Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
HIST1H3G	8355	broad.mit.edu	37	6	26271485	26271485	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr6:26271485C>A	uc003nhi.3	-	0	128	c.128G>T	c.(127-129)cGt>cTt	p.R43L	BC079832_uc003nhj.3_5'Flank|HIST1H2BI_uc003nhk.3_5'Flank	NM_003534	NP_066298	P68431	H31_HUMAN	Homo sapiens histone cluster 1, H3g (HIST1H3G), mRNA.	43					S phase|blood coagulation|nucleosome assembly|regulation of gene silencing	nucleoplasm|nucleosome	DNA binding|protein binding	p.R43C(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						GGTGCCGGGACGGTAGCGATG	0.637000													6	106					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141607757	141607757	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr2:141607757T>A	uc002tvj.1	-	28	5825	c.4853A>T	c.(4852-4854)gAa>gTa	p.E1618V	LRP1B_uc010fnl.1_Missense_Mutation_p.E800V	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1618					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTATAAACGTTCCTCAGATGC	0.363000										TSP Lung(27;0.18)			7	65					0	0	1	0	0
CDC20B	166979	broad.mit.edu	37	5	54420671	54420671	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr5:54420671C>T	uc003jpo.2	-	8	1352	c.1175G>A	c.(1174-1176)gGc>gAc	p.G392D	CDC20B_uc003jpn.2_Missense_Mutation_p.G392D|CDC20B_uc010ivu.2_Missense_Mutation_p.G392D|CDC20B_uc010ivv.2_3'UTR	NM_001170402	NP_001163873	Q86Y33	CD20B_HUMAN	Homo sapiens cell division cycle 20 homolog B (S. cerevisiae) (CDC20B), transcript variant 3, mRNA.	392										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			CAGCGGTTGGCCCTGTGCACT	0.537000													4	84					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121206355	121206355	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr3:121206355A>G	uc003eee.4	-	15	5552	c.5423T>C	c.(5422-5424)tTa>tCa	p.L1808S	POLQ_uc003eed.3_Missense_Mutation_p.L980S	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	1808					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)		ATCCTGTGATAACTGAAGTGA	0.388000								DNA polymerases (catalytic subunits)					8	106					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238274427	238274427	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr2:238274427G>A	uc002vwl.2	-	11	6037	c.5752C>T	c.(5752-5754)Cgc>Tgc	p.R1918C	COL6A3_uc002vwo.2_Missense_Mutation_p.R1712C|COL6A3_uc010znj.1_Missense_Mutation_p.R1311C	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1918	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGCTGGCTGCGCATGTTCCGG	0.617000													6	112					0	0	1	0	0
HIPK3	10114	broad.mit.edu	37	11	33308014	33308014	+	Silent	SNP	T	T	C			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr11:33308014T>C	uc001mul.1	+	1	324	c.54T>C	c.(52-54)agT>agC	p.S18S	HIPK3_uc001mum.1_Silent_p.S18S|HIPK3_uc009yjv.1_Silent_p.S18S	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	Homo sapiens homeodomain interacting protein kinase 3 (HIPK3), transcript variant 1, mRNA.	18					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						CTCAGTCAAGTGCCTTTTGTA	0.373000													3	36					0	0	1	0	0
ZNF883	169834	broad.mit.edu	37	9	115759947	115759947	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr9:115759947C>T	uc011lwy.2	-	4	1832	c.593G>A	c.(592-594)cGa>cAa	p.R198Q		NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN	Homo sapiens zinc finger protein 883 (ZNF883), mRNA.	198					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										TCTCTGATGTCGGATTAGTGA	0.408000													19	49					0	0	1	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45458702	45458702	+	RNA	SNP	G	G	T			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr12:45458702G>T	uc001rol.3	-	0		c.493C>A								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		CAGATTCATCGCTAATTTAAA	0.438000													11	23					0	0	1	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	Missense_Mutation	SNP	C	C	T	rs141013110		TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr6:26422353C>T	uc011dkl.1	+	0	37	c.7C>T	c.(7-9)Cca>Tca	p.P3S	BTN2A3P_uc011dkm.2_Non-coding_Transcript					Homo sapiens butyrophilin, subfamily 2, member A3, pseudogene (BTN2A3P), non-coding RNA.									p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000													5	178					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13724865	13724865	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr12:13724865G>A	uc001rbt.2	-	9	2223	c.2044C>T	c.(2044-2046)Cgc>Tgc	p.R682C		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	682					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTCCCAAAGCGGAAAGGGGGT	0.488000													4	36					0	0	1	0	0
