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
LIX1	167410	broad.mit.edu	37	5	96443096	96443096	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr5:96443096C>T	ENST00000274382.4	-	3	650	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	CTD-2215E18.1_ENST00000509481.1_Intron	NM_153234.4	NP_694966.3	Q8N485	LIX1_HUMAN	Lix1 homolog (chicken)	119										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		TGAACACTTTCCATAATGAAT	0.527000													51	51					0	0	0.000147903	0	0
CORO7	79585	broad.mit.edu	37	16	4412724	4412724	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr16:4412724G>A	ENST00000251166.4	-	15	1436	c.1291C>T	c.(1291-1293)Cct>Tct	p.P431S	CORO7_ENST00000539968.1_Missense_Mutation_p.P211S|CORO7_ENST00000423908.2_Missense_Mutation_p.P263S|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.P431S|CORO7_ENST00000574025.1_Missense_Mutation_p.P346S|CORO7_ENST00000537233.2_Missense_Mutation_p.P413S	NM_024535.4	NP_078811.3			coronin 7											breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						GAACTGGGAGGGGAAGAGAAA	0.667000													5	6					0	0	1.23904e-05	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32891002	32891002	+	RNA	SNP	C	C	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr16:32891002C>T	ENST00000330048.5	-	0	2964					NR_003083.2																						GTGCCACTGGCTGAGTAGTAG	0.622000													20	19					0	0	0.000229342	0	0
LY86	9450	broad.mit.edu	37	6	6589096	6589096	+	Silent	SNP	G	G	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr6:6589096G>A	ENST00000379953.2	+	2	481	c.129G>A	c.(127-129)caG>caA	p.Q43Q	LY86-AS1_ENST00000429345.1_RNA|LY86_ENST00000230568.4_Silent_p.Q43Q|LY86-AS1_ENST00000435641.1_RNA			O95711	LY86_HUMAN	lymphocyte antigen 86	43					apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane				large_intestine(2)|lung(6)	8	Ovarian(93;0.0377)					TGCTCTACCAGAGTTGCGGTA	0.582000													16	65					0	0	5.01169e-05	0	0
MCM4	4173	broad.mit.edu	37	8	48883186	48883186	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr8:48883186C>T	ENST00000262105.2	+	11	1759	c.1550C>T	c.(1549-1551)tCc>tTc	p.S517F	MCM4_ENST00000523944.1_Missense_Mutation_p.S517F|MCM4_ENST00000518680.1_3'UTR	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	517	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				ACCAGCAAGTCCCAGCTGCTG	0.557000													21	21					0	0	0.000295444	0	0
BAHCC1	57597	broad.mit.edu	37	17	79412403	79412403	+	Silent	SNP	G	G	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr17:79412403G>A	ENST00000307745.7	+	14	2859	c.2859G>A	c.(2857-2859)ctG>ctA	p.L953L																								ACCAGCACCTGGATCTGGAGG	0.687000													8	4					0	0	2.17888e-05	0	0
PRAME	23532	broad.mit.edu	37	22	22890563	22890563	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr22:22890563G>A	ENST00000543184.1	-	5	2318	c.1456C>T	c.(1456-1458)Ccc>Tcc	p.P486S	PRAME_ENST00000539862.1_Missense_Mutation_p.P470S|PRAME_ENST00000398743.2_Missense_Mutation_p.P486S|PRAME_ENST00000424204.2_Missense_Mutation_p.P470S|PRAME_ENST00000405655.3_Missense_Mutation_p.P486S|PRAME_ENST00000398741.1_Missense_Mutation_p.P486S|PRAME_ENST00000402697.1_Missense_Mutation_p.P486S	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	486	Mediates interaction with RARA.				apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		TGAGGACAGGGGTTGGCACTA	0.572000													49	55					0	0	0.000147903	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101709073	101709073	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr5:101709073C>T	ENST00000506729.1	-	13	2314	c.2143G>A	c.(2143-2145)Gaa>Aaa	p.E715K	SLCO6A1_ENST00000379807.3_Missense_Mutation_p.E715K|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.E462K|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.E653K|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.E462K			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	715						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TCAGTTTCTTCTTTTTTCTTA	0.274000													36	62					0	0	0.000106405	0	0
FBN1	2200	broad.mit.edu	37	15	48780580	48780580	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr15:48780580C>T	ENST00000316623.5	-	26	3648	c.3193G>A	c.(3193-3195)Gaa>Aaa	p.E1065K		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	1065	EGF-like 15; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CAGTTCCTTTCTTCAGAATCA	0.473000													54	64					0	0	0.000147903	0	0
HMGB4	127540	broad.mit.edu	37	1	34330054	34330054	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr1:34330054C>G	ENST00000522796.1	+	4	2167	c.262C>G	c.(262-264)Cgg>Ggg	p.R88G	HMGB4_ENST00000519684.1_Missense_Mutation_p.R88G|CSMD2_ENST00000373381.4_Intron|HMGB4_ENST00000425537.1_3'UTR			B2R4X7	B2R4X7_HUMAN	high mobility group box 4	88						nucleus	DNA binding			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				ACGGAGAAAGCGGGATCCCCA	0.517000													24	62					0	0	0.000117367	0	0
HYDIN	54768	broad.mit.edu	37	16	70926303	70926303	+	Silent	SNP	C	C	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr16:70926303C>T	ENST00000393567.2	-	56	9528	c.9378G>A	c.(9376-9378)aaG>aaA	p.K3126K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3126										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TCTTCACTTCCTTTTTTGCAT	0.473000													29	87					0	0	8.91981e-05	0	0
HRNR	388697	broad.mit.edu	37	1	152191328	152191328	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr1:152191328G>A	ENST00000368801.2	-	3	2852	c.2777C>T	c.(2776-2778)tCa>tTa	p.S926L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	926					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACTGGCCTGAGCCAGACCC	0.607000													9	249					0	0	0.000295444	0	0
OR8I2	120586	broad.mit.edu	37	11	55860936	55860936	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr11:55860936G>A	ENST00000302124.2	+	1	184	c.153G>A	c.(151-153)atG>atA	p.M51I	OR8I2_ENST00000560768.1_Missense_Mutation_p.M51I			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TAATCAGAATGGATTCTCAGC	0.368000													69	87					0	0	0.000147903	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1989001	1989001	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr12:1989001G>A	ENST00000382722.5	-	14	1894	c.1532C>T	c.(1531-1533)gCc>gTc	p.A511V	CACNA2D4_ENST00000585708.1_Missense_Mutation_p.A447V|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.A447V|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.A511V|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.A511V|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.A396V	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	511	Cache.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GACTGGCATGGCCACAGTGGT	0.582000													6	4					0	0	0.000157383	0	0
ERCC6-PGBD3	101243544	broad.mit.edu	37	10	50724287	50724287	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr10:50724287G>A	ENST00000515869.1	-	6	2398	c.2278C>T	c.(2278-2280)Cgg>Tgg	p.R760W	ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.R760W|PGBD3_ENST00000374127.3_Missense_Mutation_p.R292W|PGBD3_ENST00000603152.1_Missense_Mutation_p.R760W|ERCC6_ENST00000355832.5_Intron|PGBD3_ENST00000508005.2_Missense_Mutation_p.R292W	NM_001277059.1	NP_001263988.1																					TAGCCAAACCGAATGGGCTTT	0.408000													19	2					0	0	0.000229342	0	0
CCR4	1233	broad.mit.edu	37	3	32995259	32995259	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr3:32995259G>A	ENST00000330953.5	+	2	513	c.345G>A	c.(343-345)tgG>tgA	p.W115*		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	115					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						TGATTTCCTGGATGTACTTGG	0.483000													117	124					0	0	0.000147903	0	0
