mutation	SNP	C	T	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr2:20518349C>T	uc002rds.1	-	1	127	c.109G>A	c.(109-111)Ggc>Agc	p.G37S	PUM2_uc002rdt.1_Missense_Mutation_p.G37S|PUM2_uc002rdr.2_5'UTR|PUM2_uc010yjy.1_Missense_Mutation_p.G37S|PUM2_uc002rdu.1_Missense_Mutation_p.G37S|PUM2_uc010yjz.1_Intron	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	Homo sapiens pumilio homolog 2 (Drosophila) (PUM2), mRNA.	37	Interaction with SNAPIN.				regulation of translation	perinuclear region of cytoplasm|stress granule	RNA binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAAATATGCCTTTTTGTCCA	0.338000														41			25		0	0	0.010818	0	0
ZNF20	7568	broad.mit.edu	37	19	12246707	12246707	+	Missense_Mutation	SNP	A	C	C			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr19:12246707A>C	uc002mtg.2	-	5	598	c.16T>G	c.(16-18)Tca>Gca	p.S6A	ZNF20_uc002mte.2_5'UTR|ZNF20_uc002mtf.2_Missense_Mutation_p.S6A|ZNF20_uc021upm.1_Missense_Mutation_p.S3A	NM_021143	NP_066966	P17024	ZNF20_HUMAN	Homo sapiens zinc finger protein 20 (ZNF20), transcript variant 1, mRNA.	6					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|lung(6)	8						AAGGCCACTGAATCCTGAAAC	0.468000														38			32		0	0	0.012213	0	0
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	T	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr13:115047559C>T	uc001vup.3	+	1	327	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	UPF3A_uc010tkn.2_Silent_p.L91L|UPF3A_uc001vuq.3_Silent_p.L91L|UPF3A_uc001vur.3_Non-coding_Transcript	NM_023011	NP_075387	Q9H1J1	REN3A_HUMAN	Homo sapiens UPF3 regulator of nonsense transcripts homolog A (yeast) (UPF3A), transcript variant 1, mRNA.	91	Required for interaction with UPF2.				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	RNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	p.L91L(16)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCTGCGCCCGCTGCCAGCACA	0.731000														13			3		0	0	0.004672	0	0
ZNF546	339327	broad.mit.edu	37	19	40520846	40520846	+	Missense_Mutation	SNP	G	A	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr19:40520846G>A	uc002oms.2	+	6	1925	c.1669G>A	c.(1669-1671)Gaa>Aaa	p.E557K	ZNF546_uc002omt.2_Missense_Mutation_p.E531K	NM_178544	NP_848639	Q86UE3	ZN546_HUMAN	Homo sapiens zinc finger protein 546 (ZNF546), mRNA.	557					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGAATGTAAGGAATGTGGGAA	0.388000														31			40		0	0	0.005524	0	0
CPNE7	27132	broad.mit.edu	37	16	89662976	89662976	+	Missense_Mutation	SNP	C	A	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr16:89662976C>A	uc002fnp.3	+	16	1979	c.1849C>A	c.(1849-1851)Ccg>Acg	p.P617T	CPNE7_uc002fnq.3_Missense_Mutation_p.P542T	NM_014427	NP_055242	Q9UBL6	CPNE7_HUMAN	Homo sapiens copine VII (CPNE7), transcript variant 2, mRNA.	617					lipid metabolic process		transporter activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		AGGCCTGCCCCCGAGAAGCCT	0.667000														81			8		0.000157383	0.000358047	0.003080	1	0
ULBP1	80329	broad.mit.edu	37	6	150289835	150289835	+	Missense_Mutation	SNP	C	A	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr6:150289835C>A	uc003qnp.3	+	1	221	c.178C>A	c.(178-180)Cct>Act	p.P60T		NM_025218	NP_079494	Q9BZM6	N2DL1_HUMAN	Homo sapiens UL16 binding protein 1 (ULBP1), mRNA.	60	MHC class I alpha-1 like.				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	MHC class I protein complex|anchored to membrane|endoplasmic reticulum	MHC class I receptor activity			large_intestine(3)|lung(5)|pancreas(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		GGATGAAAGGCCTTTTCTTCA	0.453000														86			74		7.81431e-29	1.97528e-28	0.014410	1	0
TET2	54790	broad.mit.edu	37	4	106157461	106157461	+	Nonsense_Mutation	SNP	G	T	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr4:106157461G>T	uc011cez.2	+	2	2830	c.2425G>T	c.(2425-2427)Gaa>Taa	p.E809*	TET2_uc003hxk.3_Nonsense_Mutation_p.E788*|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_Nonsense_Mutation_p.E788*|TET2_uc010ilp.2_Nonsense_Mutation_p.E788*|TET2_uc021xql.1_Nonsense_Mutation_p.E788*	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA.	788	Gln-rich.				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.E808fs*5(1)|p.E788K(1)|p.E788*(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TTTTCATGGTGAAAATCAGTA	0.393000			"""Mis N, F"""		MDS									21			22		1.55795e-14	3.73087e-14	0.012319	1	0
SCARF1	8578	broad.mit.edu	37	17	1538231	1538231	+	Missense_Mutation	SNP	T	C	C			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr17:1538231T>C	uc002fsz.1	-	10	2364	c.2314A>G	c.(2314-2316)Aga>Gga	p.R772G	SCARF1_uc002fsy.1_3'UTR|SCARF1_uc002fta.1_Non-coding_Transcript|SCARF1_uc010cjv.1_Missense_Mutation_p.R686G	NM_003693	NP_003684	Q14162	SREC_HUMAN	Homo sapiens scavenger receptor class F, member 1 (SCARF1), transcript variant 1, mRNA.	772	Gly-rich.				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TCCTCTGGTCTGACTGCCATA	0.657000														33			44		0	0	0.009718	0	0
SLC24A3	57419	broad.mit.edu	37	20	19665982	19665982	+	Missense_Mutation	SNP	C	T	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr20:19665982C>T	uc002wrl.3	+	11	1498	c.1301C>T	c.(1300-1302)cCg>cTg	p.P434L		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	434						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						gatgaagGACCGTACACACCA	0.488000														48			36		0	0	0.004878	0	0
POLDIP2	26073	broad.mit.edu	37	17	26684351	26684351	+	Missense_Mutation	SNP	C	T	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr17:26684351C>T	uc002haz.3	-	1	248	c.118G>A	c.(118-120)Gcg>Acg	p.A40T	POLDIP2_uc010wag.2_Non-coding_Transcript|TMEM199_uc002hba.3_5'Flank|TMEM199_uc010wah.1_5'Flank	NM_015584	NP_056399	Q9Y2S7	PDIP2_HUMAN	Homo sapiens polymerase (DNA-directed), delta interacting protein 2 (POLDIP2), mRNA.	42						mitochondrial nucleoid|nucleus						all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GTGGTCGACGCTGGCGAGAAG	0.736000														10			14		0	0	0.004990	0	0
ASB4	51666	broad.mit.edu	37	7	95125264	95125264	+	Missense_Mutation	SNP	G	A	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr7:95125264G>A	uc011kij.2	+	1	453	c.382G>A	c.(382-384)Gat>Aat	p.D128N	ASB4_uc003unx.3_Missense_Mutation_p.D128N	NM_016116	NP_057200	Q9Y574	ASB4_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 4 (ASB4), transcript variant 1, mRNA.	128					intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			GATCCTCTGTGATCGTGGGGC	0.458000														68			21		0	0	0.010504	0	0
ACAP2	23527	broad.mit.edu	37	3	195006526	195006526	+	Splice_Site	SNP	T	C	C			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr3:195006526T>C	uc003fun.4	-	22	2477	c.2236_splice	c.e22+1	p.G746_splice		NM_012287	NP_036419	Q15057	ACAP2_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 (ACAP2), mRNA.	746					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						AATATTGACCTGGCTGTCCAT	0.313000														43			7		0	0	0.006214	0	0
EGLN2	112398	broad.mit.edu	37	19	41306603	41306603	+	Nonsense_Mutation	SNP	T	A	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr19:41306603T>A	uc010ehd.3	+	7	1174	c.126T>A	c.(124-126)tgT>tgA	p.C42*	EGLN2_uc002opg.4_Nonsense_Mutation_p.C42*|EGLN2_uc002oph.3_Nonsense_Mutation_p.C42*|EGLN2_uc002opi.3_Nonsense_Mutation_p.C42*	NM_080732	NP_542770	Q96KS0	EGLN2_HUMAN	Homo sapiens egl nine homolog 2 (C. elegans) (EGLN2), transcript variant 3, mRNA.	42					cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia	cytoplasm|nucleus	L-ascorbic acid binding|ferrous iron binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	ACCTGCCCTGTCCCCTGCTCC	0.652000														27			13		0	0	0.002450	0	0
AGGF1	55109	broad.mit.edu	37	5	76344781	76344781	+	Missense_Mutation	SNP	C	A	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr5:76344781C>A	uc003ket.3	+	7	1716	c.1334C>A	c.(1333-1335)aCt>aAt	p.T445N		NM_018046	NP_060516	Q8N302	AGGF1_HUMAN	Homo sapiens angiogenic factor with G patch and FHA domains 1 (AGGF1), mRNA.	445	FHA.				RNA processing|angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		ATGGAACATACTCTCCGAATC	0.294000														75			66		1.2582e-26	3.0945e-26	0.014410	1	0
TRPC3	7222	broad.mit.edu	37	4	122853525	122853525	+	Silent	SNP	G	A	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr4:122853525G>A	uc003ieg.2	-	1	962	c.888C>T	c.(886-888)agC>agT	p.S296S	TRPC3_uc010inr.2_Silent_p.S223S|TRPC3_uc003ief.2_Silent_p.S223S|TRPC3_uc011cgl.1_5'UTR	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	211					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GGTAAGCCGGGCTGGCCAGCC	0.587000														18			10		0	0	0.006214	0	0