FAM198B	51313	broad.mit.edu	37	4	159092350	159092350	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr4:159092350G>A	uc003ipq.4	-	1	585	c.178C>T	c.(178-180)Ctc>Ttc	p.L60F	AK096792_uc003ipu.1_5'Flank|FAM198B_uc003ipp.4_Missense_Mutation_p.L60F|FAM198B_uc003ipr.4_Missense_Mutation_p.L60F|FAM198B_uc003ips.3_Missense_Mutation_p.L60F|AK126266_uc003ipt.1_Non-coding_Transcript	NM_001031700	NP_001026870	Q6UWH4	F198B_HUMAN	Homo sapiens family with sequence similarity 198, member B (FAM198B), transcript variant 1, mRNA.	60						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						CCATGCTGGAGAGAGGCCCTC	0.662000													6	101					0	0	1	0	0
RAB13	5872	broad.mit.edu	37	1	153958656	153958656	+	Silent	SNP	C	C	T			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr1:153958656C>T	uc001fdt.1	-	0	151	c.57G>A	c.(55-57)gtG>gtA	p.V19V	RAB13_uc001fdu.1_Silent_p.V19V	NM_002870	NP_002861	P51153	RAB13_HUMAN	Homo sapiens RAB13, member RAS oncogene family (RAB13), mRNA.	19					cell adhesion|protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	cytoplasmic vesicle membrane|tight junction	GTP binding|GTPase activity			breast(1)|endometrium(3)|kidney(1)|lung(5)|urinary_tract(1)	11	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AAGTCTTGCCCACCCCCGAGT	0.627000													8	26					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185939492	185939492	+	Silent	SNP	A	A	T			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr1:185939492A>T	uc001grq.1	+	14	2467	c.2238A>T	c.(2236-2238)acA>acT	p.T746T	HMCN1_uc001grr.1_Silent_p.T87T	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	746	Ig-like C2-type 4.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGCCCTCAACATTCCTCATTA	0.383000													7	177					0	0	1	0	0
MPEG1	219972	broad.mit.edu	37	11	58979777	58979777	+	Silent	SNP	T	T	G			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr11:58979777T>G	uc001nnu.4	-	0	718	c.562A>C	c.(562-564)Agg>Cgg	p.R188R		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	Homo sapiens macrophage expressed 1 (MPEG1), mRNA.	188	MACPF.					integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GTGGCCATCCTCGTCTGGTTG	0.527000													8	105					0	0	1	0	0
ITGB8	3696	broad.mit.edu	37	7	20444317	20444317	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr7:20444317G>A	uc003suu.3	+	10	2459	c.1754G>A	c.(1753-1755)tGc>tAc	p.C585Y	ITGB8_uc011jyh.2_Missense_Mutation_p.C450Y	NM_002214	NP_002205	P26012	ITB8_HUMAN	Homo sapiens integrin, beta 8 (ITGB8), mRNA.	585	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						CGATGCCAGTGCCCTTCAGCA	0.562000													5	47					0	0	1	0	0
PAN2	9924	broad.mit.edu	37	12	56711419	56711419	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr12:56711419C>T	uc001skx.3	-	25	3960	c.3583G>A	c.(3583-3585)Gtc>Atc	p.V1195I	CNPY2_uc001sku.2_5'Flank|CNPY2_uc001skv.3_5'Flank|PAN2_uc001skw.3_Missense_Mutation_p.V343I|PAN2_uc001sky.3_Missense_Mutation_p.V1191I|PAN2_uc001skz.3_Missense_Mutation_p.V1194I	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	Homo sapiens PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN2), transcript variant 1, mRNA.	1195					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GAGGAGAAGACAGCTGCATCT	0.463000													5	49					0	0	1	0	0
ZNF519	162655	broad.mit.edu	37	18	14105529	14105529	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr18:14105529T>C	uc002kst.2	-	2	1223	c.1010A>G	c.(1009-1011)cAa>cGa	p.Q337R	ZNF519_uc002ksr.2_Intron|ZNF519_uc002ksq.2_Intron	NM_145287	NP_660330	Q8TB69	ZN519_HUMAN	Homo sapiens zinc finger protein 519 (ZNF519), transcript variant 1, mRNA.	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T336I(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						TCTCTGATGTTGAGTAAGGTA	0.428000													10	132					0	0	1	0	0