LRP2	4036	broad.mit.edu	37	2	170002377	170002377	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr2:170002377C>T	ENST00000263816.3	-	70	13153	c.12868G>A	c.(12868-12870)Gaa>Aaa	p.E4290K		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4290					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TCTCCCTTTTCCTTAGATATC	0.398000													20	24					0	0	9.7654e-05	0	0
PLCE1	51196	broad.mit.edu	37	10	96073071	96073071	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr10:96073071C>T	ENST00000260766.3	+	28	6698	c.6064C>T	c.(6064-6066)Cca>Tca	p.P2022S	PLCE1_ENST00000371385.3_Missense_Mutation_p.P1714S|PLCE1_ENST00000371380.2_Missense_Mutation_p.P2022S|PLCE1_ENST00000371375.1_Missense_Mutation_p.P1714S	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	2022	Ras-associating 1.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GCATGGGGTCCCAGGGCCAGA	0.478000													55	6					0	0	0.000147903	0	0
HCN3	57657	broad.mit.edu	37	1	155255641	155255641	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr1:155255641G>C	ENST00000368358.3	+	6	1371	c.1363G>C	c.(1363-1365)Gtg>Ctg	p.V455L	HCN3_ENST00000496230.1_3'UTR	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	455						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGGGGATCTCGTGGTGCGTGA	0.652000													74	46					0	0	0.000147903	0	0
LMAN1L	79748	broad.mit.edu	37	15	75111605	75111605	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr15:75111605C>T	ENST00000309664.5	+	6	849	c.710C>T	c.(709-711)aCc>aTc	p.T237I	LMAN1L_ENST00000379709.3_Missense_Mutation_p.T237I	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	237	L-type lectin-like.					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCCACCGGCACCCTGGCAGGT	0.577000													41	45					0	0	8.96297e-05	0	0
SNAP91	9892	broad.mit.edu	37	6	84303449	84303449	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr6:84303449G>A	ENST00000428679.2	-	18	2037	c.1444C>T	c.(1444-1446)Ccg>Tcg	p.P482S	SNAP91_ENST00000521743.1_Missense_Mutation_p.P482S|SNAP91_ENST00000521485.1_Missense_Mutation_p.P482S|SNAP91_ENST00000520302.1_Missense_Mutation_p.P480S|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000369694.2_Missense_Mutation_p.P482S|SNAP91_ENST00000195649.6_Missense_Mutation_p.P482S|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000439399.2_Missense_Mutation_p.P482S			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	482	Ala-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		CCTTCAGACGGGGCAAAGGGG	0.498000													26	38					0	0	0.000184323	0	0
OR1F1	4992	broad.mit.edu	37	16	3254585	3254585	+	Silent	SNP	C	C	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr16:3254585C>T	ENST00000304646.2	+	1	339	c.339C>T	c.(337-339)ttC>ttT	p.F113F	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						TGGACAATTTCCTCCTAGCTG	0.502000													75	91					0	0	0.000147903	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618106	77618106	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr8:77618106C>T	ENST00000521891.2	+	2	2231	c.1783C>T	c.(1783-1785)Ccg>Tcg	p.P595S	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P595S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P595S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P595S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	595						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGGCTTTACCCCGAGTACTCC	0.587000										HNSCC(33;0.089)			25	25					0	0	7.16444e-05	0	0
EVPL	2125	broad.mit.edu	37	17	74004305	74004305	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr17:74004305C>T	ENST00000301607.3	-	22	5234	c.4981G>A	c.(4981-4983)Gac>Aac	p.D1661N	EVPL_ENST00000586740.1_Missense_Mutation_p.D1683N	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1661	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GCGTGGAGGTCCCGGAGCGTC	0.672000													23	27					0	0	0.000375601	0	0
PPIC	5480	broad.mit.edu	37	5	122361653	122361653	+	Silent	SNP	G	G	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr5:122361653G>A	ENST00000306442.4	-	4	451	c.336C>T	c.(334-336)atC>atT	p.I112I		NM_000943.4	NP_000934.1	P45877	PPIC_HUMAN	peptidylprolyl isomerase C (cyclophilin C)	112	PPIase cyclophilin-type.				protein folding|signal transduction	cytoplasm	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	L-Proline(DB00172)	TCTCACCATAGATGCTCACAC	0.463000													12	16					0	0	6.40141e-05	0	0
SLC16A7	9194	broad.mit.edu	37	12	60098690	60098690	+	Silent	SNP	C	C	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr12:60098690C>T	ENST00000261187.4	+	2	272	c.108C>T	c.(106-108)ttC>ttT	p.F36F	SLC16A7_ENST00000552432.1_Silent_p.F36F|SLC16A7_ENST00000549588.1_3'UTR|SLC16A7_ENST00000543448.1_5'UTR|SLC16A7_ENST00000549465.1_Silent_p.F36F|SLC16A7_ENST00000547379.1_Silent_p.F36F|SLC16A7_ENST00000552024.1_Silent_p.F36F	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	36						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	CCTATGCATTCCCCAAAGCTG	0.448000													31	32					0	0	0.000339439	0	0
RNF43	54894	broad.mit.edu	37	17	56440957	56440957	+	Missense_Mutation	SNP	C	C	T	rs35219874	byFrequency	TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr17:56440957C>T	ENST00000584437.1	-	3	2335	c.380G>A	c.(379-381)cGg>cAg	p.R127Q	RNF43_ENST00000577625.1_5'UTR|RNF43_ENST00000500597.2_Missense_Mutation_p.R86Q|RNF43_ENST00000583753.1_Missense_Mutation_p.R86Q|RNF43_ENST00000407977.2_Missense_Mutation_p.R127Q|RNF43_ENST00000581868.1_5'UTR|RNF43_ENST00000577716.1_Missense_Mutation_p.R127Q|BZRAP1-AS1_ENST00000583841.1_RNA			Q68DV7	RNF43_HUMAN	ring finger protein 43	127						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.R127P(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACCCGCCATCCGAGCCTGCAG	0.592000													25	24					0	0	5.49717e-05	0	0
KIF5C	3800	broad.mit.edu	37	2	149806433	149806433	+	Silent	SNP	G	G	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr2:149806433G>A	ENST00000435030.1	+	9	1163	c.795G>A	c.(793-795)gtG>gtA	p.V265V	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000397413.1_Silent_p.V33V|KIF5C_ENST00000414838.2_Silent_p.V170V			O60282	KIF5C_HUMAN	kinesin family member 5C	265	Kinesin-motor.|Microtubule-binding.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		TTGGAAATGTGATCTCTGCTT	0.443000													16	19					0	0	5.01169e-05	0	0
BAG6	7917	broad.mit.edu	37	6	31610864	31610864	+	Silent	SNP	C	C	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr6:31610864C>T	ENST00000404765.2	-	15	2074	c.1785G>A	c.(1783-1785)ccG>ccA	p.P595P	BAG6_ENST00000470875.1_5'UTR|BAG6_ENST00000375964.6_Silent_p.P565P|BAG6_ENST00000439687.2_Intron|BAG6_ENST00000362049.6_Silent_p.P559P|BAG6_ENST00000211379.5_Silent_p.P559P|BAG6_ENST00000375976.4_Silent_p.P559P			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	565	4 X 29 AA approximate repeats.|Pro-rich.				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CAGGGGCTGGCGGTGGAGCCA	0.617000													42	162					0	0	0.000125731	0	0
ABCD3	5825	broad.mit.edu	37	1	94964564	94964564	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr1:94964564C>T	ENST00000370214.4	+	19	1618	c.1594C>T	c.(1594-1596)Cag>Tag	p.Q532*	ABCD3_ENST00000454898.2_Nonsense_Mutation_p.Q556*|ABCD3_ENST00000536817.1_Nonsense_Mutation_p.Q459*|ABCD3_ENST00000394233.2_Nonsense_Mutation_p.Q422*|ABCD3_ENST00000484213.1_3'UTR	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	532	ABC transporter.				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		ACGAGAAGATCAGAAAAGGAA	0.348000													76	89					0	0	0.000147903	0	0
KCNK1	3775	broad.mit.edu	37	1	233802615	233802615	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr1:233802615G>A	ENST00000366621.3	+	2	798	c.630G>A	c.(628-630)tgG>tgA	p.W210*	KCNK1_ENST00000366620.1_Nonsense_Mutation_p.W94*|KCNK1_ENST00000472190.1_3'UTR	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	210						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	AGGATGACTGGAACTTCCTGG	0.507000													71	45					0	0	0.000147903	0	0