OR2Y1	134083	broad.mit.edu	37	5	180166694	180166694	+	Missense_Mutation	SNP	C	T	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr5:180166694C>T	uc003mmf.1	-	0	365	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Y, member 1 (OR2Y1), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCAGCATAGCGGTCAAAGGC	0.607000														21			11		0	0	0.008291	0	0
AGL	178	broad.mit.edu	37	1	100346675	100346675	+	Missense_Mutation	SNP	C	G	G			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr1:100346675C>G	uc001dsi.1	+	14	2343	c.1943C>G	c.(1942-1944)tCt>tGt	p.S648C	AGL_uc001dsj.1_Missense_Mutation_p.S648C|AGL_uc001dsk.1_Missense_Mutation_p.S648C|AGL_uc001dsl.1_Missense_Mutation_p.S648C|AGL_uc001dsm.1_Missense_Mutation_p.S632C|AGL_uc001dsn.1_Missense_Mutation_p.S631C	NM_000642	NP_000635	P35573	GDE_HUMAN	Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA.	648					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		ACAATTGTTTCTATGGCATGT	0.368000														41			38		0	0	0.006999	0	0
DIP2C	22982	broad.mit.edu	37	10	375449	375449	+	Missense_Mutation	SNP	A	T	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr10:375449A>T	uc001ifp.3	-	29	3767	c.3677T>A	c.(3676-3678)gTc>gAc	p.V1226D		NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	1226						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CGTGTCTCGGACTTTGTACTG	0.577000														27			21		0	0	0.012319	0	0
CACNA1B	774	broad.mit.edu	37	9	140943670	140943670	+	Silent	SNP	T	C	C			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr9:140943670T>C	uc004cog.3	+	23	3758	c.3613T>C	c.(3613-3615)Ttg>Ctg	p.L1205L	CACNA1B_uc022bqn.1_Silent_p.L1205L|CACNA1B_uc011mfd.2_Silent_p.L806L|CACNA1B_uc004coi.3_Silent_p.L415L	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1205					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GATGATCGACTTGGGACTGCT	0.527000														40			26		0	0	0.005443	0	0
CTAGE1	64693	broad.mit.edu	37	18	19997258	19997258	+	Missense_Mutation	SNP	G	A	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr18:19997258G>A	uc002ktv.1	-	0	621	c.517C>T	c.(517-519)Cgg>Tgg	p.R173W		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	173						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					ATCTCCAACCGTTCTTCATTC	0.388000														77			59		0	0	0.014410	0	0
FZD5	7855	broad.mit.edu	37	2	208632800	208632800	+	Missense_Mutation	SNP	A	G	G			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr2:208632800A>G	uc021vvr.1	-	0	664	c.664T>C	c.(664-666)Tgc>Cgc	p.C222R	FZD5_uc002vcj.3_Missense_Mutation_p.C222R	NM_003468	NP_003459	Q13467	FZD5_HUMAN	Homo sapiens frizzled family receptor 5 (FZD5), mRNA.	222					Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification|angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development	Golgi membrane|cell projection|cell surface|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding|protein kinase binding			NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		GGCTGGTAGCAGGGTACCGCG	0.632000														9			10		0	0	0.006214	0	0
PRRC2C	23215	broad.mit.edu	37	1	171535917	171535917	+	Missense_Mutation	SNP	G	A	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr1:171535917G>A	uc010pmg.2	+	21	6753	c.6487G>A	c.(6487-6489)Gaa>Aaa	p.E2163K	PRRC2C_uc010pmh.2_Missense_Mutation_p.E1140K|PRRC2C_uc010pmi.2_5'UTR	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	Homo sapiens proline-rich coiled-coil 2C (PRRC2C), mRNA.	2163							protein C-terminus binding										AGCAGTCTCAGAAATGTCTAC	0.448000														24			10		0	0	0.008291	0	0
ZNF142	7701	broad.mit.edu	37	2	219503380	219503380	+	Silent	SNP	G	T	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr2:219503380G>T	uc002vin.3	-	9	5182	c.4746C>A	c.(4744-4746)acC>acA	p.T1582T	ZNF142_uc002vil.3_Silent_p.T1543T|ZNF142_uc010fvt.3_Silent_p.T1419T|ZNF142_uc002vim.3_Silent_p.T1419T	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	1582					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGCGAAGGTGGGTGCGCAGCA	0.612000														35			9		2.17888e-05	5.01969e-05	0.006214	1	0
ADAM12	8038	broad.mit.edu	37	10	127789653	127789653	+	Missense_Mutation	SNP	G	A	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr10:127789653G>A	uc001ljk.2	-	8	1321	c.908C>T	c.(907-909)gCg>gTg	p.A303V	ADAM12_uc010qul.1_Missense_Mutation_p.A254V|ADAM12_uc001ljm.3_Missense_Mutation_p.A303V|ADAM12_uc001ljn.3_Missense_Mutation_p.A300V|ADAM12_uc001ljl.4_Missense_Mutation_p.A300V	NM_003474	NP_003465	O43184	ADA12_HUMAN	Homo sapiens ADAM metallopeptidase domain 12 (ADAM12), transcript variant 1, mRNA.	303	Peptidase M12B.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	SH3 domain binding|metalloendopeptidase activity|protein binding|zinc ion binding	p.A303V(4)|p.A303A(1)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GACAAGCTGCGCATTGTCATG	0.507000														46			5		0	0	0.001168	0	0
SEC62	7095	broad.mit.edu	37	3	169706125	169706125	+	Silent	SNP	C	T	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr3:169706125C>T	uc003fgg.3	+	6	739	c.708C>T	c.(706-708)gcC>gcT	p.A236A	SEC62_uc003fgh.3_Silent_p.A236A	NM_003262	NP_003253	Q99442	SEC62_HUMAN	Homo sapiens SEC62 homolog (S. cerevisiae) (SEC62), mRNA.	236					cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						GTTTTGTAGCCAGTATTCTTC	0.433000														110			42		0	0	0.010771	0	0
CAMKK1	84254	broad.mit.edu	37	17	3788622	3788622	+	Splice_Site	SNP	C	G	G			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr17:3788622C>G	uc002fwv.3	-	2	508	c.360_splice	c.e2+1	p.E120_splice	CAMKK1_uc002fwt.3_Splice_Site_p.E120_splice|CAMKK1_uc002fwu.3_Splice_Site_p.E120_splice	NM_172207	NP_757344	Q8N5S9	KKCC1_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase kinase 1, alpha (CAMKK1), transcript variant 3, mRNA.	120					synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		CCCCACCAACCTCTGCATCTG	0.622000														24			12		0	0	0.001855	0	0
KIAA0528	9847	broad.mit.edu	37	12	22623804	22623804	+	Silent	SNP	C	T	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr12:22623804C>T	uc010sit.2	-	21	2634	c.2406G>A	c.(2404-2406)caG>caA	p.Q802Q	KIAA0528_uc010sir.2_Silent_p.Q615Q|KIAA0528_uc010sis.2_Silent_p.Q800Q|KIAA0528_uc001rfq.3_Silent_p.Q800Q|KIAA0528_uc010siu.2_Silent_p.Q800Q|KIAA0528_uc001rfr.3_Silent_p.Q791Q	NM_014802	NP_055617	Q86YS7	K0528_HUMAN	Homo sapiens KIAA0528 (KIAA0528), mRNA.	800							protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TTTGTAAAGCCTGATTTTTGT	0.343000														51			20		0	0	0.012319	0	0
ZEB1	6935	broad.mit.edu	37	10	31812949	31812949	+	Missense_Mutation	SNP	G	T	T	rs35653460		TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr10:31812949G>T	uc001ivs.4	+	7	2753	c.2690G>T	c.(2689-2691)cGg>cTg	p.R897L	ZEB1_uc001ivr.4_Missense_Mutation_p.R679L|ZEB1_uc010qef.2_Missense_Mutation_p.R679L|ZEB1_uc009xlk.1_Missense_Mutation_p.R679L|ZEB1_uc001ivu.4_Missense_Mutation_p.R898L|ZEB1_uc010qeh.2_Missense_Mutation_p.R830L|ZEB1_uc001ivv.4_Missense_Mutation_p.R877L|ZEB1_uc001ivt.4_Missense_Mutation_p.R679L|ZEB1_uc009xlo.2_Missense_Mutation_p.R880L|ZEB1_uc009xlp.3_Missense_Mutation_p.R881L	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	897					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.R897Q(2)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAGAAAATGCGGAAGACAGAA	0.373000														78			47		4.10826e-27	1.02425e-26	0.014410	1	0
UNC13D	201294	broad.mit.edu	37	17	73831766	73831766	+	Silent	SNP	G	T	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr17:73831766G>T	uc002jpp.3	-	18	2069	c.1689C>A	c.(1687-1689)ctC>ctA	p.L563L	UNC13D_uc010wsk.1_Silent_p.L563L|UNC13D_uc002jpq.1_Silent_p.L213L	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	Homo sapiens unc-13 homolog D (C. elegans) (UNC13D), mRNA.	563	MHD1.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGAGCTCCTTGAGGCTGATGT	0.637000									Familial Hemophagocytic Lymphohistiocytosis					43			21		3.51602e-12	8.31058e-12	0.008871	1	0
ACTB	60	broad.mit.edu	37	7	5568236	5568236	+	Missense_Mutation	SNP	T	C	C			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr7:5568236T>C	uc003sot.4	-	3	562	c.478A>G	c.(478-480)Acc>Gcc	p.T160A	ACTB_uc003sor.4_Missense_Mutation_p.T38A|ACTB_uc003soq.4_Missense_Mutation_p.T38A	NM_001101	NP_001092	P60709	ACTB_HUMAN	Homo sapiens actin, beta (ACTB), mRNA.	160					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	MLL5-L complex|NuA4 histone acetyltransferase complex|cytoskeleton|cytosol|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		ACAGTGTGGGTGACCCCGTCA	0.607000														45			82		0	0	0.014410	0	0