MCPH1	79648	broad.mit.edu	37	8	6312713	6312713	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr8:6312713C>G	uc003wqi.3	+	8	1951	c.1875C>G	c.(1873-1875)gaC>gaG	p.D625E		NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	Homo sapiens microcephalin 1 (MCPH1), transcript variant 1, mRNA.	625						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		ACTCATGTGACGGCTTTAAGG	0.348000													8	98					0	0	1	0	0
SGCZ	137868	broad.mit.edu	37	8	14412372	14412372	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr8:14412372G>T	uc003wwq.3	-	1	763	c.103C>A	c.(103-105)Caa>Aaa	p.Q35K	SGCZ_uc010lss.3_Missense_Mutation_p.Q22K	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	Homo sapiens sarcoglycan, zeta (SGCZ), mRNA.	22					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma		p.Q35Q(2)		NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		GGGTAAAGTTGTGCATTCTCA	0.388000													7	185					0	0	1	0	0
MTHFD1	4522	broad.mit.edu	37	14	64909076	64909076	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr14:64909076G>T	uc001xhb.3	+	20	2479	c.2092G>T	c.(2092-2094)Gtt>Ttt	p.V698F	MTHFD1_uc010aqf.3_Missense_Mutation_p.V754F	NM_005956	NP_005947	P11586	C1TC_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase (MTHFD1), mRNA.	698	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	GGTGGTGCTTGTTGCCACTGT	0.537000													4	89					0	0	1	0	0
MYL6B	140465	broad.mit.edu	37	12	56549344	56549344	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr12:56549344G>C	uc001sjs.3	+	4	746	c.488G>C	c.(487-489)gGa>gCa	p.G163A	MYL6B_uc009zoo.3_Missense_Mutation_p.G163A|MYL6B_uc001sjt.3_Missense_Mutation_p.G163A|MYL6_uc001sjw.2_5'Flank|MYL6_uc001sjx.2_5'Flank|MYL6_uc010sqe.2_5'Flank|MYL6_uc010sqd.2_5'Flank	NM_002475	NP_002466	P14649	MYL6B_HUMAN	Homo sapiens myosin, light chain 6B, alkali, smooth muscle and non-muscle (MYL6B), transcript variant 2, mRNA.	163	EF-hand 2.				muscle filament sliding|skeletal muscle tissue development	cytosol|muscle myosin complex|unconventional myosin complex	calcium ion binding|motor activity|protein binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(4)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			AAAGTCATGGGAGCAGAGCTC	0.567000													9	161					0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57181784	57181784	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr4:57181784C>T	uc003hbk.2	+	7	2507	c.2116C>T	c.(2116-2118)Cgc>Tgc	p.R706C	KIAA1211_uc010iha.2_Missense_Mutation_p.R699C|KIAA1211_uc011bzz.1_Missense_Mutation_p.R616C|KIAA1211_uc003hbm.1_Missense_Mutation_p.R592C	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	Homo sapiens KIAA1211 (KIAA1211), mRNA.	706										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GTGTGATTCCCGCGGGAACCA	0.582000													20	146					0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75985564	75985564	+	Silent	SNP	G	G	A			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr15:75985564G>A	uc002baw.3	-	1	192	c.99C>T	c.(97-99)ttC>ttT	p.F33F		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	33	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 1.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GGTTCTCACCGAAGAAGGAAG	0.617000													7	24					0	0	1	0	0
ADIPOR2	79602	broad.mit.edu	37	12	1889767	1889767	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr12:1889767A>G	uc001qjm.3	+	4	811	c.614A>G	c.(613-615)tAc>tGc	p.Y205C	ADIPOR2_uc001qjn.3_Missense_Mutation_p.Y205C	NM_024551	NP_078827	Q86V24	ADR2_HUMAN	Homo sapiens adiponectin receptor 2 (ADIPOR2), mRNA.	205					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity			endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			CACACAGTCTACTGCCACTCA	0.448000													15	158					0	0	1	0	0