MUC16	94025	broad.mit.edu	37	19	9065721	9065721	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr19:9065721G>A	ENST00000397910.4	-	3	21928	c.21725C>T	c.(21724-21726)tCc>tTc	p.S7242F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7244	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTCAGGGAGGAAATTGACTC	0.468000													66	88					0	0	0.000147903	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140754153	140754153	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr5:140754153A>T	ENST00000517434.1	+	1	503	c.503A>T	c.(502-504)cAg>cTg	p.Q168L	PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACTCCCTTCAGGGATTTAAG	0.507000													17	16					0	0	5.01169e-05	0	0
RASGRP3	25780	broad.mit.edu	37	2	33745056	33745056	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr2:33745056C>T	ENST00000403687.3	+	5	951	c.211C>T	c.(211-213)Cga>Tga	p.R71*	RASGRP3_ENST00000407811.1_Nonsense_Mutation_p.R71*|RASGRP3_ENST00000402538.3_Nonsense_Mutation_p.R71*	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	71	N-terminal Ras-GEF.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					CAATGAATTTCGATTAAAGAT	0.383000													15	13					0	0	0.000175454	0	0
HRNR	388697	broad.mit.edu	37	1	152191323	152191323	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr1:152191323G>C	ENST00000368801.2	-	3	2857	c.2782C>G	c.(2782-2784)Cag>Gag	p.Q928E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	928					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGAAGACTGGCCTGAGCCA	0.607000													9	263					0	0	0.000295444	0	0
CC2D2B	387707	broad.mit.edu	37	10	97775979	97775979	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr10:97775979G>A	ENST00000344386.3	+	6	594	c.430G>A	c.(430-432)Gga>Aga	p.G144R	CC2D2B_ENST00000410012.2_Missense_Mutation_p.G144R|RP11-690P14.4_ENST00000475252.2_Intron|ENTPD1-AS1_ENST00000454638.1_RNA|CC2D2B_ENST00000371198.2_Intron|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	144										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		TTTAGCTATCGGAAATAAGGA	0.418000													24	4					0	0	7.16444e-05	0	0
MTHFD2P1	100287639	broad.mit.edu	37	3	95374381	95374381	+	RNA	SNP	C	C	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr3:95374381C>T	ENST00000494840.1	-	0	1480					NR_077228.1																						GTCCTACATTCATTACAGGAA	0.463000													25	20					0	0	0.000117367	0	0
UGT3A1	133688	broad.mit.edu	37	5	35954490	35954490	+	Silent	SNP	G	G	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr5:35954490G>A	ENST00000274278.3	-	7	1743	c.1386C>T	c.(1384-1386)atC>atT	p.I462I		NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	462						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGTCTGGAGGATGTGGTCGA	0.612000													14	15					0	0	0.000219431	0	0
ZNF385D	79750	broad.mit.edu	37	3	21467028	21467028	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr3:21467028C>T	ENST00000281523.2	-	6	1326	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	270						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TCACAGATTTCACAGTGAAAT	0.433000													63	58					0	0	0.000147903	0	0
TRIM26	7726	broad.mit.edu	37	6	30156976	30156976	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr6:30156976C>T	ENST00000454678.2	-	9	1341	c.904_splice	c.e9-1	p.G302_splice	TRIM26_ENST00000453195.1_Splice_Site_p.G302_splice|TRIM26_ENST00000437089.1_Splice_Site_p.G302_splice	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	302	B30.2/SPRY.						DNA binding|zinc ion binding			lung(1)|ovary(2)	3						CAGCAGCTTCCCTGGGGAGAA	0.443000													37	118					0	0	0.000191422	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64594850	64594850	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr11:64594850G>A	ENST00000342711.5	-	33	4170	c.4171C>T	c.(4171-4173)Ccg>Tcg	p.P1391S		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1391					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						GTGAGGTCCGGGATGTCGAAC	0.632000													48	59					0	0	0.000147903	0	0
OR2W5	441932	broad.mit.edu	37	1	247654438	247654438	+	RNA	SNP	G	G	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr1:247654438G>A	ENST00000522351.1	+	0	69							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TTATGGGAAAGGACAATGCCA	0.453000													63	47					0	0	0.000147903	0	0
CDH12	1010	broad.mit.edu	37	5	21842363	21842363	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr5:21842363C>T	ENST00000382254.1	-	8	1807	c.721G>A	c.(721-723)Gat>Aat	p.D241N	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.D201N|CDH12_ENST00000504376.2_Missense_Mutation_p.D241N	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	241	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CCTCCCATATCCTTGGCTTGG	0.413000										HNSCC(59;0.17)			42	54					0	0	0.000374591	0	0
CCDC148	130940	broad.mit.edu	37	2	159035397	159035397	+	Silent	SNP	C	C	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr2:159035397C>T	ENST00000283233.5	-	12	1795	c.1482G>A	c.(1480-1482)agG>agA	p.R494R	CCDC148-AS1_ENST00000412781.2_RNA|CCDC148_ENST00000409187.1_Silent_p.R503R	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	494										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						ACACCTGTTTCCTAAGGGCTT	0.393000													28	42					0	0	0.000184323	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													5	35					0	0	1.23904e-05	0	0
CHST12	55501	broad.mit.edu	37	7	2472823	2472823	+	Silent	SNP	C	C	T	rs150939856		TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr7:2472823C>T	ENST00000258711.6	+	2	684	c.549C>T	c.(547-549)atC>atT	p.I183I		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	183					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		GCGTGATGATCGTGCTGAGCG	0.677000													26	27					0	0	0.000117367	0	0
EDEM2	55741	broad.mit.edu	37	20	33706361	33706361	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr20:33706361G>A	ENST00000540582.1	-	14	1874	c.1153C>T	c.(1153-1155)Ccc>Tcc	p.P385S	EDEM2_ENST00000542871.1_Intron|EDEM2_ENST00000374492.3_Intron|EDEM2_ENST00000374491.2_Intron|EDEM2_ENST00000541621.1_Intron			Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	0					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			AGCAGCAAGGGGAGACTCTTC	0.448000													12	14					0	0	0.000308642	0	0
KCNH7	90134	broad.mit.edu	37	2	163302839	163302839	+	Silent	SNP	G	G	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr2:163302839G>A	ENST00000332142.5	-	7	1342	c.1243C>T	c.(1243-1245)Ctg>Ttg	p.L415L	KCNH7_ENST00000328032.4_Silent_p.L408L	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	415					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	ACCAACAGCAGGATAAGCCAG	0.453000													20	38					0	0	0.000132079	0	0
NPAS2	4862	broad.mit.edu	37	2	101609880	101609880	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr2:101609880C>T	ENST00000335681.5	+	20	2468	c.2183C>T	c.(2182-2184)cCc>cTc	p.P728L	NPAS2_ENST00000542504.1_Missense_Mutation_p.P793L	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	728					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCCCCGATGCCCGTCCTGCTG	0.657000													7	16					0	0	8.12818e-05	0	0
TEKT2	27285	broad.mit.edu	37	1	36550643	36550643	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr1:36550643G>A	ENST00000207457.3	+	2	248	c.121G>A	c.(121-123)Gag>Aag	p.E41K		NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN	tektin 2 (testicular)	41					cell projection organization|microtubule cytoskeleton organization	actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GATCCGCCAGGAGGCCCGGGT	0.617000													13	20					0	0	0.000308642	0	0