SEC23IP	11196	broad.mit.edu	37	10	121692658	121692658	+	Missense_Mutation	SNP	T	C	C			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr10:121692658T>C	uc001leu.2	+	16	3110	c.2900T>C	c.(2899-2901)cTt>cCt	p.L967P	SEC23IP_uc010qtc.2_Missense_Mutation_p.L756P|SEC23IP_uc009xzk.2_Non-coding_Transcript	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN	Homo sapiens SEC23 interacting protein (SEC23IP), transcript variant 1, mRNA.	967	DDHD.				Golgi organization|intracellular protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment|endoplasmic reticulum	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		CTTTTCGCTCTTCAGAGTCAC	0.383000														66			52		0	0	0.014410	0	0
GTF3C5	9328	broad.mit.edu	37	9	135917680	135917680	+	Silent	SNP	T	A	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr9:135917680T>A	uc004ccj.4	+	1	697	c.360T>A	c.(358-360)atT>atA	p.I120I	GTF3C5_uc010mzz.2_Intron|GTF3C5_uc004cci.4_Silent_p.I120I	NM_001122823	NP_001116295	Q9Y5Q8	TF3C5_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 5, 63kDa (GTF3C5), transcript variant 1, mRNA.	120						transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		TCTCCACCATTTACAAATTTC	0.532000														51			30		0	0	0.009535	0	0
KIAA1407	57577	broad.mit.edu	37	3	113721375	113721375	+	Missense_Mutation	SNP	C	A	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr3:113721375C>A	uc003eax.3	-	11	2136	c.1989G>T	c.(1987-1989)gaG>gaT	p.E663D	KIAA1407_uc011bin.1_Non-coding_Transcript	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	Homo sapiens KIAA1407 (KIAA1407), mRNA.	663										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GAATTGCTCTCTCTTCCATAG	0.318000														60			27		4.15321e-07	1.03284e-06	0.009535	1	0
LMLN	89782	broad.mit.edu	37	3	197687145	197687145	+	Missense_Mutation	SNP	G	A	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr3:197687145G>A	uc010iar.3	+	0	75	c.53G>A	c.(52-54)gGt>gAt	p.G18D	IQCG_uc003fyp.3_5'Flank|LMLN_uc003fyt.3_Silent_p.G6G|LMLN_uc011buo.2_Missense_Mutation_p.G18D|LMLN_uc010ias.3_Silent_p.G6G|LMLN_uc003fyu.3_5'UTR	NM_001136049	NP_001129521	Q96KR4	LMLN_HUMAN	Homo sapiens leishmanolysin-like (metallopeptidase M8 family) (LMLN), transcript variant 1, mRNA.	18					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		GGAGGAGTGGGTTACTCGGGC	0.736000														42			10		0	0	0.008291	0	0
GTF3C5	9328	broad.mit.edu	37	9	135917679	135917679	+	Missense_Mutation	SNP	T	A	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr9:135917679T>A	uc004ccj.4	+	1	696	c.359T>A	c.(358-360)aTt>aAt	p.I120N	GTF3C5_uc010mzz.2_Intron|GTF3C5_uc004cci.4_Missense_Mutation_p.I120N	NM_001122823	NP_001116295	Q9Y5Q8	TF3C5_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 5, 63kDa (GTF3C5), transcript variant 1, mRNA.	120						transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		ATCTCCACCATTTACAAATTT	0.532000														52			31		0	0	0.010818	0	0
AGXT2L2	85007	broad.mit.edu	37	5	177642285	177642285	+	Silent	SNP	C	T	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr5:177642285C>T	uc003miz.3	-	8	1326	c.1074G>A	c.(1072-1074)ggG>ggA	p.G358G	AGXT2L2_uc003miy.3_Silent_p.G83G|AGXT2L2_uc003mjc.3_Silent_p.G317G|AGXT2L2_uc003mjb.3_Silent_p.G83G|AGXT2L2_uc003mja.3_Non-coding_Transcript|AGXT2L2_uc003mjd.1_Silent_p.G216G	NM_153373	NP_699204	Q8IUZ5	AT2L2_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase 2-like 2 (AGXT2L2), mRNA.	358						mitochondrion	pyridoxal phosphate binding|transaminase activity			breast(1)|endometrium(2)|large_intestine(1)|pancreas(1)|prostate(1)	6	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.181)|all cancers(165;0.235)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	ACCTGACATCCCCGACGATGG	0.567000														21			22		0	0	0.002780	0	0
PCDH12	51294	broad.mit.edu	37	5	141336615	141336615	+	Missense_Mutation	SNP	C	T	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr5:141336615C>T	uc003llx.3	-	0	2013	c.802G>A	c.(802-804)Gcc>Acc	p.A268T		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	Homo sapiens protocadherin 12 (PCDH12), mRNA.	268	Cadherin 3.				neuron recognition	integral to plasma membrane	calcium ion binding	p.A268T(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGTCTGTGGCGGTCAGTTTT	0.527000														54			34		0	0	0.012213	0	0
FBXW12	285231	broad.mit.edu	37	3	48436087	48436087	+	Missense_Mutation	SNP	A	G	G			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr3:48436087A>G	uc003csr.3	+	10	1544	c.1358A>G	c.(1357-1359)gAc>gGc	p.D453G	FBXW12_uc010hjv.3_Missense_Mutation_p.D434G|FBXW12_uc003css.3_Missense_Mutation_p.D383G|FBXW12_uc010hjw.3_Missense_Mutation_p.D352G	NM_207102	NP_996985	Q6X9E4	FBW12_HUMAN	Homo sapiens F-box and WD repeat domain containing 12 (FBXW12), transcript variant 1, mRNA.	453										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AAAGTAAGTGACTCCAGCATT	0.358000														110			47		0	0	0.014410	0	0
CHD7	55636	broad.mit.edu	37	8	61654762	61654762	+	Silent	SNP	T	C	C			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr8:61654762T>C	uc003xue.3	+	1	1263	c.771T>C	c.(769-771)caT>caC	p.H257H	CHD7_uc022aux.1_Silent_p.H257H	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	257					T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AGCAGTTCCATCACCACCCCT	0.582000														106			71		0	0	0.014410	0	0
DOCK1	1793	broad.mit.edu	37	10	128788791	128788791	+	Missense_Mutation	SNP	C	G	G			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr10:128788791C>G	uc010qun.2	+	5	461	c.397C>G	c.(397-399)Ctt>Gtt	p.L133V	DOCK1_uc001ljt.3_Missense_Mutation_p.L133V	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA.	133					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		ATCACAAATTCTTTCTGGAAC	0.393000														12			11		0	0	0.008291	0	0
KRTAP10-3	386682	broad.mit.edu	37	21	45978008	45978008	+	Silent	SNP	G	A	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr21:45978008G>A	uc002zfj.1	-	0	636	c.591C>T	c.(589-591)ctC>ctT	p.L197L	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198696	NP_941969	P60369	KR103_HUMAN	Homo sapiens keratin associated protein 10-3 (KRTAP10-3), mRNA.	197	18 X 5 AA repeats of C-C-X(3).					keratin filament				kidney(1)|lung(4)|prostate(1)|skin(1)	7						GGCGGCAGAGGAGGGACACGC	0.701000														11			12		0	0	0.003163	0	0
LGI4	163175	broad.mit.edu	37	19	35617247	35617247	+	Missense_Mutation	SNP	A	G	G			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr19:35617247A>G	uc002nxx.2	-	7	1820	c.1226T>C	c.(1225-1227)gTc>gCc	p.V409A	LGI4_uc002nxy.1_Missense_Mutation_p.V237A|LGI4_uc002nxz.1_Missense_Mutation_p.V237A	NM_139284	NP_644813	Q8N135	LGI4_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 4 (LGI4), mRNA.	409						extracellular region				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			TGTGGCATAGACATCCTCGGC	0.682000														18			14		0	0	0.004007	0	0
SPAG5	10615	broad.mit.edu	37	17	26919846	26919846	+	Missense_Mutation	SNP	T	C	C			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr17:26919846T>C	uc002hbq.3	-	2	508	c.416A>G	c.(415-417)cAg>cGg	p.Q139R	SPAG5_uc010waq.1_Intron	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN	Homo sapiens sperm associated antigen 5 (SPAG5), mRNA.	139					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					GTCTTGTTGCTGCCCCAGTGG	0.453000														85			121		0	0	0.014410	0	0
LRRC49	54839	broad.mit.edu	37	15	71341790	71341790	+	Missense_Mutation	SNP	G	A	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr15:71341790G>A	uc010ukf.2	+	15	2221	c.1915G>A	c.(1915-1917)Gac>Aac	p.D639N	LRRC49_uc002asu.3_Missense_Mutation_p.D624N|LRRC49_uc002asx.3_Missense_Mutation_p.D590N|LRRC49_uc002asw.3_Missense_Mutation_p.D634N|LRRC49_uc002asy.3_Missense_Mutation_p.D340N|LRRC49_uc002asz.3_Missense_Mutation_p.D606N	NM_001199017	NP_001185946	Q8IUZ0	LRC49_HUMAN	Homo sapiens leucine rich repeat containing 49 (LRRC49), transcript variant 1, mRNA.	634						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						ATATATAGAAGACCTTGTGAA	0.333000														66			38		0	0	0.004289	0	0
UNC50	25972	broad.mit.edu	37	2	99232895	99232895	+	Splice_Site	SNP	A	T	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr2:99232895A>T	uc010yvl.2	+	5	827	c.593_splice	c.e5-1	p.H198_splice	UNC50_uc002szc.4_Splice_Site_p.H181_splice|UNC50_uc002szb.3_Splice_Site_p.H181_splice	NM_014044	NP_054763	Q53HI1	UNC50_HUMAN	Homo sapiens unc-50 homolog (C. elegans) (UNC50), mRNA.	181					protein transport	Golgi membrane|integral to membrane|nuclear inner membrane	RNA binding			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						CTTCTGGCAGATGTTATCCTG	0.373000														56			42		0	0	0.006999	0	0