GLG1	2734	broad.mit.edu	37	16	74490581	74490581	+	Missense_Mutation	SNP	T	T	C	rs144493700	byFrequency	TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr16:74490581T>C	uc002fcx.3	-	24	3388	c.3338A>G	c.(3337-3339)aAt>aGt	p.N1113S	GLG1_uc002fcw.4_Missense_Mutation_p.N1102S|GLG1_uc002fcy.4_Missense_Mutation_p.N1113S|GLG1_uc002fcz.4_Missense_Mutation_p.N530S	NM_012201	NP_036333	Q92896	GSLG1_HUMAN	Homo sapiens golgi glycoprotein 1 (GLG1), transcript variant 1, mRNA.	1113						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						AATCCGGTCATTGAGGCGCTT	0.418000													23	112					0	0	1	0	0
SPATA2	9825	broad.mit.edu	37	20	48525010	48525010	+	Silent	SNP	T	T	G			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr20:48525010T>G	uc010gie.3	-	1	368	c.18A>C	c.(16-18)tcA>tcC	p.S6S	SPATA2_uc002xuw.3_Silent_p.S6S|SPATA2_uc010zyn.2_Intron	NM_001135773	NP_006029	Q9UM82	SPAT2_HUMAN	Homo sapiens spermatogenesis associated 2 (SPATA2), transcript variant 2, mRNA.	6					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			TAGTATCCATTGAACTGGGCT	0.522000													5	51					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88956732	88956732	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr7:88956732A>C	uc011khi.2	+	2	862	c.324A>C	c.(322-324)caA>caC	p.Q108H		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	108						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AGAAAAAACAAGAAAAAGCAC	0.373000										HNSCC(36;0.09)			4	70					0	0	1	0	0
DMPK	1760	broad.mit.edu	37	19	46281067	46281067	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr19:46281067C>T	uc002pdi.1	-	7	1004	c.818G>A	c.(817-819)gGc>gAc	p.G273D	DMPK_uc010xxs.1_Missense_Mutation_p.G158D|DMPK_uc002pdd.1_Missense_Mutation_p.G257D|DMPK_uc002pde.1_Missense_Mutation_p.G257D|DMPK_uc002pdg.1_Missense_Mutation_p.G247D|DMPK_uc002pdf.1_Missense_Mutation_p.G247D|DMPK_uc002pdh.1_Missense_Mutation_p.G247D|DMPK_uc010xxt.1_Missense_Mutation_p.G247D	NM_001081563	NP_001075032	Q09013	DMPK_HUMAN	Homo sapiens dystrophia myotonica-protein kinase (DMPK), transcript variant 1, mRNA.	257	Protein kinase.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		AGGCCCACCGCCCACAGCCTG	0.652000													8	161					0	0	1	0	0
SLC2A14	144195	broad.mit.edu	37	12	7967015	7967015	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr12:7967015C>T	uc010sgh.2	-	9	1526	c.1505G>A	c.(1504-1506)cGg>cAg	p.R502Q	SLC2A14_uc001qtk.3_Missense_Mutation_p.R487Q|SLC2A14_uc001qtl.3_Missense_Mutation_p.R464Q|SLC2A14_uc001qtm.3_Missense_Mutation_p.R464Q|SLC2A14_uc010sgg.2_Missense_Mutation_p.R378Q|SLC2A14_uc001qtn.3_Missense_Mutation_p.R487Q|SLC2A14_uc001qto.3_Missense_Mutation_p.R122Q	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA.	487					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		TTCAAAGGCCCGTGTGATATC	0.517000													4	159					0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49416433	49416433	+	Nonsense_Mutation	SNP	G	G	C			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr12:49416433G>C	uc001rta.4	-	50	16278	c.16278C>G	c.(16276-16278)taC>taG	p.Y5426*		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	5426	SET.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TGGTGCCAATGTACTCGATAA	0.552000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)			55	239					0	0	1	0	0
P4HA2	8974	broad.mit.edu	37	5	131544974	131544974	+	Silent	SNP	A	A	G	rs148453847	by1000genomes	TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr5:131544974A>G	uc003kwh.3	-	6	1324	c.760T>C	c.(760-762)Ttg>Ctg	p.L254L	P4HA2_uc003kwg.3_Silent_p.L254L|P4HA2_uc003kwi.3_Silent_p.L254L|P4HA2_uc003kwk.3_Silent_p.L254L|P4HA2_uc003kwl.3_Silent_p.L254L|P4HA2_uc003kwj.3_Silent_p.L254L	NM_004199	NP_004190	O15460	P4HA2_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide II (P4HA2), transcript variant 1, mRNA.	254						endoplasmic reticulum lumen	L-ascorbic acid binding|electron carrier activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	TCTTCCTCCAATAACTGCTCA	0.468000													7	231					0	0	1	0	0
IL17RA	23765	broad.mit.edu	37	22	17589607	17589607	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr22:17589607G>A	uc002zly.3	+	12	1629	c.1498G>A	c.(1498-1500)Gta>Ata	p.V500I		NM_014339	NP_055154	Q96F46	I17RA_HUMAN	Homo sapiens interleukin 17 receptor A (IL17RA), mRNA.	500	SEFIR.				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CGGCACCTACGTAGTCTGCTA	0.642000													4	28					0	0	1	0	0