WNK2	65268	broad.mit.edu	37	9	95993351	95993351	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr9:95993351G>A	ENST00000297954.4	+	3	1036	c.1036G>A	c.(1036-1038)Gcc>Acc	p.A346T	WNK2_ENST00000427277.2_5'UTR|WNK2_ENST00000395475.2_Missense_Mutation_p.A332T|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000349097.3_5'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.A346T			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	346	Protein kinase.				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CTTGGGCCTGGCCACTCTGAA	0.537000													70	87					0	0	0.000147903	0	0
CLEC4C	170482	broad.mit.edu	37	12	7882210	7882210	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr12:7882210C>T	ENST00000542353.1	-	7	1114	c.624G>A	c.(622-624)atG>atA	p.M208I	CLEC4C_ENST00000540085.1_Missense_Mutation_p.M177I|CLEC4C_ENST00000354629.5_Missense_Mutation_p.M177I|CLEC4C_ENST00000360345.3_Missense_Mutation_p.M208I	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	208					innate immune response	integral to membrane	sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		AGATCTTCTTCATCTTGCAAA	0.363000													25	33					0	0	7.16444e-05	0	0
GPR20	2843	broad.mit.edu	37	8	142367088	142367088	+	Silent	SNP	G	G	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr8:142367088G>A	ENST00000377741.3	-	2	1026	c.936C>T	c.(934-936)ttC>ttT	p.F312F		NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	312						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			CGTGCTGGCCGAAGAGGCCTC	0.652000													30	44					0	0	0.000227799	0	0
RYR2	6262	broad.mit.edu	37	1	237947253	237947253	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr1:237947253G>A	ENST00000366574.2	+	90	12558	c.12241G>A	c.(12241-12243)Gaa>Aaa	p.E4081K	RYR2_ENST00000360064.6_Missense_Mutation_p.E4087K|RYR2_ENST00000542537.1_Missense_Mutation_p.E4065K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4081					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCTCGACTACGAAGAGTTCGT	0.517000													7	27					0	0	2.17888e-05	0	0
PCSK5	5125	broad.mit.edu	37	9	78547391	78547391	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr9:78547391G>A	ENST00000545128.1	+	2	827	c.289G>A	c.(289-291)Gaa>Aaa	p.E97K	PCSK5_ENST00000376767.3_Missense_Mutation_p.E97K|PCSK5_ENST00000376752.4_Missense_Mutation_p.E97K	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	97					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CATTTCAATGGAACCAAAGGT	0.478000													25	30					0	0	9.22233e-05	0	0
BAZ2A	11176	broad.mit.edu	37	12	56994245	56994245	+	Silent	SNP	G	G	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr12:56994245G>A	ENST00000179765.5	-	25	4741	c.4542C>T	c.(4540-4542)acC>acT	p.T1514T	BAZ2A_ENST00000551812.1_Silent_p.T1546T|BAZ2A_ENST00000549884.1_Silent_p.T1544T|BAZ2A_ENST00000379441.3_Silent_p.T1516T			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1546					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						AGTCTTCACGGGTAGAGTCTG	0.498000													35	48					0	0	0.000191422	0	0
CD1E	913	broad.mit.edu	37	1	158325920	158325920	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr1:158325920G>A	ENST00000434258.1	+	4	934	c.923G>A	c.(922-924)tGg>tAg	p.W308*	CD1E_ENST00000368155.3_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368161.3_Intron|CD1E_ENST00000368160.3_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368167.3_Intron|CD1E_ENST00000368165.3_Intron			P15812	CD1E_HUMAN	CD1e molecule	0					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					AGGCTCTGCTGGGAAATAATG	0.507000													43	22					0	0	0.000374591	0	0
CSMD1	64478	broad.mit.edu	37	8	2823455	2823455	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr8:2823455C>T	ENST00000520002.1	-	60	9680	c.9125G>A	c.(9124-9126)gGc>gAc	p.G3042D	CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000537824.1_Missense_Mutation_p.G3041D|CSMD1_ENST00000602557.1_Missense_Mutation_p.G3042D|CSMD1_ENST00000400186.3_Intron			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3042	Sushi 24.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGCTAGTGTGCCTGGATCCCC	0.413000													5	9					0	0	3.59834e-05	0	0
PHYKPL	85007	broad.mit.edu	37	5	177649539	177649539	+	Silent	SNP	G	G	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr5:177649539G>A	ENST00000308158.5	-	8	978	c.744C>T	c.(742-744)atC>atT	p.I248I	PHYKPL_ENST00000481811.1_Intron	NM_153373.2	NP_699204.1			5-phosphohydroxy-L-lysine phospho-lyase																		AGCCAACCTGGATCTCATCTG	0.577000													32	49					0	0	0.000159656	0	0
TRBV5-6	28609	broad.mit.edu	37	7	142131446	142131446	+	RNA	SNP	C	C	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr7:142131446C>T	ENST00000390375.2	-	0	349																											GGGCCGAGTCCCCCAGCAACA	0.517000													47	44					0	0	0.000147903	0	0
PLIN4	729359	broad.mit.edu	37	19	4511545	4511545	+	Silent	SNP	C	C	T	rs71263980		TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr19:4511545C>T	ENST00000301286.3	-	3	2384	c.2385G>A	c.(2383-2385)gtG>gtA	p.V795V		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	795	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CCCCCTTGGCCACATTCGCAG	0.612000													30	65					0	0	0.000279167	0	0
EDDM3A	10876	broad.mit.edu	37	14	21215867	21215867	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr14:21215867G>A	ENST00000326842.2	+	2	255	c.128G>A	c.(127-129)cGa>cAa	p.R43Q		NM_006683.4	NP_006674.2	Q14507	EP3A_HUMAN	epididymal protein 3A	43					sperm displacement	extracellular space				breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						AGTCCAAGTCGAGAATTCAAA	0.373000													41	4					0	0	0.000374591	0	0
PDE6B	5158	broad.mit.edu	37	4	647869	647869	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr4:647869G>A	ENST00000255622.6	+	5	896	c.852_splice	c.e5-1	p.E285_splice	RP11-1191J2.2_ENST00000468356.1_RNA|RP11-1191J2.2_ENST00000489312.1_RNA|PDE6B_ENST00000429163.2_Splice_Site_p.E6_splice|PDE6B_ENST00000496514.1_Splice_Site_p.E285_splice	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	285	GAF 2.				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						CTCTGCCCAGGAATTTTTTGA	0.662000													23	29					0	0	0.000117367	0	0
PZP	5858	broad.mit.edu	37	12	9322148	9322148	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr12:9322148G>A	ENST00000261336.2	-	16	1907	c.1879C>T	c.(1879-1881)Cct>Tct	p.P627S	PZP_ENST00000381997.2_Missense_Mutation_p.P496S	NM_002864.2	NP_002855.2			pregnancy-zone protein									p.P496S(1)|p.P627S(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						ACATTGTCAGGAAAATTGGTG	0.418000													18	33					0	0	0.000229342	0	0
OR51A2	401667	broad.mit.edu	37	11	4976682	4976682	+	Silent	SNP	G	G	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr11:4976682G>A	ENST00000380371.1	-	1	261	c.262C>T	c.(262-264)Ctg>Ttg	p.L88L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCATTGAACAGGAAGATGCTT	0.468000													47	4					0	0	0.000147903	0	0
SPATA6L	55064	broad.mit.edu	37	9	4635291	4635291	+	Missense_Mutation	SNP	G	G	A	rs114679598	by1000genomes	TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr9:4635291G>A	ENST00000454239.2	-	5	580	c.335C>T	c.(334-336)aCg>aTg	p.T112M	SPATA6L_ENST00000223517.5_5'UTR|SPATA6L_ENST00000475086.1_Intron|SPATA6L_ENST00000381895.5_De_novo_Start_InFrame|SPATA6L_ENST00000381890.5_Missense_Mutation_p.T126M			B4DIY4	B4DIY4_HUMAN	spermatogenesis associated 6-like	53																	ACCCAGAGCCGTCTTCATGAG	0.483000													14	32					0	0	5.01169e-05	0	0