KCTD20	222658	broad.mit.edu	37	6	36454734	36454734	+	Missense_Mutation	SNP	C	T	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr6:36454734C>T	uc003ome.3	+	7	1433	c.1042C>T	c.(1042-1044)Cgc>Tgc	p.R348C	KCTD20_uc011dtn.2_Missense_Mutation_p.R102C|KCTD20_uc010jwk.3_Missense_Mutation_p.R182C|KCTD20_uc011dto.2_Missense_Mutation_p.R102C|KCTD20_uc011dtm.2_Missense_Mutation_p.R203C	NM_173562	NP_775833	Q7Z5Y7	KCD20_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 20 (KCTD20), mRNA.	348						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						TTATGTACAACGCCCCTTCAT	0.463000														67			41		0	0	0.006999	0	0
ANKRD44	91526	broad.mit.edu	37	2	197986231	197986231	+	Missense_Mutation	SNP	T	C	C			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr2:197986231T>C	uc021vuj.1	-	7	924	c.731A>G	c.(730-732)cAc>cGc	p.H244R	ANKRD44_uc002utz.4_5'UTR|ANKRD44_uc021vuk.1_Missense_Mutation_p.H219R|ANKRD44_uc002uub.3_Missense_Mutation_p.H244R|ANKRD44_uc010zgw.2_Missense_Mutation_p.H172R|ANKRD44_uc002uuc.3_Missense_Mutation_p.H244R	NM_001195144	NP_001182073	Q8N8A2	ANR44_HUMAN	Homo sapiens ankyrin repeat domain 44 (ANKRD44), transcript variant A, mRNA.	244							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GCAGGCGATGTGAAGCGCTGT	0.433000														23			14		0	0	0.004990	0	0
POLQ	10721	broad.mit.edu	37	3	121217327	121217327	+	Missense_Mutation	SNP	T	G	G			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr3:121217327T>G	uc003eee.4	-	12	2279	c.2150A>C	c.(2149-2151)aAa>aCa	p.K717T		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	717					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CGTTTACCTTTTATGGATGGC	0.453000								DNA polymerases (catalytic subunits)						78			99		0	0	0.014410	0	0
MRS2	57380	broad.mit.edu	37	6	24418322	24418322	+	Missense_Mutation	SNP	A	T	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr6:24418322A>T	uc011djl.2	+	8	978	c.856A>T	c.(856-858)Agt>Tgt	p.S286C	MRS2_uc003nea.3_Missense_Mutation_p.S283C|MRS2_uc003neb.3_Missense_Mutation_p.S283C|MRS2_uc011djm.2_Non-coding_Transcript|MRS2_uc011djn.2_Missense_Mutation_p.S233C	NM_020662	NP_065713	Q9HD23	MRS2_HUMAN	Homo sapiens MRS2 magnesium homeostasis factor homolog (S. cerevisiae) (MRS2), mRNA.	283					ion transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						TGAAAAGAGCAGTGCTGGGAT	0.388000														45			37		0	0	0.004878	0	0
FAT1	2195	broad.mit.edu	37	4	187530418	187530418	+	Silent	SNP	T	A	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr4:187530418T>A	uc003izf.3	-	15	10313	c.10125A>T	c.(10123-10125)atA>atT	p.I3375I		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	3375	Cadherin 31.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GGTTGCCATCTATAATTGAGT	0.478000										HNSCC(5;0.00058)				41			30		0	0	0.007291	0	0
TDP1	55775	broad.mit.edu	37	14	90429932	90429932	+	Silent	SNP	G	A	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr14:90429932G>A	uc001xxy.3	+	2	773	c.474G>A	c.(472-474)ctG>ctA	p.L158L	TDP1_uc010atm.3_Non-coding_Transcript|TDP1_uc001xxz.3_Silent_p.L158L|TDP1_uc010atn.3_Silent_p.L158L|TDP1_uc001xya.3_5'UTR|TDP1_uc001xyb.3_Non-coding_Transcript	NM_018319	NP_060789	Q9NUW8	TYDP1_HUMAN	Homo sapiens tyrosyl-DNA phosphodiesterase 1 (TDP1), transcript variant 1, mRNA.	158					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		GGGACATGCTGGATAAAGGGA	0.512000								Repair of DNA-protein crosslinks						59			44		0	0	0.011902	0	0
TRPC3	7222	broad.mit.edu	37	4	122853525	122853525	+	Silent	SNP	G	A	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr4:122853525G>A	uc003ieg.2	-	1	962	c.888C>T	c.(886-888)agC>agT	p.S296S	TRPC3_uc010inr.2_Silent_p.S223S|TRPC3_uc003ief.2_Silent_p.S223S|TRPC3_uc011cgl.1_5'UTR	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	211					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GGTAAGCCGGGCTGGCCAGCC	0.587000														18			10		0	0	0.006214	0	0
C7orf26	79034	broad.mit.edu	37	7	6639834	6639834	+	Missense_Mutation	SNP	T	G	G			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr7:6639834T>G	uc003sqo.1	+	3	955	c.955T>G	c.(955-957)Ttc>Gtc	p.F319V	C7orf26_uc003sqp.1_Missense_Mutation_p.F222V	NM_024067	NP_076972	Q96N11	CG026_HUMAN	Homo sapiens chromosome 7 open reading frame 26 (C7orf26), mRNA.	319										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		GCTGATCCTCTTCGACCACAT	0.582000														11			23		0	0	0.003330	0	0
FSCB	84075	broad.mit.edu	37	14	44975261	44975261	+	Silent	SNP	C	T	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr14:44975261C>T	uc001wvn.3	-	0	1239	c.930G>A	c.(928-930)gcG>gcA	p.A310A		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.	310						cilium		p.A310V(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CAGAATTCTCCGCAACTGCAG	0.527000														44			35		0	0	0.003271	0	0
C16orf86	388284	broad.mit.edu	37	16	67702137	67702137	+	Nonsense_Mutation	SNP	C	G	G			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr16:67702137C>G	uc002ety.3	+	3	745	c.588C>G	c.(586-588)taC>taG	p.Y196*	C16orf48_uc002etw.1_5'Flank|C16orf86_uc002etx.1_3'UTR|C16orf86_uc002etz.3_Non-coding_Transcript	NM_001012984	NP_001013002	Q6ZW13	CP086_HUMAN	Homo sapiens chromosome 16 open reading frame 86 (C16orf86), mRNA.	196								p.Q195*(1)		endometrium(2)|lung(4)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		TGTACCAGTACGTCAACTATT	0.667000											OREG0023886	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		14			18		0	0	0.004990	0	0
CEL	1056	broad.mit.edu	37	9	135941956	135941956	+	Missense_Mutation	SNP	G	T	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr9:135941956G>T	uc010naa.1	+	4	603	c.587G>T	c.(586-588)tGg>tTg	p.W196L		NM_001807	NP_001798	P19835	CEL_HUMAN	Homo sapiens carboxyl ester lipase (bile salt-stimulated lipase) (CEL), mRNA.	193					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GCCATTGCTTGGGTGAAGAGG	0.642000														118			9		0.000274275	0.000656177	0.004482	1	0
SLC13A2	9058	broad.mit.edu	37	17	26818545	26818545	+	Missense_Mutation	SNP	G	A	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr17:26818545G>A	uc010wan.2	+	4	879	c.812G>A	c.(811-813)aGc>aAc	p.S271N	SLC13A2_uc010wal.1_Missense_Mutation_p.S179N|SLC13A2_uc010wam.2_Missense_Mutation_p.S178N|SLC13A2_uc002hbh.3_Missense_Mutation_p.S222N|SLC13A2_uc010wao.2_Missense_Mutation_p.S179N|SLC13A2_uc002hbi.3_Missense_Mutation_p.S151N	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA.	222						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CAGTGCATGAGCCTGTGCGTG	0.617000														89			40		0	0	0.009718	0	0
GOLGA6L5	374650	broad.mit.edu	37	15	85056021	85056021	+	RNA	SNP	T	C	C	rs1062001		TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr15:85056021T>C	uc002bkm.2	-	5		c.539A>G								Homo sapiens golgin A6 family-like 5 (pseudogene) (GOLGA6L5), non-coding RNA.																		GTAGCTGCTCTACCTTAGATG	0.502000														17			3		0	0	0.004672	0	0
POLDIP2	26073	broad.mit.edu	37	17	26684350	26684350	+	Missense_Mutation	SNP	G	A	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr17:26684350G>A	uc002haz.3	-	1	249	c.119C>T	c.(118-120)gCg>gTg	p.A40V	POLDIP2_uc010wag.2_Non-coding_Transcript|TMEM199_uc002hba.3_5'Flank|TMEM199_uc010wah.1_5'Flank	NM_015584	NP_056399	Q9Y2S7	PDIP2_HUMAN	Homo sapiens polymerase (DNA-directed), delta interacting protein 2 (POLDIP2), mRNA.	42						mitochondrial nucleoid|nucleus						all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		CGTGGTCGACGCTGGCGAGAA	0.736000														10			14		0	0	0.004990	0	0
OR56A1	120796	broad.mit.edu	37	11	6048449	6048449	+	Silent	SNP	A	G	G			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr11:6048449A>G	uc010qzw.2	-	0	523	c.486T>C	c.(484-486)ctT>ctC	p.L162L		NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 1 (OR56A1), mRNA.	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L161F(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGTGCAGTAAGAAGCGCAT	0.498000														52			43		0	0	0.014410	0	0
SLK	9748	broad.mit.edu	37	10	105763115	105763115	+	Missense_Mutation	SNP	G	A	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr10:105763115G>A	uc001kxo.1	+	8	2213	c.2179G>A	c.(2179-2181)Ggt>Agt	p.G727S	SLK_uc001kxp.1_Missense_Mutation_p.G727S	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	Homo sapiens STE20-like kinase (SLK), mRNA.	727					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AGAAGAAATAGGTTCTTTATC	0.393000														34			28		0	0	0.005443	0	0