CR1L	1379	broad.mit.edu	37	1	207818584	207818584	+	Silent	SNP	G	G	T			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr1:207818584G>T	uc001hga.4	+	0	127	c.6G>T	c.(4-6)gcG>gcT	p.A2A	CR1L_uc001hfz.2_Non-coding_Transcript	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA.	2						cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CGCTCATGGCGCCTCCCGTCC	0.637000													5	88					0	0	1	0	0
KANK1	23189	broad.mit.edu	37	9	732477	732477	+	Silent	SNP	G	G	A			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr9:732477G>A	uc003zgl.1	+	9	3754	c.3105G>A	c.(3103-3105)gaG>gaA	p.E1035E	KANK1_uc003zgm.3_3'UTR|KANK1_uc003zgn.1_Silent_p.E1035E|KANK1_uc003zgs.1_Silent_p.E877E|KANK1_uc010mgx.1_5'UTR|KANK1_uc010mgy.1_5'UTR|KANK1_uc003zgt.1_5'Flank	NM_015158	NP_055973	Q14678	KANK1_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 1 (KANK1), transcript variant 1, mRNA.	1035					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TTGAAGAAGAGGAGGAGGAGG	0.468000													4	131					0	0	1	0	0
PRTFDC1	56952	broad.mit.edu	37	10	25160959	25160959	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr10:25160959C>T	uc001ise.1	-	3	402	c.373G>A	c.(373-375)Gga>Aga	p.G125R	PRTFDC1_uc010qdd.1_Missense_Mutation_p.G125R|PRTFDC1_uc009xkm.1_Non-coding_Transcript	NM_020200	NP_064585	Q9NRG1	PRDC1_HUMAN	Homo sapiens phosphoribosyl transferase domain containing 1 (PRTFDC1), mRNA.	125					GMP salvage|IMP salvage|adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|grooming behavior|hypoxanthine metabolic process|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity	p.G125R(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						TCATCGCCTCCGATTATCTGC	0.453000													11	314					0	0	1	0	0
PROSER1	80209	broad.mit.edu	37	13	39586310	39586310	+	Silent	SNP	C	C	T			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr13:39586310C>T	uc001uwy.3	-	11	3495	c.2622G>A	c.(2620-2622)ccG>ccA	p.P874P	PROSER1_uc001uwz.3_Silent_p.P852P	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	Homo sapiens proline and serine rich 1 (PROSER1), transcript variant 1, mRNA.	874								p.P874P(1)									CAGGGATACCCGGGAGGGACA	0.453000													18	278					0	0	1	0	0
SLC12A7	10723	broad.mit.edu	37	5	1065403	1065403	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr5:1065403A>G	uc003jbu.3	-	17	2498	c.2432T>C	c.(2431-2433)tTt>tCt	p.F811S	MIR4635_uc021xvy.1_5'Flank	NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	811					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CCTACCCACAAAGTTCTTCCA	0.642000													5	94					0	0	1	0	0
DDX11L2	84771	broad.mit.edu	37	2	114357557	114357557	+	Nonstop_Mutation	SNP	A	A	G	rs115341812	by1000genomes	TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr2:114357557A>G	uc010yxx.1	-	2	709	c.382T>C	c.(382-384)Tag>Cag	p.*128Q						Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 2 (DDX11L2), transcript variant 2, non-coding RNA.																		GCCTACTTCTAGTGAAACTGG	0.567000													3	22					0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38511002	38511002	+	Silent	SNP	A	A	C			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr21:38511002A>C	uc002yvz.3	+	18	1752	c.1647A>C	c.(1645-1647)atA>atC	p.I549I	TTC3_uc011aee.1_Silent_p.I239I|TTC3_uc002ywa.3_Silent_p.I549I|TTC3_uc002ywb.3_Silent_p.I549I|TTC3_uc010gnf.3_Silent_p.I314I|TTC3_uc002ywc.3_Silent_p.I239I|TTC3_uc011aed.1_Silent_p.I239I|TTC3_uc010gne.1_Silent_p.I549I	NM_001001894	NP_003307	P53804	TTC3_HUMAN	Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.	549					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TCCTTGGAATAGGACAGCCTG	0.323000													5	120					0	0	1	0	0