MYH1	4619	broad.mit.edu	37	17	10411975	10411975	+	Silent	SNP	G	G	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr17:10411975G>A	ENST00000226207.5	-	16	1696	c.1602C>T	c.(1600-1602)ttC>ttT	p.F534F	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	534	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CCAGGATGGAGAAGATGCCCA	0.393000													41	46					0	0	0.000106405	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20488878	20488878	+	RNA	SNP	G	G	C			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr15:20488878G>C	ENST00000555186.1	+	0	361					NR_038836.1																						CCGTGCTGTGGACTGCTGGAG	0.443000													6	64					0	0	2.17888e-05	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18800840	18800840	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr12:18800840G>A	ENST00000433979.1	+	32	4332	c.4216G>A	c.(4216-4218)Gga>Aga	p.G1406R	PIK3C2G_ENST00000266497.5_Missense_Mutation_p.G1406R|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.G1447R	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1406	C2.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				AGAGCTCCAAGGACATGTCTT	0.338000													13	12					0	0	0.000308642	0	0
OR6C1	390321	broad.mit.edu	37	12	55715321	55715321	+	Silent	SNP	G	G	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr12:55715321G>A	ENST00000379668.2	+	1	976	c.938G>A	c.(937-939)tGa>tAa	p.*313*		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						ACAAGCACATGAAATGGTATG	0.403000													32	36					0	0	0.000227799	0	0
ZADH2	284273	broad.mit.edu	37	18	72914190	72914190	+	Silent	SNP	C	C	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr18:72914190C>T	ENST00000322342.3	-	2	604	c.315G>A	c.(313-315)gtG>gtA	p.V105V	ZADH2_ENST00000537114.2_5'UTR	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2	105						peroxisome	oxidoreductase activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		GGCCTAGGGCCACCACCTCCC	0.527000													55	62					0	0	0.000147903	0	0
MORC1	27136	broad.mit.edu	37	3	108813812	108813812	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr3:108813812G>A	ENST00000232603.5	-	7	609	c.527C>T	c.(526-528)cCa>cTa	p.P176L	MORC1_ENST00000483760.1_Missense_Mutation_p.P176L	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	176					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AGTTTTAAATGGGGAGTATTT	0.343000													21	26					0	0	0.000175454	0	0
RFPL4B	442247	broad.mit.edu	37	6	112671403	112671403	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr6:112671403G>A	ENST00000441065.2	+	3	805	c.493G>A	c.(493-495)Gag>Aag	p.E165K		NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	165	B30.2/SPRY.						zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		CGTCTGCAAGGAGCCGGCTGA	0.552000													32	43					0	0	0.000339439	0	0
SRRM4	84530	broad.mit.edu	37	12	119568628	119568628	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr12:119568628G>A	ENST00000267260.4	+	8	1148	c.760G>A	c.(760-762)Gcc>Acc	p.A254T	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	254	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CTACCTGTCAGCCAGGGGTGT	0.607000													4	11					0	0	1.23904e-05	0	0
TUBBP1	92755	broad.mit.edu	37	8	30210251	30210251	+	RNA	SNP	C	C	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr8:30210251C>T	ENST00000518096.1	+	0	863																											CTCCGCTTCCCTGGCCAGCTC	0.557000													31	23					0	0	0.000409698	0	0
ACSM1	116285	broad.mit.edu	37	16	20681305	20681305	+	Silent	SNP	C	C	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr16:20681305C>T	ENST00000307493.4	-	5	823	c.756G>A	c.(754-756)agG>agA	p.R252R	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Silent_p.R252R	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	252					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TCCGTAATTTCCTACTAACTC	0.512000													9	11					0	0	3.86212e-05	0	0
RFX6	222546	broad.mit.edu	37	6	117248601	117248601	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr6:117248601C>T	ENST00000332958.2	+	17	2313	c.2297C>T	c.(2296-2298)tCa>tTa	p.S766L		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	766					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GCCCAGGATTCACACAATATG	0.502000													25	29					0	0	5.49717e-05	0	0
SEMA3E	9723	broad.mit.edu	37	7	82997096	82997096	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr7:82997096C>T	ENST00000307792.3	-	17	2601	c.2134G>A	c.(2134-2136)Gaa>Aaa	p.E712K	SEMA3E_ENST00000427262.1_Missense_Mutation_p.E652K	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	712					axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TGCAAGAATTCCTTGTACCAT	0.458000													43	62					0	0	0.000437636	0	0
DPP10	57628	broad.mit.edu	37	2	116510813	116510813	+	Silent	SNP	C	C	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr2:116510813C>T	ENST00000410059.1	+	11	1494	c.1014C>T	c.(1012-1014)aaC>aaT	p.N338N	DPP10_ENST00000310323.8_Silent_p.N331N|DPP10_ENST00000393147.2_Silent_p.N342N|DPP10_ENST00000409163.1_Silent_p.N288N	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	338					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GATGGTTAAACCGAGCTCAGA	0.348000													26	29					0	0	9.22233e-05	0	0
DNAH5	1767	broad.mit.edu	37	5	13820543	13820543	+	Silent	SNP	C	C	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr5:13820543C>T	ENST00000265104.4	-	41	6857	c.6753G>A	c.(6751-6753)acG>acA	p.T2251T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2251	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.T2251T(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCACTCTCTGCGTTTCGAATA	0.507000									Kartagener syndrome				19	26					0	0	9.7654e-05	0	0
ANKS1A	23294	broad.mit.edu	37	6	34985592	34985592	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr6:34985592C>T	ENST00000360359.3	+	11	1904	c.1766C>T	c.(1765-1767)tCt>tTt	p.S589F	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	589						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CACACAGCATCTCCGCACCCT	0.627000													77	123					0	0	0.000147903	0	0
CILP	8483	broad.mit.edu	37	15	65490487	65490487	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr15:65490487C>T	ENST00000261883.4	-	9	2303	c.2137G>A	c.(2137-2139)Gat>Aat	p.D713N		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	713					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						AATTTGAAATCACCTTCCTCC	0.493000													50	43					0	0	0.000147903	0	0
CDK6	1021	broad.mit.edu	37	7	92355060	92355060	+	Silent	SNP	G	G	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr7:92355060G>A	ENST00000265734.4	-	4	828	c.417C>T	c.(415-417)caC>caT	p.H139H	CDK6_ENST00000424848.2_Silent_p.H139H	NM_001259.6	NP_001250.1	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	139	Protein kinase.				cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			GCACTACTCGGTGTGAATGAA	0.423000			T	MLLT10	ALL								92	78					0	0	0.000147903	0	0
C12orf43	64897	broad.mit.edu	37	12	121442834	121442834	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr12:121442834G>A	ENST00000445832.3	-	5	436	c.334C>T	c.(334-336)Cgc>Tgc	p.R112C	C12orf43_ENST00000366211.2_Missense_Mutation_p.R100C|C12orf43_ENST00000288757.3_Missense_Mutation_p.R142C|C12orf43_ENST00000539736.1_Missense_Mutation_p.R131C|C12orf43_ENST00000537817.1_Missense_Mutation_p.R143C|C12orf43_ENST00000536407.2_Intron			Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	142										cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CGCTTTCGGCGGGGTTGGGGA	0.527000													131	156					0	0	0.000147903	0	0
CDHR2	54825	broad.mit.edu	37	5	176016402	176016402	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr5:176016402C>T	ENST00000510636.1	+	23	3354	c.3080C>T	c.(3079-3081)tCc>tTc	p.S1027F	CDHR2_ENST00000261944.5_Missense_Mutation_p.S1027F|CDHR2_ENST00000506348.1_Missense_Mutation_p.S1027F	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1027	Cadherin 9.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GACAGACCTTCCTTGGGTCCT	0.662000													36	54					0	0	0.000159656	0	0
EVPL	2125	broad.mit.edu	37	17	74004306	74004306	+	Silent	SNP	C	C	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr17:74004306C>T	ENST00000301607.3	-	22	5233	c.4980G>A	c.(4978-4980)cgG>cgA	p.R1660R	EVPL_ENST00000586740.1_Silent_p.R1682R	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1660	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CGTGGAGGTCCCGGAGCGTCC	0.667000													23	27					0	0	0.000375601	0	0