MLLT4	4301	broad.mit.edu	37	6	168344092	168344092	+	Missense_Mutation	SNP	T	A	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr6:168344092T>A	uc021zik.1	+	23	3351	c.3032T>A	c.(3031-3033)cTa>cAa	p.L1011Q	MLLT4_uc003qwb.1_Missense_Mutation_p.L1036Q|MLLT4_uc003qwc.2_Missense_Mutation_p.L1052Q|MLLT4_uc021zij.1_Missense_Mutation_p.L1035Q|MLLT4_uc021zim.1_Missense_Mutation_p.L598Q|MLLT4_uc003qwg.1_Missense_Mutation_p.L361Q	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	1052	PDZ.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GATGGACGTCTAGCTGCAGGT	0.458000			T	MLL	AL									107			83		0	0	0.014410	0	0
AGT	183	broad.mit.edu	37	1	230841797	230841797	+	Missense_Mutation	SNP	A	T	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr1:230841797A>T	uc001hty.4	-	2	1514	c.1006T>A	c.(1006-1008)Ttc>Atc	p.F336I	AGT_uc009xff.3_Missense_Mutation_p.F308I	NM_000029	NP_000020	P01019	ANGT_HUMAN	Homo sapiens angiotensinogen (serpin peptidase inhibitor, clade A, member 8) (AGT), mRNA.	336					G-protein signaling, coupled to cGMP nucleotide second messenger|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	CTCTCAGTGAAGGGCACTTGA	0.562000														61			45		0	0	0.014410	0	0
LRRC49	54839	broad.mit.edu	37	15	71341787	71341787	+	Missense_Mutation	SNP	G	A	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr15:71341787G>A	uc010ukf.2	+	15	2218	c.1912G>A	c.(1912-1914)Gaa>Aaa	p.E638K	LRRC49_uc002asu.3_Missense_Mutation_p.E623K|LRRC49_uc002asx.3_Missense_Mutation_p.E589K|LRRC49_uc002asw.3_Missense_Mutation_p.E633K|LRRC49_uc002asy.3_Missense_Mutation_p.E339K|LRRC49_uc002asz.3_Missense_Mutation_p.E605K	NM_001199017	NP_001185946	Q8IUZ0	LRC49_HUMAN	Homo sapiens leucine rich repeat containing 49 (LRRC49), transcript variant 1, mRNA.	633						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						AACATATATAGAAGACCTTGT	0.333000														67			35		0	0	0.013726	0	0
SRRM2	23524	broad.mit.edu	37	16	2814253	2814253	+	Missense_Mutation	SNP	G	A	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr16:2814253G>A	uc002crk.3	+	10	4273	c.3724G>A	c.(3724-3726)Gta>Ata	p.V1242I	SRRM2_uc002crj.1_Missense_Mutation_p.V1146I|SRRM2_uc002crl.1_Missense_Mutation_p.V1242I|SRRM2_uc010bsu.1_Missense_Mutation_p.V1146I	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	1242	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AATGGAGGTGGTAGAGAAGTC	0.443000														196			61		0	0	0.014410	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47641990	47641990	+	Silent	SNP	C	T	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr20:47641990C>T	uc002xtx.4	+	35	5048	c.4896C>T	c.(4894-4896)taC>taT	p.Y1632Y	ARFGEF2_uc010zyf.2_Silent_p.Y925Y	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	1632					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	Golgi membrane|cytosol	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			ACTCCAATTACGAGCAGCGGA	0.473000														29			20		0	0	0.012319	0	0
PCIF1	63935	broad.mit.edu	37	20	44574469	44574469	+	Missense_Mutation	SNP	A	C	C			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr20:44574469A>C	uc002xqs.3	+	11	1602	c.1288A>C	c.(1288-1290)Atc>Ctc	p.I430L	PCIF1_uc002xqt.3_Missense_Mutation_p.I10L	NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN	Homo sapiens PDX1 C-terminal inhibiting factor 1 (PCIF1), mRNA.	430						nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						CGTGGTCTGCATCCGGTATAA	0.602000														78			41		0	0	0.014410	0	0
NRCAM	4897	broad.mit.edu	37	7	107808822	107808822	+	Silent	SNP	G	A	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr7:107808822G>A	uc022aka.1	-	25	3319	c.3213C>T	c.(3211-3213)agC>agT	p.S1071S	NRCAM_uc011kmk.2_Intron|NRCAM_uc003vfd.3_Intron|NRCAM_uc003vfe.3_Intron|NRCAM_uc003vfc.3_Intron|NRCAM_uc011kmj.2_Intron	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	Homo sapiens neuronal cell adhesion molecule (NRCAM), transcript variant 1, mRNA.	1071	Fibronectin type-III 5.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CAGTAAGATTGCTGATCCTGG	0.363000														47			24		0	0	0.003330	0	0
ITGB7	3695	broad.mit.edu	37	12	53586547	53586547	+	Missense_Mutation	SNP	T	C	C			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr12:53586547T>C	uc009zmv.3	-	11	1945	c.1874A>G	c.(1873-1875)cAg>cGg	p.Q625R	ITGB7_uc001scc.3_Missense_Mutation_p.Q625R|ITGB7_uc010snz.2_Intron	NM_000889	NP_000880	P26010	ITB7_HUMAN	Homo sapiens integrin, beta 7 (ITGB7), mRNA.	625	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTCCAAGCACTGGCAGCGGTT	0.597000														36			51		0	0	0.014410	0	0
ZNF232	7775	broad.mit.edu	37	17	5009512	5009512	+	Silent	SNP	A	G	G			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr17:5009512A>G	uc002gat.3	-	4	1597	c.942T>C	c.(940-942)taT>taC	p.Y314Y	ZNF232_uc002gar.1_Silent_p.Y305Y	NM_014519	NP_055334	Q9UNY5	ZN232_HUMAN	Homo sapiens zinc finger protein 232 (ZNF232), mRNA.	287					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						GATGTGAGTTATAAATGAAGG	0.428000														124			42		0	0	0.008740	0	0
PUM2	23369	broad.mit.edu	37	2	20518349	20518349	+	Missense_Mutation	SNP	C	T	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr2:20518349C>T	uc002rds.1	-	1	127	c.109G>A	c.(109-111)Ggc>Agc	p.G37S	PUM2_uc002rdt.1_Missense_Mutation_p.G37S|PUM2_uc002rdr.2_5'UTR|PUM2_uc010yjy.1_Missense_Mutation_p.G37S|PUM2_uc002rdu.1_Missense_Mutation_p.G37S|PUM2_uc010yjz.1_Intron	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	Homo sapiens pumilio homolog 2 (Drosophila) (PUM2), mRNA.	37	Interaction with SNAPIN.				regulation of translation	perinuclear region of cytoplasm|stress granule	RNA binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAAATATGCCTTTTTGTCCA	0.338000														41			25		0	0	0.010818	0	0
ZNF20	7568	broad.mit.edu	37	19	12246707	12246707	+	Missense_Mutation	SNP	A	C	C			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr19:12246707A>C	uc002mtg.2	-	5	598	c.16T>G	c.(16-18)Tca>Gca	p.S6A	ZNF20_uc002mte.2_5'UTR|ZNF20_uc002mtf.2_Missense_Mutation_p.S6A|ZNF20_uc021upm.1_Missense_Mutation_p.S3A	NM_021143	NP_066966	P17024	ZNF20_HUMAN	Homo sapiens zinc finger protein 20 (ZNF20), transcript variant 1, mRNA.	6					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|lung(6)	8						AAGGCCACTGAATCCTGAAAC	0.468000														38			32		0	0	0.012213	0	0
ZNF546	339327	broad.mit.edu	37	19	40520846	40520846	+	Missense_Mutation	SNP	G	A	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr19:40520846G>A	uc002oms.2	+	6	1925	c.1669G>A	c.(1669-1671)Gaa>Aaa	p.E557K	ZNF546_uc002omt.2_Missense_Mutation_p.E531K	NM_178544	NP_848639	Q86UE3	ZN546_HUMAN	Homo sapiens zinc finger protein 546 (ZNF546), mRNA.	557					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGAATGTAAGGAATGTGGGAA	0.388000														31			40		0	0	0.005524	0	0
CPNE7	27132	broad.mit.edu	37	16	89662976	89662976	+	Missense_Mutation	SNP	C	A	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr16:89662976C>A	uc002fnp.3	+	16	1979	c.1849C>A	c.(1849-1851)Ccg>Acg	p.P617T	CPNE7_uc002fnq.3_Missense_Mutation_p.P542T	NM_014427	NP_055242	Q9UBL6	CPNE7_HUMAN	Homo sapiens copine VII (CPNE7), transcript variant 2, mRNA.	617					lipid metabolic process		transporter activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		AGGCCTGCCCCCGAGAAGCCT	0.667000														81			8		0.000157383	0.000381352	0.003080	1	0
ULBP1	80329	broad.mit.edu	37	6	150289835	150289835	+	Missense_Mutation	SNP	C	A	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr6:150289835C>A	uc003qnp.3	+	1	221	c.178C>A	c.(178-180)Cct>Act	p.P60T		NM_025218	NP_079494	Q9BZM6	N2DL1_HUMAN	Homo sapiens UL16 binding protein 1 (ULBP1), mRNA.	60	MHC class I alpha-1 like.				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	MHC class I protein complex|anchored to membrane|endoplasmic reticulum	MHC class I receptor activity			large_intestine(3)|lung(5)|pancreas(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		GGATGAAAGGCCTTTTCTTCA	0.453000														86			74		7.81431e-29	2.10986e-28	0.014410	1	0
TET2	54790	broad.mit.edu	37	4	106157461	106157461	+	Nonsense_Mutation	SNP	G	T	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr4:106157461G>T	uc011cez.2	+	2	2830	c.2425G>T	c.(2425-2427)Gaa>Taa	p.E809*	TET2_uc003hxk.3_Nonsense_Mutation_p.E788*|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_Nonsense_Mutation_p.E788*|TET2_uc010ilp.2_Nonsense_Mutation_p.E788*|TET2_uc021xql.1_Nonsense_Mutation_p.E788*	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA.	788	Gln-rich.				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.E808fs*5(1)|p.E788K(1)|p.E788*(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TTTTCATGGTGAAAATCAGTA	0.393000			"""Mis N, F"""		MDS									21			22		1.55795e-14	3.97908e-14	0.012319	1	0