FDXACB1	91893	broad.mit.edu	37	11	111745901	111745901	+	Silent	SNP	A	A	G			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr11:111745901A>G	uc001pmc.4	-	4	1945	c.1620T>C	c.(1618-1620)gtT>gtC	p.V540V	ALG9_uc010rwo.2_Intron|FDXACB1_uc009yyi.3_Silent_p.V391V	NM_138378	NP_612387	Q9BRP7	FDXA1_HUMAN	Homo sapiens ferredoxin-fold anticodon binding domain containing 1 (FDXACB1), transcript variant 1, mRNA.	540	FDX-ACB.				phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						TCCAAAAACTAACATCATGCA	0.383000													3	47					0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26505785	26505785	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr10:26505785G>A	uc001isp.2	+	0	550	c.47G>A	c.(46-48)gGc>gAc	p.G16D	GAD2_uc009xkr.3_Missense_Mutation_p.G16D|GAD2_uc001isq.2_Missense_Mutation_p.G16D	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	Homo sapiens glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) (GAD2), transcript variant 2, mRNA.	16					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	Golgi membrane|cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	TCGGAAGATGGCTCTGGGGAT	0.637000													7	115					0	0	1	0	0
GNRHR	2798	broad.mit.edu	37	4	68619905	68619905	+	Missense_Mutation	SNP	G	G	A	rs150422225		TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr4:68619905G>A	uc003hdn.3	-	0	1900	c.149C>T	c.(148-150)gCg>gTg	p.A50V	LOC550112_uc003hdl.4_Intron|GNRHR_uc003hdm.3_Missense_Mutation_p.A50V	NM_000406	NP_000397	P30968	GNRHR_HUMAN	Homo sapiens gonadotropin-releasing hormone receptor (GNRHR), transcript variant 1, mRNA.	50					multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	ATTAAAGGTCGCAGAGAGCAG	0.443000													28	106					0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48218517	48218517	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr16:48218517G>A	uc002eff.1	-	21	3442	c.3092C>T	c.(3091-3093)gCg>gTg	p.A1031V	ABCC11_uc002efg.1_Missense_Mutation_p.A1031V|ABCC11_uc002efh.1_Missense_Mutation_p.A1031V|ABCC11_uc010cbg.1_Non-coding_Transcript	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	1031	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				GTTATTCTGCGCATCAGTCAG	0.507000													6	106					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26455034	26455034	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr10:26455034G>A	uc001isn.2	+	26	3398	c.3038G>A	c.(3037-3039)cGc>cAc	p.R1013H	MYO3A_uc009xko.1_Missense_Mutation_p.R1013H|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1013	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	p.R1013H(2)|p.R1013C(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GAGGAGCCCCGCATGAGCCCT	0.448000													5	273					0	0	1	0	0
MPPED1	758	broad.mit.edu	37	22	43870650	43870650	+	Silent	SNP	A	A	G	rs143130815	by1000genomes	TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr22:43870650A>G	uc011apz.2	+	3	881	c.540A>G	c.(538-540)gcA>gcG	p.A180A	MPPED1_uc011apv.2_Silent_p.A147A|MPPED1_uc011apw.2_Silent_p.A41A|MPPED1_uc011apx.2_5'UTR|MPPED1_uc011apy.2_Silent_p.A147A	NM_001044370	NP_001037835	O15442	MPPD1_HUMAN	Homo sapiens metallophosphoesterase domain containing 1 (MPPED1), mRNA.	147							hydrolase activity	p.A147A(1)		endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				TCGTGATCGCAGGCAACCACG	0.562000													4	154					0	0	1	0	0
FMNL3	91010	broad.mit.edu	37	12	50041125	50041125	+	Silent	SNP	G	G	T			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr12:50041125G>T	uc001ruv.1	-	23	3039	c.2805C>A	c.(2803-2805)cgC>cgA	p.R935R	FMNL3_uc001ruw.1_Silent_p.R884R|FMNL3_uc001rut.1_Silent_p.R501R|FMNL3_uc001ruu.1_Silent_p.R785R	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN	Homo sapiens formin-like 3 (FMNL3), transcript variant 1, mRNA.	935	FH2.				actin cytoskeleton organization		Rho GTPase binding|actin binding	p.P934P(1)		breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						CCTGCTTCTTGCGGGCTTCAT	0.597000													8	114					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100363150	100363150	+	Silent	SNP	C	C	T			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr7:100363150C>T	uc003uwj.3	+	22	4608	c.4443C>T	c.(4441-4443)tgC>tgT	p.C1481C	ZAN_uc003uwk.3_Silent_p.C1481C|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kkd.1_Silent_p.C58C	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	1481	VWFC 2.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.C1481F(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGTGTGGGTGCCTCCACCCTG	0.637000													4	16					0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117582	117582	+	RNA	SNP	C	C	G			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chrGL000205.1:117582C>G	uc002kgk.4	+	0		c.960C>G								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		AAGAGACAGCCGACTCCACCA	0.612000													10	23					0	0	1	0	0