NEK5	341676	broad.mit.edu	37	13	52678636	52678636	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr13:52678636G>A	ENST00000355568.4	-	9	746	c.607C>T	c.(607-609)Cct>Tct	p.P203S		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	203	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		ATACTTACAGGATGTTTAAGT	0.318000													95	116					0	0	0.000147903	0	0
CYP8B1	1582	broad.mit.edu	37	3	42917159	42917159	+	Silent	SNP	C	C	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr3:42917159C>T	ENST00000316161.4	-	1	474	c.150G>A	c.(148-150)cgG>cgA	p.R50R	KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000471537.1_Intron|CYP8B1_ENST00000437102.1_Silent_p.R50R	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	50					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		ACATATTCTTCCGGAAAGCCA	0.582000													13	35					0	0	0.000308642	0	0
SLC46A3	283537	broad.mit.edu	37	13	29278231	29278231	+	Silent	SNP	G	G	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr13:29278231G>A	ENST00000266943.6	-	5	1519	c.1150C>T	c.(1150-1152)Ctg>Ttg	p.L384L	SLC46A3_ENST00000380814.4_Silent_p.L384L|SLC46A3_ENST00000475385.1_5'UTR	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	384					transmembrane transport	integral to membrane		p.L384M(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		CAAGCAAACAGGGTACCTGTT	0.388000													54	60					0	0	0.000147903	0	0
GTDC1	79712	broad.mit.edu	37	2	144710388	144710388	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr2:144710388A>G	ENST00000409214.1	-	10	1431	c.1153T>C	c.(1153-1155)Tgt>Cgt	p.C385R	GTDC1_ENST00000542155.1_Missense_Mutation_p.C385R|GTDC1_ENST00000344850.4_Missense_Mutation_p.C385R|AC016910.1_ENST00000422799.1_RNA|GTDC1_ENST00000241391.5_Missense_Mutation_p.C300R|GTDC1_ENST00000392867.3_Missense_Mutation_p.C300R|GTDC1_ENST00000392869.1_Missense_Mutation_p.C385R|GTDC1_ENST00000463875.2_Missense_Mutation_p.C256R|GTDC1_ENST00000409298.1_Missense_Mutation_p.C267R	NM_001006636.3	NP_001006637.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	385					biosynthetic process		transferase activity, transferring glycosyl groups			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		AGTGGGTAACACCCACAGTAC	0.333000													70	90					0	0	0.000147903	0	0
MEP1A	4224	broad.mit.edu	37	6	46806764	46806764	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr6:46806764C>T	ENST00000230588.4	+	14	2141	c.2132C>T	c.(2131-2133)gCc>gTc	p.A711V		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	711				AVQ -> SAE (in Ref. 1; AAA21338 and 7; no nucleotide entry).	digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CGCTGTCAGGCCGTGCAGGTG	0.592000													47	238					0	0	0.000147903	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				33	48					0	0	0.000159656	0	0
CHDC2	286464	broad.mit.edu	37	X	36091273	36091273	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chrX:36091273G>A	ENST00000378660.1	+	4	396	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K	CHDC2_ENST00000313548.4_Missense_Mutation_p.E70K					calponin homology domain containing 2																		AGTACTGCCTGAAAATTTGCA	0.348000													25	0					0	0	5.49717e-05	0	0
SNTG1	54212	broad.mit.edu	37	8	51705237	51705237	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr8:51705237G>A	ENST00000522124.1	+	19	2063	c.1402G>A	c.(1402-1404)Gaa>Aaa	p.E468K	SNTG1_ENST00000276467.5_Missense_Mutation_p.E431K|SNTG1_ENST00000517473.1_Missense_Mutation_p.E431K|SNTG1_ENST00000518864.1_Missense_Mutation_p.E468K	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	468					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TCAGGAGTTGGAATTTTCTAA	0.318000													42	76					0	0	0.000147903	0	0
PXK	54899	broad.mit.edu	37	3	58395340	58395340	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr3:58395340C>T	ENST00000463280.1	+	13	1382	c.1291C>T	c.(1291-1293)Cga>Tga	p.R431*	PXK_ENST00000356151.2_Nonsense_Mutation_p.R464*|PXK_ENST00000536660.1_Nonsense_Mutation_p.R327*|PXK_ENST00000383715.4_Nonsense_Mutation_p.R447*|PXK_ENST00000484288.1_Nonsense_Mutation_p.R464*|PXK_ENST00000479241.1_Nonsense_Mutation_p.R447*|PXK_ENST00000302779.5_Nonsense_Mutation_p.R447*|PXK_ENST00000383716.3_Nonsense_Mutation_p.R431*			Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase	464	Protein kinase.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		GATTTTAGCTCGAAAGGTAAG	0.418000													7	5					0	0	8.12818e-05	0	0
PCDH18	54510	broad.mit.edu	37	4	138451637	138451637	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr4:138451637C>T	ENST00000344876.4	-	1	1992	c.1606G>A	c.(1606-1608)Gaa>Aaa	p.E536K	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.E316K|PCDH18_ENST00000412923.2_Missense_Mutation_p.E536K	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	536	Cadherin 5.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CTCACTTCTTCATGATCAAAG	0.428000													47	73					0	0	0.000147903	0	0
PQLC1	80148	broad.mit.edu	37	18	77679243	77679243	+	Silent	SNP	G	G	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr18:77679243G>A	ENST00000397778.2	-	5	731	c.549C>T	c.(547-549)gcC>gcT	p.A183A	PQLC1_ENST00000357575.4_Silent_p.A165A|PQLC1_ENST00000409073.1_Silent_p.A100A|PQLC1_ENST00000590381.1_Intron	NM_025078.4	NP_079354.2	Q8N2U9	PQLC1_HUMAN	PQ loop repeat containing 1	183	PQ-loop 2.					integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	9		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		CACCCAGCATGGCTTCGGTCA	0.647000													19	17					0	0	0.000229342	0	0
RCAN1	1827	broad.mit.edu	37	21	35895913	35895913	+	Silent	SNP	G	G	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr21:35895913G>A	ENST00000481448.1	-	3	804	c.318C>T	c.(316-318)ccC>ccT	p.P106P	RCAN1_ENST00000482533.1_5'UTR|RCAN1_ENST00000381135.3_Silent_p.P106P|RCAN1_ENST00000443408.2_5'UTR|RCAN1_ENST00000399272.1_Silent_p.P35P|RCAN1_ENST00000381132.2_Silent_p.P61P|RCAN1_ENST00000487990.1_5'UTR|RCAN1_ENST00000489903.1_5'UTR|RCAN1_ENST00000313806.4_Silent_p.P116P			P53805	RCAN1_HUMAN	regulator of calcineurin 1	116					blood circulation|calcium-mediated signaling|central nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						CTGCGGAGAAGGGGTTGCTGA	0.438000													264	36					0	0	0.000147903	0	0
GBP1	2633	broad.mit.edu	37	1	89523792	89523792	+	Silent	SNP	G	G	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr1:89523792G>A	ENST00000370473.4	-	6	976	c.757C>T	c.(757-759)Cta>Tta	p.L253L		NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	253					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		TCATCTTGTAGTTTCTCGAGC	0.448000													91	107					0	0	0.000147903	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64594849	64594849	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr11:64594849G>A	ENST00000342711.5	-	33	4171	c.4172C>T	c.(4171-4173)cCg>cTg	p.P1391L		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1391					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						GGTGAGGTCCGGGATGTCGAA	0.632000													48	56					0	0	0.000147903	0	0
ZNF99	7652	broad.mit.edu	37	19	22939345	22939345	+	Silent	SNP	T	T	C			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr19:22939345T>C	ENST00000397104.3	-	7	2825	c.2826A>G	c.(2824-2826)aaA>aaG	p.K942K						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ATTTGTAGGGTTTCTCTCCAG	0.378000													18	18					0	0	0.000132079	0	0
CCT6B	10693	broad.mit.edu	37	17	33269603	33269603	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr17:33269603G>A	ENST00000314144.5	-	7	900	c.785C>T	c.(784-786)gCt>gTt	p.A262V	CCT6B_ENST00000421975.3_Missense_Mutation_p.A225V|CCT6B_ENST00000436961.3_Missense_Mutation_p.A217V	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	262					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				TTTTCTTTCAGCTTTTACCAA	0.328000													15	13					0	0	0.000219431	0	0