TSPYL2	64061	broad.mit.edu	37	X	53111965	53111965	+	Silent	SNP	C	G	G			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chrX:53111965C>G	uc004drw.3	+	0	424	c.285C>G	c.(283-285)ccC>ccG	p.P95P	TSPYL2_uc004drv.3_Silent_p.P95P|TSPYL2_uc004drx.1_5'Flank	NM_022117	NP_071400	Q9H2G4	TSYL2_HUMAN	Homo sapiens TSPY-like 2 (TSPYL2), mRNA.	95					cell cycle|chromatin modification|negative regulation of DNA replication|negative regulation of cell cycle|negative regulation of cell growth|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						CTGAGTGTCCCGGCTGGGATT	0.711000														1			4		0	0	0.009096	0	0
SCARF1	8578	broad.mit.edu	37	17	1538231	1538231	+	Missense_Mutation	SNP	T	C	C			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr17:1538231T>C	uc002fsz.1	-	10	2364	c.2314A>G	c.(2314-2316)Aga>Gga	p.R772G	SCARF1_uc002fsy.1_3'UTR|SCARF1_uc002fta.1_Non-coding_Transcript|SCARF1_uc010cjv.1_Missense_Mutation_p.R686G	NM_003693	NP_003684	Q14162	SREC_HUMAN	Homo sapiens scavenger receptor class F, member 1 (SCARF1), transcript variant 1, mRNA.	772	Gly-rich.				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TCCTCTGGTCTGACTGCCATA	0.657000														33			44		0	0	0.009718	0	0
SLC24A3	57419	broad.mit.edu	37	20	19665982	19665982	+	Missense_Mutation	SNP	C	T	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr20:19665982C>T	uc002wrl.3	+	11	1498	c.1301C>T	c.(1300-1302)cCg>cTg	p.P434L		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	434						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						gatgaagGACCGTACACACCA	0.488000														48			36		0	0	0.004878	0	0
POLDIP2	26073	broad.mit.edu	37	17	26684351	26684351	+	Missense_Mutation	SNP	C	T	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr17:26684351C>T	uc002haz.3	-	1	248	c.118G>A	c.(118-120)Gcg>Acg	p.A40T	POLDIP2_uc010wag.2_Non-coding_Transcript|TMEM199_uc002hba.3_5'Flank|TMEM199_uc010wah.1_5'Flank	NM_015584	NP_056399	Q9Y2S7	PDIP2_HUMAN	Homo sapiens polymerase (DNA-directed), delta interacting protein 2 (POLDIP2), mRNA.	42						mitochondrial nucleoid|nucleus						all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GTGGTCGACGCTGGCGAGAAG	0.736000														10			14		0	0	0.004990	0	0
ASB4	51666	broad.mit.edu	37	7	95125264	95125264	+	Missense_Mutation	SNP	G	A	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr7:95125264G>A	uc011kij.2	+	1	453	c.382G>A	c.(382-384)Gat>Aat	p.D128N	ASB4_uc003unx.3_Missense_Mutation_p.D128N	NM_016116	NP_057200	Q9Y574	ASB4_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 4 (ASB4), transcript variant 1, mRNA.	128					intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			GATCCTCTGTGATCGTGGGGC	0.458000														68			21		0	0	0.010504	0	0
ACAP2	23527	broad.mit.edu	37	3	195006526	195006526	+	Splice_Site	SNP	T	C	C			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr3:195006526T>C	uc003fun.4	-	22	2477	c.2236_splice	c.e22+1	p.G746_splice		NM_012287	NP_036419	Q15057	ACAP2_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 (ACAP2), mRNA.	746					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						AATATTGACCTGGCTGTCCAT	0.313000														43			7		0	0	0.006214	0	0
EGLN2	112398	broad.mit.edu	37	19	41306603	41306603	+	Nonsense_Mutation	SNP	T	A	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr19:41306603T>A	uc010ehd.3	+	7	1174	c.126T>A	c.(124-126)tgT>tgA	p.C42*	EGLN2_uc002opg.4_Nonsense_Mutation_p.C42*|EGLN2_uc002oph.3_Nonsense_Mutation_p.C42*|EGLN2_uc002opi.3_Nonsense_Mutation_p.C42*	NM_080732	NP_542770	Q96KS0	EGLN2_HUMAN	Homo sapiens egl nine homolog 2 (C. elegans) (EGLN2), transcript variant 3, mRNA.	42					cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia	cytoplasm|nucleus	L-ascorbic acid binding|ferrous iron binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	ACCTGCCCTGTCCCCTGCTCC	0.652000														27			13		0	0	0.002450	0	0
AGGF1	55109	broad.mit.edu	37	5	76344781	76344781	+	Missense_Mutation	SNP	C	A	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr5:76344781C>A	uc003ket.3	+	7	1716	c.1334C>A	c.(1333-1335)aCt>aAt	p.T445N		NM_018046	NP_060516	Q8N302	AGGF1_HUMAN	Homo sapiens angiogenic factor with G patch and FHA domains 1 (AGGF1), mRNA.	445	FHA.				RNA processing|angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		ATGGAACATACTCTCCGAATC	0.294000														75			66		1.2582e-26	3.30278e-26	0.014410	1	0
OR2Y1	134083	broad.mit.edu	37	5	180166694	180166694	+	Missense_Mutation	SNP	C	T	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr5:180166694C>T	uc003mmf.1	-	0	365	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Y, member 1 (OR2Y1), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCAGCATAGCGGTCAAAGGC	0.607000														21			11		0	0	0.008291	0	0
AGL	178	broad.mit.edu	37	1	100346675	100346675	+	Missense_Mutation	SNP	C	G	G			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr1:100346675C>G	uc001dsi.1	+	14	2343	c.1943C>G	c.(1942-1944)tCt>tGt	p.S648C	AGL_uc001dsj.1_Missense_Mutation_p.S648C|AGL_uc001dsk.1_Missense_Mutation_p.S648C|AGL_uc001dsl.1_Missense_Mutation_p.S648C|AGL_uc001dsm.1_Missense_Mutation_p.S632C|AGL_uc001dsn.1_Missense_Mutation_p.S631C	NM_000642	NP_000635	P35573	GDE_HUMAN	Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA.	648					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		ACAATTGTTTCTATGGCATGT	0.368000														41			38		0	0	0.006999	0	0
DIP2C	22982	broad.mit.edu	37	10	375449	375449	+	Missense_Mutation	SNP	A	T	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr10:375449A>T	uc001ifp.3	-	29	3767	c.3677T>A	c.(3676-3678)gTc>gAc	p.V1226D		NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	1226						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CGTGTCTCGGACTTTGTACTG	0.577000														27			21		0	0	0.012319	0	0
CACNA1B	774	broad.mit.edu	37	9	140943670	140943670	+	Silent	SNP	T	C	C			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr9:140943670T>C	uc004cog.3	+	23	3758	c.3613T>C	c.(3613-3615)Ttg>Ctg	p.L1205L	CACNA1B_uc022bqn.1_Silent_p.L1205L|CACNA1B_uc011mfd.2_Silent_p.L806L|CACNA1B_uc004coi.3_Silent_p.L415L	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1205					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GATGATCGACTTGGGACTGCT	0.527000														40			26		0	0	0.005443	0	0
CTAGE1	64693	broad.mit.edu	37	18	19997258	19997258	+	Missense_Mutation	SNP	G	A	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr18:19997258G>A	uc002ktv.1	-	0	621	c.517C>T	c.(517-519)Cgg>Tgg	p.R173W		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	173						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					ATCTCCAACCGTTCTTCATTC	0.388000														77			59		0	0	0.014410	0	0
FZD5	7855	broad.mit.edu	37	2	208632800	208632800	+	Missense_Mutation	SNP	A	G	G			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr2:208632800A>G	uc021vvr.1	-	0	664	c.664T>C	c.(664-666)Tgc>Cgc	p.C222R	FZD5_uc002vcj.3_Missense_Mutation_p.C222R	NM_003468	NP_003459	Q13467	FZD5_HUMAN	Homo sapiens frizzled family receptor 5 (FZD5), mRNA.	222					Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification|angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development	Golgi membrane|cell projection|cell surface|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding|protein kinase binding			NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		GGCTGGTAGCAGGGTACCGCG	0.632000														9			10		0	0	0.006214	0	0
PRRC2C	23215	broad.mit.edu	37	1	171535917	171535917	+	Missense_Mutation	SNP	G	A	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr1:171535917G>A	uc010pmg.2	+	21	6753	c.6487G>A	c.(6487-6489)Gaa>Aaa	p.E2163K	PRRC2C_uc010pmh.2_Missense_Mutation_p.E1140K|PRRC2C_uc010pmi.2_5'UTR	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	Homo sapiens proline-rich coiled-coil 2C (PRRC2C), mRNA.	2163							protein C-terminus binding										AGCAGTCTCAGAAATGTCTAC	0.448000														24			10		0	0	0.008291	0	0
ZNF142	7701	broad.mit.edu	37	2	219503380	219503380	+	Silent	SNP	G	T	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr2:219503380G>T	uc002vin.3	-	9	5182	c.4746C>A	c.(4744-4746)acC>acA	p.T1582T	ZNF142_uc002vil.3_Silent_p.T1543T|ZNF142_uc010fvt.3_Silent_p.T1419T|ZNF142_uc002vim.3_Silent_p.T1419T	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	1582					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGCGAAGGTGGGTGCGCAGCA	0.612000														35			9		2.17888e-05	5.34815e-05	0.006214	1	0
PTPRD	5789	broad.mit.edu	37	9	8460558	8460558	+	Missense_Mutation	SNP	G	T	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr9:8460558G>T	uc003zkk.3	-	32	4471	c.3728C>A	c.(3727-3729)aCc>aAc	p.T1243N	PTPRD_uc003zkp.3_Missense_Mutation_p.T832N|PTPRD_uc003zkq.3_Missense_Mutation_p.T832N|PTPRD_uc003zkr.3_Missense_Mutation_p.T827N|PTPRD_uc003zks.3_Missense_Mutation_p.T822N|PTPRD_uc022bdj.1_Missense_Mutation_p.T829N	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1243					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GTAAGGGCTGGTTGCATACAT	0.433000										TSP Lung(15;0.13)				42			30		3.86903e-22	1.00171e-21	0.013726	1	0