PYGL	5836	broad.mit.edu	37	14	51372228	51372228	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr14:51372228G>A	uc001wyu.3	-	19	2553	c.2426C>T	c.(2425-2427)tCg>tTg	p.S809L	PYGL_uc010tqq.2_Missense_Mutation_p.S775L	NM_002863	NP_002854	P06737	PYGL_HUMAN	Homo sapiens phosphorylase, glycogen, liver (PYGL), transcript variant 1, mRNA.	809					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	p.S809S(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	GAATTTCCCCGAGGCAGCTAT	0.423000													13	108					0	0	1	0	0
MCHR2	84539	broad.mit.edu	37	6	100390958	100390958	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr6:100390958G>A	uc003pqh.1	-	3	769	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W	MCHR2_uc003pqi.1_Missense_Mutation_p.R152W	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	152			R -> Q (no changes in receptor binding or functional signaling).			integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R152L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AAATTGATCCGGATGGTCTTG	0.473000													9	133					0	0	1	0	0
PLSCR5	389158	broad.mit.edu	37	3	146311885	146311885	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr3:146311885T>C	uc010hvc.3	-	3	1279	c.275A>G	c.(274-276)aAc>aGc	p.N92S	PLSCR5_uc010hvb.3_Missense_Mutation_p.N80S	NM_001085420	NP_001078889	A0PG75	PLS5_HUMAN	Homo sapiens phospholipid scramblase family, member 5 (PLSCR5), mRNA.	92										endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						TCCCAAGCTGTTTTTAATCTC	0.348000													25	117					0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106478128	106478128	+	RNA	SNP	G	G	A			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr14:106478128G>A	uc021ser.1	-	2451		c.42945C>T								Parts of antibodies, mostly variable regions.																		AGTAATACACGGCCGTGTCCG	0.607000													5	579					0	0	1	0	0
CCDC144NL	339184	broad.mit.edu	37	17	20799125	20799125	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr17:20799125T>C	uc002gyf.3	-	0	329	c.209A>G	c.(208-210)gAc>gGc	p.D70G	AK057473_uc002gyg.1_Intron|AK057473_uc002gyh.1_Intron	NM_001004306	NP_001004306	Q6NUI1	C144L_HUMAN	Homo sapiens coiled-coil domain containing 144 family, N-terminal like (CCDC144NL), mRNA.	70								p.D70H(1)		large_intestine(3)|lung(3)|skin(1)	7						CTGGAGCTGGTCTAAGGCGCC	0.642000													7	191					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38592968	38592968	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr3:38592968C>T	uc021wvo.1	-	26	4947	c.4895G>A	c.(4894-4896)cGc>cAc	p.R1632H	SCN5A_uc021wvk.1_Missense_Mutation_p.R1599H|SCN5A_uc021wvl.1_Missense_Mutation_p.R1578H|SCN5A_uc021wvm.1_Missense_Mutation_p.R1614H|SCN5A_uc021wvn.1_Missense_Mutation_p.R1631H|SCN5A_uc021wvp.1_Missense_Mutation_p.R1632H|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Missense_Mutation_p.R1444H|SCN5A_uc021wvi.1_Missense_Mutation_p.R1498H	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1632					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TCTGAGGATGCGGCCTATTCG	0.592000													4	159					0	0	1	0	0
ANKRD36BP2	645784	broad.mit.edu	37	2	89084114	89084114	+	Splice_Site	SNP	G	G	A			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr2:89084114G>A	uc010fhf.3	+	5		c.471_splice	c.e5-1		ANKRD36BP2_uc010fhg.3_Splice_Site|ANKRD36BP2_uc010fhh.3_Splice_Site					Homo sapiens ankyrin repeat domain 36B pseudogene 2 (ANKRD36BP2), non-coding RNA.																		TTGCTTTTCAGTGTCTTCTCA	0.313000													7	62					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128013	152128013	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr1:152128013A>G	uc001ezs.1	-	2	1627	c.1562T>C	c.(1561-1563)tTc>tCc	p.F521S		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	521	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACCATAGTGGAAACTCTGGCC	0.507000													10	897					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121192246	121192246	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr3:121192246A>T	uc003eee.4	-	20	6623	c.6494T>A	c.(6493-6495)aTt>aAt	p.I2165N	POLQ_uc003eed.3_Missense_Mutation_p.I1337N	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	2165					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)		TCCATTGTCAATCCCTCTTCT	0.443000								DNA polymerases (catalytic subunits)					20	231					0	0	1	0	0