CTSD	1509	broad.mit.edu	37	11	1774847	1774847	+	Silent	SNP	G	G	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr11:1774847G>A	ENST00000236671.2	-	9	1257	c.1125C>T	c.(1123-1125)atC>atT	p.I375I	RP11-295K3.1_ENST00000427721.1_Intron	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	375					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGGGTGGCGGGATGTCCATGC	0.662000													30	22					0	0	0.000339439	0	0
HRNR	388697	broad.mit.edu	37	1	152191343	152191343	+	Missense_Mutation	SNP	C	C	T	rs142342392		TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr1:152191343C>T	ENST00000368801.2	-	3	2837	c.2762G>A	c.(2761-2763)cGa>cAa	p.R921Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	921					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACCCATGTCGGCCACTGCT	0.627000													8	224					0	0	0.000229342	0	0
YIPF7	285525	broad.mit.edu	37	4	44638040	44638040	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr4:44638040G>A	ENST00000332990.5	-	3	267	c.251C>T	c.(250-252)tCg>tTg	p.S84L		NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	84						endoplasmic reticulum membrane|integral to membrane				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						TGCGTAACCCGATGACATGAG	0.408000													31	32					0	0	0.000339439	0	0
MSI2	124540	broad.mit.edu	37	17	55752363	55752363	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr17:55752363C>T	ENST00000284073.2	+	12	1030	c.821C>T	c.(820-822)cCg>cTg	p.P274L	MSI2_ENST00000416426.2_Missense_Mutation_p.P270L|MSI2_ENST00000579505.1_3'UTR|MSI2_ENST00000442934.2_Missense_Mutation_p.P213L	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	274						cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		GGAGGCTTCCCGGGGGCCAAC	0.662000			T	HOXA9	CML								60	52					0	0	0.000147903	0	0
ZNF468	90333	broad.mit.edu	37	19	53344878	53344878	+	Silent	SNP	G	G	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr19:53344878G>A	ENST00000595646.1	-	4	789	c.669C>T	c.(667-669)tcC>tcT	p.S223S	ZNF468_ENST00000390651.4_Silent_p.S170S|ZNF468_ENST00000396409.4_Silent_p.S170S|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000243639.4_3'UTR			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	223					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S223S(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		TGCAATTAAAGGATTTGAAGC	0.323000													36	36					0	0	0.000109025	0	0
CALB1	793	broad.mit.edu	37	8	91081382	91081382	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr8:91081382C>T	ENST00000265431.3	-	4	496	c.315_splice	c.e4+1	p.K105_splice	CALB1_ENST00000518457.1_Splice_Site_p.K48_splice	NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	calbindin 1, 28kDa	105	EF-hand 3.					nucleus	calcium ion binding|vitamin D binding			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TTTCTTATACCTTCATGAATT	0.378000													29	39					0	0	0.000279167	0	0
STK36	27148	broad.mit.edu	37	2	219538675	219538675	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr2:219538675A>G	ENST00000295709.3	+	4	578	c.299A>G	c.(298-300)gAc>gGc	p.D100G	STK36_ENST00000392106.2_Missense_Mutation_p.D100G|STK36_ENST00000440309.1_Missense_Mutation_p.D100G|STK36_ENST00000392105.3_Missense_Mutation_p.D100G	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	100	Protein kinase.				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CTTCCTGAAGACCAGGTATGC	0.502000													12	12					0	0	0.00010058	0	0
DNAH9	1770	broad.mit.edu	37	17	11511573	11511573	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr17:11511573G>A	ENST00000262442.3	+	2	613	c.545G>A	c.(544-546)gGa>gAa	p.G182E	DNAH9_ENST00000579406.1_3'UTR|DNAH9_ENST00000579828.1_Missense_Mutation_p.G182E|DNAH9_ENST00000454412.2_Missense_Mutation_p.G182E	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	182	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAAGTGAAGGGAAAAACTTTG	0.507000													70	90					0	0	0.000147903	0	0
PPP3R2	5535	broad.mit.edu	37	9	104356816	104356816	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr9:104356816G>A	ENST00000374806.1	-	1	467	c.397C>T	c.(397-399)Cag>Tag	p.Q133*	GRIN3A_ENST00000361820.3_Intron	NM_147180.2	NP_671709.1	Q96LZ3	CANB2_HUMAN	protein phosphatase 3, regulatory subunit B, beta	130	EF-hand 4.						calcium ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	ACCAGCTGCTGGAGCTGCCAG	0.512000													26	32					0	0	7.16444e-05	0	0
VN1R2	317701	broad.mit.edu	37	19	53761927	53761927	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr19:53761927G>A	ENST00000341702.3	+	1	383	c.299G>A	c.(298-300)gGa>gAa	p.G100E		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	100					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)		GTAGTTGTTGGAATCCTGGGG	0.428000													10	19					0	0	2.17888e-05	0	0
GPR115	221393	broad.mit.edu	37	6	47682279	47682279	+	Missense_Mutation	SNP	C	C	T	rs146828294	by1000genomes	TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr6:47682279C>T	ENST00000283303.2	+	6	1556	c.1298C>T	c.(1297-1299)aCg>aTg	p.T433M	GPR115_ENST00000327753.3_Missense_Mutation_p.T433M|GPR115_ENST00000371220.1_Missense_Mutation_p.T490M	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	433					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						GTGGTTGTGACGGAGATATCA	0.478000													50	171					0	0	0.000147903	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76501305	76501305	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr16:76501305G>A	ENST00000307431.8	+	11	1922	c.1537G>A	c.(1537-1539)Gga>Aga	p.G513R	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.G517R|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.G465R|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.G441R	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	514	Laminin G-like 2.		Q -> H (in dbSNP:rs6564343).		cell adhesion|signal transduction	integral to membrane	receptor binding	p.G441*(1)|p.G489*(1)|p.G513*(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TGGATTTCAGGGATGTATGAG	0.428000													23	32					0	0	0.000375601	0	0
TTN	7273	broad.mit.edu	37	2	179644801	179644801	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr2:179644801C>T	ENST00000589042.1	-	22	3879	c.3655G>A	c.(3655-3657)Gaa>Aaa	p.E1219K	TTN_ENST00000360870.5_Missense_Mutation_p.E1219K|TTN_ENST00000591111.1_Missense_Mutation_p.E1219K|TTN_ENST00000342175.6_Missense_Mutation_p.E1173K|TTN_ENST00000342992.6_Missense_Mutation_p.E1219K|TTN_ENST00000359218.5_Missense_Mutation_p.E1173K|TTN_ENST00000460472.2_Missense_Mutation_p.E1173K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1219							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTtctttttcatactctttt	0.358000													43	53					0	0	0.000374591	0	0
PKDREJ	10343	broad.mit.edu	37	22	46657755	46657755	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr22:46657755C>T	ENST00000253255.5	-	1	1464	c.1465G>A	c.(1465-1467)Gat>Aat	p.D489N		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	489	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TTATAGAAATCACGGCTTGCA	0.378000													94	114					0	0	0.000147903	0	0
KIF21A	55605	broad.mit.edu	37	12	39760883	39760883	+	Silent	SNP	G	G	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr12:39760883G>A	ENST00000395670.3	-	5	1103	c.684C>T	c.(682-684)gcC>gcT	p.A228A	KIF21A_ENST00000544797.2_Silent_p.A228A|KIF21A_ENST00000361418.5_Silent_p.A228A|KIF21A_ENST00000541463.2_Silent_p.A228A|KIF21A_ENST00000361961.3_Silent_p.A228A			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	228	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TGGTAAAAATGGCATGTGAAC	0.393000													19	23					0	0	0.000132079	0	0