GSTT1	2952	broad.mit.edu	37	22	24376512	24376512	+	Missense_Mutation	SNP	C	T	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr22:24376512C>T	uc002zze.4	-	4	687	c.634G>A	c.(634-636)Gag>Aag	p.E212K	GSTT1_uc010gug.3_Non-coding_Transcript|GSTT1_uc011ajl.2_Missense_Mutation_p.E94K|GSTT1_uc010guh.3_Non-coding_Transcript	NM_000853	NP_000844	P30711	GSTT1_HUMAN	Homo sapiens glutathione S-transferase theta 1 (GSTT1), mRNA.	212	GST C-terminal.				glutathione metabolic process	cytosol|soluble fraction	glutathione peroxidase activity|glutathione transferase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6					Glutathione(DB00143)	AGAATGACCTCATGGGCCTCC	0.632000									Myelodysplasia and Acute Myeloid Leukemia (AML), Familial					65			6		0	0	0.001984	0	0
ADAM12	8038	broad.mit.edu	37	10	127789653	127789653	+	Missense_Mutation	SNP	G	A	A			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr10:127789653G>A	uc001ljk.2	-	8	1321	c.908C>T	c.(907-909)gCg>gTg	p.A303V	ADAM12_uc010qul.1_Missense_Mutation_p.A254V|ADAM12_uc001ljm.3_Missense_Mutation_p.A303V|ADAM12_uc001ljn.3_Missense_Mutation_p.A300V|ADAM12_uc001ljl.4_Missense_Mutation_p.A300V	NM_003474	NP_003465	O43184	ADA12_HUMAN	Homo sapiens ADAM metallopeptidase domain 12 (ADAM12), transcript variant 1, mRNA.	303	Peptidase M12B.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	SH3 domain binding|metalloendopeptidase activity|protein binding|zinc ion binding	p.A303V(4)|p.A303A(1)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GACAAGCTGCGCATTGTCATG	0.507000														46			5		0	0	0.001168	0	0
SEC62	7095	broad.mit.edu	37	3	169706125	169706125	+	Silent	SNP	C	T	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr3:169706125C>T	uc003fgg.3	+	6	739	c.708C>T	c.(706-708)gcC>gcT	p.A236A	SEC62_uc003fgh.3_Silent_p.A236A	NM_003262	NP_003253	Q99442	SEC62_HUMAN	Homo sapiens SEC62 homolog (S. cerevisiae) (SEC62), mRNA.	236					cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						GTTTTGTAGCCAGTATTCTTC	0.433000														110			42		0	0	0.010771	0	0
CAMKK1	84254	broad.mit.edu	37	17	3788622	3788622	+	Splice_Site	SNP	C	G	G			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr17:3788622C>G	uc002fwv.3	-	2	508	c.360_splice	c.e2+1	p.E120_splice	CAMKK1_uc002fwt.3_Splice_Site_p.E120_splice|CAMKK1_uc002fwu.3_Splice_Site_p.E120_splice	NM_172207	NP_757344	Q8N5S9	KKCC1_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase kinase 1, alpha (CAMKK1), transcript variant 3, mRNA.	120					synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		CCCCACCAACCTCTGCATCTG	0.622000														24			12		0	0	0.001855	0	0
KIAA0528	9847	broad.mit.edu	37	12	22623804	22623804	+	Silent	SNP	C	T	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr12:22623804C>T	uc010sit.2	-	21	2634	c.2406G>A	c.(2404-2406)caG>caA	p.Q802Q	KIAA0528_uc010sir.2_Silent_p.Q615Q|KIAA0528_uc010sis.2_Silent_p.Q800Q|KIAA0528_uc001rfq.3_Silent_p.Q800Q|KIAA0528_uc010siu.2_Silent_p.Q800Q|KIAA0528_uc001rfr.3_Silent_p.Q791Q	NM_014802	NP_055617	Q86YS7	K0528_HUMAN	Homo sapiens KIAA0528 (KIAA0528), mRNA.	800							protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TTTGTAAAGCCTGATTTTTGT	0.343000														51			20		0	0	0.012319	0	0
ZEB1	6935	broad.mit.edu	37	10	31812949	31812949	+	Missense_Mutation	SNP	G	T	T	rs35653460		TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr10:31812949G>T	uc001ivs.4	+	7	2753	c.2690G>T	c.(2689-2691)cGg>cTg	p.R897L	ZEB1_uc001ivr.4_Missense_Mutation_p.R679L|ZEB1_uc010qef.2_Missense_Mutation_p.R679L|ZEB1_uc009xlk.1_Missense_Mutation_p.R679L|ZEB1_uc001ivu.4_Missense_Mutation_p.R898L|ZEB1_uc010qeh.2_Missense_Mutation_p.R830L|ZEB1_uc001ivv.4_Missense_Mutation_p.R877L|ZEB1_uc001ivt.4_Missense_Mutation_p.R679L|ZEB1_uc009xlo.2_Missense_Mutation_p.R880L|ZEB1_uc009xlp.3_Missense_Mutation_p.R881L	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	897					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.R897Q(2)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAGAAAATGCGGAAGACAGAA	0.373000														78			47		4.10826e-27	1.09361e-26	0.014410	1	0
UNC13D	201294	broad.mit.edu	37	17	73831766	73831766	+	Silent	SNP	G	T	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr17:73831766G>T	uc002jpp.3	-	18	2069	c.1689C>A	c.(1687-1689)ctC>ctA	p.L563L	UNC13D_uc010wsk.1_Silent_p.L563L|UNC13D_uc002jpq.1_Silent_p.L213L	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	Homo sapiens unc-13 homolog D (C. elegans) (UNC13D), mRNA.	563	MHD1.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGAGCTCCTTGAGGCTGATGT	0.637000									Familial Hemophagocytic Lymphohistiocytosis					43			21		3.51602e-12	8.86036e-12	0.008871	1	0
ACTB	60	broad.mit.edu	37	7	5568236	5568236	+	Missense_Mutation	SNP	T	C	C			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr7:5568236T>C	uc003sot.4	-	3	562	c.478A>G	c.(478-480)Acc>Gcc	p.T160A	ACTB_uc003sor.4_Missense_Mutation_p.T38A|ACTB_uc003soq.4_Missense_Mutation_p.T38A	NM_001101	NP_001092	P60709	ACTB_HUMAN	Homo sapiens actin, beta (ACTB), mRNA.	160					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	MLL5-L complex|NuA4 histone acetyltransferase complex|cytoskeleton|cytosol|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		ACAGTGTGGGTGACCCCGTCA	0.607000														45			82		0	0	0.014410	0	0
SEC23IP	11196	broad.mit.edu	37	10	121692658	121692658	+	Missense_Mutation	SNP	T	C	C			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr10:121692658T>C	uc001leu.2	+	16	3110	c.2900T>C	c.(2899-2901)cTt>cCt	p.L967P	SEC23IP_uc010qtc.2_Missense_Mutation_p.L756P|SEC23IP_uc009xzk.2_Non-coding_Transcript	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN	Homo sapiens SEC23 interacting protein (SEC23IP), transcript variant 1, mRNA.	967	DDHD.				Golgi organization|intracellular protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment|endoplasmic reticulum	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		CTTTTCGCTCTTCAGAGTCAC	0.383000														66			52		0	0	0.014410	0	0
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	In_Frame_Del	DEL	AGC	-	-	rs76272937		TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr3:12046124_12046126delAGC	uc003bwm.3	+	0	263_265	c.99_101delAGC	c.(97-102)caagcg>cag	p.A34del	SYN2_uc003bwl.1_In_Frame_Del_p.A34del	NM_133625	NP_598328	Q86VA8	Q86VA8_HUMAN	Homo sapiens synapsin II (SYN2), transcript variant IIa, mRNA.	34					neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764													---	4	---	---	3	---					
FRYL	285527	broad.mit.edu	37	4	48598002	48598003	+	Frame_Shift_Del	DEL	TT	-	-			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr4:48598002_48598003delTT	uc003gyh.1	-	13	1655_1656	c.1050_1051delAA	c.(1048-1053)aaaatgfs	p.K350fs	FRYL_uc003gyk.3_Frame_Shift_Del_p.K350fs	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ACTCGAGACATTTTCGGATCTT	0.302													---	46	---	---	18	---					
NME5	8382	broad.mit.edu	37	5	137474383	137474383	+	Frame_Shift_Del	DEL	C	-	-			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr5:137474383delC	uc003lce.3	-	1	165	c.87delG	c.(85-87)gagfs	p.E29fs		NM_003551	NP_003542	P56597	NDK5_HUMAN	Homo sapiens non-metastatic cells 5, protein expressed in (nucleoside-diphosphate kinase) (NME5), mRNA.	29					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|anti-apoptosis|multicellular organismal development|spermatid development		ATP binding|nucleoside diphosphate kinase activity|protein binding			kidney(1)|large_intestine(1)|lung(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TATCTTGTATCTCCTCCTCTT	0.368													---	32	---	---	32	---					
BNC2	54796	broad.mit.edu	37	9	16552614	16552615	+	In_Frame_Ins	INS	-	GAA	GAA			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr9:16552614_16552615insGAA	uc003zml.3	-	4	722_723	c.582_583insTTC	c.(580-585)insTTC	p.194_195insF	BNC2_uc011lmw.2_In_Frame_Ins_p.99_100insF|BNC2_uc003zmm.3_In_Frame_Ins_p.152_153insF|BNC2_uc003zmq.1_In_Frame_Ins_p.208_209insF|BNC2_uc003zmr.1_In_Frame_Ins_p.231_232insF|BNC2_uc003zmp.1_In_Frame_Ins_p.222_223insF|BNC2_uc010mij.1_In_Frame_Ins_p.116_117insF|BNC2_uc011lmv.2_In_Frame_Ins_p.20_21insF|BNC2_uc003zmo.1_In_Frame_Ins_p.116_117insF	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	Homo sapiens basonuclin 2 (BNC2), mRNA.	194					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TTCAGGACGCTGAAGAGACGGT	0.550													---	64	---	---	17	---					