CDH24	64403	broad.mit.edu	37	14	23524544	23524544	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr14:23524544G>A	uc001wil.3	-	2	480	c.220C>T	c.(220-222)Cgg>Tgg	p.R74W	CDH24_uc010akf.3_Missense_Mutation_p.R74W|CDH24_uc001win.3_Missense_Mutation_p.R74W	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	Homo sapiens cadherin 24, type 2 (CDH24), transcript variant 1, mRNA.	74	Cadherin 1.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CCCTCTCCCCGGTCAACATCC	0.557000											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	75					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100677621	100677621	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr7:100677621C>A	uc003uxp.1	+	2	2977	c.2924C>A	c.(2923-2925)aCc>aAc	p.T975N	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	975	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGCATACCAACCTCGACTCCT	0.502000													26	813					0	0	1	0	0
TMEM184C	55751	broad.mit.edu	37	4	148555575	148555575	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr4:148555575delT	uc003ila.4	+	9	1876	c.1307delT	c.(1306-1308)gtgfs	p.V436fs		NM_018241	NP_060711	Q9NVA4	T184C_HUMAN	Homo sapiens transmembrane protein 184C (TMEM184C), mRNA.	436						integral to membrane		p.V436M(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						GATAAATCCGTGGATTCCTGA	0.398													9	76	---	---	---	---					
MEST	4232	broad.mit.edu	37	7	130143791	130143791	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr7:130143791delC	uc003vqg.3	+	10	1100	c.844delC	c.(844-846)ccafs	p.P282fs	MEST_uc003vqc.3_Frame_Shift_Del_p.P273fs|MEST_uc003vqd.3_Frame_Shift_Del_p.P239fs|MEST_uc022alp.1_Frame_Shift_Del_p.P239fs|MEST_uc003vqf.3_Frame_Shift_Del_p.P273fs|MEST_uc011kph.2_Frame_Shift_Del_p.P268fs	NM_002402	NP_002393	Q5EB52	MEST_HUMAN	Homo sapiens mesoderm specific transcript homolog (mouse) (MEST), transcript variant 1, mRNA.	282					mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					TATCTATGGGCCATTGGATCC	0.408													11	80	---	---	---	---					
VN1R2	317701	broad.mit.edu	37	19	53762385	53762385	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr19:53762385delC	uc002qbi.2	+	0	841	c.757delC	c.(757-759)cttfs	p.L253fs		NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN	Homo sapiens vomeronasal 1 receptor 2 (VN1R2), mRNA.	253					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		TTCTGCCCCACTTAGTGATGA	0.433													10	159	---	---	---	---					
TMPRSS2	7113	broad.mit.edu	37	21	42843790	42843791	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr21:42843790_42843791insG	uc010gor.3	-	9	1189_1190	c.1128_1129insC	c.(1126-1131)tccaagfs	p.S376fs	TMPRSS2_uc002yzj.3_Frame_Shift_Ins_p.S339fs|TMPRSS2_uc010gos.1_Frame_Shift_Ins_p.S339fs	NM_001135099	NP_005647	O15393	TMPS2_HUMAN	Homo sapiens transmembrane protease, serine 2 (TMPRSS2), transcript variant 1, mRNA.	339	Peptidase S1.				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				TTCTTGGTCTTGGAGTCATAAT	0.460			T	"""ERG, ETV1, ETV4, ETV5"""	prostate								14	130	---	---	---	---					
XBP1	7494	broad.mit.edu	37	22	29196498	29196499	+	In_Frame_Ins	INS	-	-	GCC			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr22:29196498_29196499insGCC	uc021wnp.1	-	0	62_63	c.14_15insGGC	c.(13-15)gca>gcGGCa	p.5_5A>AA		NM_001079539	NP_001073007	P17861	XBP1_HUMAN	Homo sapiens X-box binding protein 1 (XBP1), transcript variant 2, mRNA.	5					immune response	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|large_intestine(1)|lung(1)	5						TCGGCGCGGCTGCCACCACCAC	0.762													4	7	---	---	---	---					