LCN12	286256	broad.mit.edu	37	9	139846817	139846819	+	In_Frame_Del	DEL	TGC	-	-			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr9:139846817_139846819delTGC	uc004ckc.3	+	0	46_48	c.38_40delTGC	c.(37-42)ttgctg>ttg	p.13_14LL>L	LCN12_uc022bpx.1_In_Frame_Del_p.13_14LL>L|LCN12_uc004ckb.3_In_Frame_Del_p.13_14LL>L			Q6JVE5	LCN12_HUMAN	Homo sapiens lipocalin 12 (LCN12), mRNA.	13					lipid metabolic process	extracellular region	binding|transporter activity			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		TGGCTCTCCTTGCTGAAAGTCCT	0.626													---	20	---	---	7	---					
C16orf7	9605	broad.mit.edu	37	16	89775318	89775318	+	Frame_Shift_Del	DEL	G	-	-			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr16:89775318delG	uc002fom.1	-	12	1769	c.1644delC	c.(1642-1644)cccfs	p.P548fs	C16orf7_uc002fol.1_Frame_Shift_Del_p.P478fs|LOC100128881_uc002fon.1_5'Flank	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	Homo sapiens chromosome 16 open reading frame 7 (C16orf7), mRNA.	548	VPS9.				ATP synthesis coupled proton transport		GTPase activator activity|transporter activity			breast(1)|lung(3)|ovary(1)	5		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		CCTCTGGGGTGGGGCAGTAGT	0.682													---	17	---	---	12	---					
FAM20A	54757	broad.mit.edu	37	17	66538845	66538846	+	Frame_Shift_Del	DEL	AA	-	-			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr17:66538845_66538846delAA	uc002jho.3	-	5	1205_1206	c.917_918delTT	c.(916-918)tttfs	p.F306fs	FAM20A_uc010wqp.2_Frame_Shift_Del_p.F168fs|FAM20A_uc002jhn.3_Frame_Shift_Del_p.L9fs	NM_017565	NP_001230675	Q96MK3	FA20A_HUMAN	Homo sapiens family with sequence similarity 20, member A (FAM20A), transcript variant 1, mRNA.	306						extracellular region				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					CTGGAGAGACAAAGAAAACACT	0.525													---	104	---	---	30	---					
SMARCB1	6598	broad.mit.edu	37	22	24175838	24175839	+	Frame_Shift_Ins	INS	-	T	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	631ce65b-a92f-4c3c-b0eb-c2e13249edd7	g.chr22:24175838_24175839insT	uc002zyd.3	+	7	1300_1301	c.1093_1094insT	c.(1093-1095)ctgfs	p.L365fs	SMARCB1_uc002zya.3_Intron|SMARCB1_uc002zyb.3_Frame_Shift_Ins_p.L356fs|SMARCB1_uc002zyc.3_Frame_Shift_Ins_p.L347fs	NM_001007468	NP_001007469	Q12824	SNF5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 (SMARCB1), transcript variant 2, mRNA.	356					DNA integration|cell cycle|chromatin remodeling|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleolus|nucleoplasm	p53 binding	p.?(2)|p.L266_*386del(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				GCTGGAGACTCTGACAGACGCT	0.629			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid							---	21	---	---	91	---					
FRYL	285527	broad.mit.edu	37	4	48598002	48598003	+	Frame_Shift_Del	DEL	TT	-	-			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr4:48598002_48598003delTT	uc003gyh.1	-	13	1655_1656	c.1050_1051delAA	c.(1048-1053)aaaatgfs	p.K350fs	FRYL_uc003gyk.3_Frame_Shift_Del_p.K350fs	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ACTCGAGACATTTTCGGATCTT	0.302													---	46	---	---	18	---					
NME5	8382	broad.mit.edu	37	5	137474383	137474383	+	Frame_Shift_Del	DEL	C	-	-			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr5:137474383delC	uc003lce.3	-	1	165	c.87delG	c.(85-87)gagfs	p.E29fs		NM_003551	NP_003542	P56597	NDK5_HUMAN	Homo sapiens non-metastatic cells 5, protein expressed in (nucleoside-diphosphate kinase) (NME5), mRNA.	29					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|anti-apoptosis|multicellular organismal development|spermatid development		ATP binding|nucleoside diphosphate kinase activity|protein binding			kidney(1)|large_intestine(1)|lung(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TATCTTGTATCTCCTCCTCTT	0.368													---	32	---	---	32	---					
BNC2	54796	broad.mit.edu	37	9	16552614	16552615	+	In_Frame_Ins	INS	-	GAA	GAA			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr9:16552614_16552615insGAA	uc003zml.3	-	4	722_723	c.582_583insTTC	c.(580-585)insTTC	p.194_195insF	BNC2_uc011lmw.2_In_Frame_Ins_p.99_100insF|BNC2_uc003zmm.3_In_Frame_Ins_p.152_153insF|BNC2_uc003zmq.1_In_Frame_Ins_p.208_209insF|BNC2_uc003zmr.1_In_Frame_Ins_p.231_232insF|BNC2_uc003zmp.1_In_Frame_Ins_p.222_223insF|BNC2_uc010mij.1_In_Frame_Ins_p.116_117insF|BNC2_uc011lmv.2_In_Frame_Ins_p.20_21insF|BNC2_uc003zmo.1_In_Frame_Ins_p.116_117insF	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	Homo sapiens basonuclin 2 (BNC2), mRNA.	194					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TTCAGGACGCTGAAGAGACGGT	0.550													---	64	---	---	17	---					
LCN12	286256	broad.mit.edu	37	9	139846817	139846819	+	In_Frame_Del	DEL	TGC	-	-			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr9:139846817_139846819delTGC	uc004ckc.3	+	0	46_48	c.38_40delTGC	c.(37-42)ttgctg>ttg	p.13_14LL>L	LCN12_uc022bpx.1_In_Frame_Del_p.13_14LL>L|LCN12_uc004ckb.3_In_Frame_Del_p.13_14LL>L			Q6JVE5	LCN12_HUMAN	Homo sapiens lipocalin 12 (LCN12), mRNA.	13					lipid metabolic process	extracellular region	binding|transporter activity			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		TGGCTCTCCTTGCTGAAAGTCCT	0.626													---	20	---	---	7	---					
C16orf7	9605	broad.mit.edu	37	16	89775318	89775318	+	Frame_Shift_Del	DEL	G	-	-			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr16:89775318delG	uc002fom.1	-	12	1769	c.1644delC	c.(1642-1644)cccfs	p.P548fs	C16orf7_uc002fol.1_Frame_Shift_Del_p.P478fs|LOC100128881_uc002fon.1_5'Flank	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	Homo sapiens chromosome 16 open reading frame 7 (C16orf7), mRNA.	548	VPS9.				ATP synthesis coupled proton transport		GTPase activator activity|transporter activity			breast(1)|lung(3)|ovary(1)	5		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		CCTCTGGGGTGGGGCAGTAGT	0.682													---	17	---	---	12	---					
FAM20A	54757	broad.mit.edu	37	17	66538845	66538846	+	Frame_Shift_Del	DEL	AA	-	-			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr17:66538845_66538846delAA	uc002jho.3	-	5	1205_1206	c.917_918delTT	c.(916-918)tttfs	p.F306fs	FAM20A_uc010wqp.2_Frame_Shift_Del_p.F168fs|FAM20A_uc002jhn.3_Frame_Shift_Del_p.L9fs	NM_017565	NP_001230675	Q96MK3	FA20A_HUMAN	Homo sapiens family with sequence similarity 20, member A (FAM20A), transcript variant 1, mRNA.	306						extracellular region				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					CTGGAGAGACAAAGAAAACACT	0.525													---	104	---	---	30	---					
CTCFL	140690	broad.mit.edu	37	20	56099187	56099187	+	Frame_Shift_Del	DEL	T	-	-			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr20:56099187delT	uc010giw.1	-	1	186	c.75delA	c.(73-75)aaafs	p.K25fs	CTCFL_uc010gix.1_Frame_Shift_Del_p.K25fs|CTCFL_uc002xym.2_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjb.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gja.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjc.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjd.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gje.3_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjg.3_Intron|CTCFL_uc010gjf.3_Intron|CTCFL_uc010gjh.2_Frame_Shift_Del_p.K25fs|CTCFL_uc010gji.2_Intron|CTCFL_uc010gjj.2_Frame_Shift_Del_p.K25fs|CTCFL_uc021wfe.1_Frame_Shift_Del_p.K25fs|CTCFL_uc021wff.1_Intron|CTCFL_uc021wfg.1_Intron|CTCFL_uc010gjk.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjl.1_Frame_Shift_Del_p.K25fs	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.	25					DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CCTTCAGGCCTTTTTCCGGCA	0.502													---	536	---	---	9	---					
SMARCB1	6598	broad.mit.edu	37	22	24175838	24175839	+	Frame_Shift_Ins	INS	-	T	T			TCGA-GL-6846-01A-11D-1961-08	TCGA-GL-6846-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98a51f37-1d5f-4db0-b785-b751168bf46e	a2f6645f-12e1-48ca-9592-46e5300700bb	g.chr22:24175838_24175839insT	uc002zyd.3	+	7	1300_1301	c.1093_1094insT	c.(1093-1095)ctgfs	p.L365fs	SMARCB1_uc002zya.3_Intron|SMARCB1_uc002zyb.3_Frame_Shift_Ins_p.L356fs|SMARCB1_uc002zyc.3_Frame_Shift_Ins_p.L347fs	NM_001007468	NP_001007469	Q12824	SNF5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 (SMARCB1), transcript variant 2, mRNA.	356					DNA integration|cell cycle|chromatin remodeling|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleolus|nucleoplasm	p53 binding	p.?(2)|p.L266_*386del(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				GCTGGAGACTCTGACAGACGCT	0.629			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid							---	21	---	---	91	---					