KCNQ1	3784	broad.mit.edu	37	11	2869161	2869161	+	Silent	SNP	C	C	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr11:2869161C>T	ENST00000155840.5	+	16	2067	c.1959C>T	c.(1957-1959)ttC>ttT	p.F653F	KCNQ1_ENST00000526095.1_3'UTR|KCNQ1_ENST00000335475.5_Silent_p.F526F|KCNQ1-AS1_ENST00000440887.2_RNA	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	653					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	CTGAGCTCTTCCTGCCCAGCA	0.736000													40	50					0	0	0.000106405	0	0
ATRX	546	broad.mit.edu	37	X	76912109	76912109	+	Silent	SNP	C	C	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chrX:76912109C>T	ENST00000373344.5	-	13	4369	c.4155G>A	c.(4153-4155)caG>caA	p.Q1385Q	ATRX_ENST00000395603.3_Silent_p.Q1347Q|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1385					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CTCCTGATTCCTGAAAATCAG	0.279000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						44	3					0	0	0.000147903	0	0
CPAMD8	27151	broad.mit.edu	37	19	17122526	17122526	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr19:17122526C>T	ENST00000443236.1	-	4	481	c.450G>A	c.(448-450)tgG>tgA	p.W150*	CPAMD8_ENST00000388925.4_Nonsense_Mutation_p.W103*|CTD-2528A14.1_ENST00000595134.1_RNA	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	103						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AGCCGCGGCCCCACACTTTCA	0.637000													19	19					0	0	9.7654e-05	0	0
CES2	8824	broad.mit.edu	37	16	66974501	66974501	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr16:66974501C>T	ENST00000317091.4	+	5	1895	c.911C>T	c.(910-912)tCc>tTc	p.S304F	CES2_ENST00000417689.1_Missense_Mutation_p.S304F	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	240					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		CTTGTTGTGTCCCCCATATCC	0.592000													36	34					0	0	0.000191422	0	0
ST6GALNAC4	27090	broad.mit.edu	37	9	130672310	130672310	+	Silent	SNP	G	G	A	rs138532276		TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr9:130672310G>A	ENST00000335791.5	-	5	914	c.639C>T	c.(637-639)acC>acT	p.T213T	ST6GALNAC4_ENST00000495983.1_5'UTR|ST6GALNAC4_ENST00000343609.2_Silent_p.T129T	NM_175039.3	NP_778204.1	Q9H4F1	SIA7D_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4	213					glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						TGAACCAGCCGGTGCTGAGGA	0.657000													19	23					0	0	0.000175454	0	0
CTDSP1	58190	broad.mit.edu	37	2	219266858	219266858	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr2:219266858C>T	ENST00000273062.2	+	3	577	c.241C>T	c.(241-243)Cct>Tct	p.P81S	CTDSP1_ENST00000443891.1_Missense_Mutation_p.P80S|CTDSP1_ENST00000488627.1_3'UTR	NM_021198.2|NM_182642.2	NP_067021.1|NP_872580.1	Q9GZU7	CTDS1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1	81					protein dephosphorylation|regulation of transcription from RNA polymerase II promoter	nucleus	CTD phosphatase activity|metal ion binding|protein binding			NS(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	8		Renal(207;0.0915)		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATACCTGCTCCCTGAGGCCAA	0.652000													11	13					0	0	0.000308642	0	0
CXXC11	285093	broad.mit.edu	37	2	242814522	242814522	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr2:242814522G>A	ENST00000343216.3	+	2	843	c.815G>A	c.(814-816)gGc>gAc	p.G272D		NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN	CXXC finger protein 11	272						integral to membrane											CTCTTCCACGGCCCCGGCCTC	0.672000													15	41					0	0	7.07596e-05	0	0
BMS1	9790	broad.mit.edu	37	10	43318651	43318651	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr10:43318651A>G	ENST00000374518.4	+	20	3281	c.3218A>G	c.(3217-3219)aAa>aGa	p.K1073R		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1073					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CAGATCAAGAAAGCACTCCGA	0.498000													4	54					0	0	1.23904e-05	0	0
CHRNA5	1138	broad.mit.edu	37	15	78885454	78885454	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr15:78885454C>T	ENST00000559554.1	+	6	628	c.479C>T	c.(478-480)tCa>tTa	p.S160L	CHRNA5_ENST00000299565.5_Silent_p.F422F|CHRNA3_ENST00000348639.3_Silent_p.*490*			P30532	ACHA5_HUMAN	cholinergic receptor, nicotinic, alpha 5 (neuronal)	0					behavioral response to nicotine	cell junction|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15						ATTGGAAATTCATAGCCCAGG	0.308000													56	73					0	0	0.000147903	0	0
SDPR	8436	broad.mit.edu	37	2	192701377	192701377	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr2:192701377C>T	ENST00000304141.4	-	2	879	c.550G>A	c.(550-552)Gag>Aag	p.E184K		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	184						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	GGAAGCTCCTCCTTCCCTTCC	0.522000													17	22					0	0	7.07596e-05	0	0
FGA	2243	broad.mit.edu	37	4	155507077	155507077	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr4:155507077C>T	ENST00000302053.3	-	5	1582	c.1504G>A	c.(1504-1506)Ggc>Agc	p.G502S	FGA_ENST00000403106.3_Missense_Mutation_p.G502S	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	502					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GTACCTATGCCAGACAATGTG	0.493000													42	57					0	0	0.000437636	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs141732548	by1000genomes	TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr21:14414855A>G	ENST00000507941.1	+	0	95																											GCCAATGGCCATGCAGAAGTA	0.448000													4	28					0	0	3.59834e-05	0	0
PCDH20	64881	broad.mit.edu	37	13	61985483	61985483	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr13:61985483C>T	ENST00000409186.1	-	5	4854	c.2749G>A	c.(2749-2751)Gaa>Aaa	p.E917K	PCDH20_ENST00000409204.4_Missense_Mutation_p.E917K			Q8N6Y1	PCD20_HUMAN	protocadherin 20	890					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GGATGCTTTTCCCCTTTCCTT	0.418000													18	19					0	0	9.7654e-05	0	0
BMP2	650	broad.mit.edu	37	20	6759423	6759423	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr20:6759423A>C	ENST00000378827.4	+	3	2097	c.878A>C	c.(877-879)aAg>aCg	p.K293T		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	293					BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	AAACGCCTTAAGTCCAGCTGT	0.498000													14	30					0	0	0.000219431	0	0
NCOR2	9612	broad.mit.edu	37	12	124911200	124911200	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr12:124911200C>A	ENST00000356219.3	-	12	1451	c.1296G>T	c.(1294-1296)tgG>tgT	p.W432C	NCOR2_ENST00000405201.1_Missense_Mutation_p.W432C|NCOR2_ENST00000404121.2_Missense_Mutation_p.W2C|NCOR2_ENST00000397355.1_Missense_Mutation_p.W432C|NCOR2_ENST00000404621.1_Missense_Mutation_p.W431C|NCOR2_ENST00000429285.2_Missense_Mutation_p.W431C	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	432	SANT 1.				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CCTGCTCACTCCACATGTTCA	0.597000													19	16					4.35082e-09	1.33587e-07	0.000175454	1	0
HFE	3077	broad.mit.edu	37	6	26092986	26092986	+	Silent	SNP	C	C	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr6:26092986C>T	ENST00000357618.5	+	4	812	c.690C>T	c.(688-690)taC>taT	p.Y230Y	HFE_ENST00000397022.3_Silent_p.Y207Y|HFE_ENST00000353147.5_Silent_p.Y50Y|HFE_ENST00000317896.7_Silent_p.Y138Y|HFE_ENST00000352392.4_Intron|HFE_ENST00000461397.1_Silent_p.Y216Y|HFE_ENST00000309234.6_Silent_p.Y230Y|HFE_ENST00000349999.4_Silent_p.Y142Y|HFE_ENST00000336625.8_Silent_p.Y124Y|HFE_ENST00000470149.1_Silent_p.Y227Y|HFE_ENST00000488199.1_Silent_p.Y128Y	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN	hemochromatosis	230	Alpha-3.|Ig-like C1-type.			Y -> H (in Ref. 7; AAG29342).	antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome	protein binding			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCTTGAACTACTACCCCCAGA	0.512000									Hemochromatosis				6	148					0	0	8.12818e-05	0	0
NRK	203447	broad.mit.edu	37	X	105167175	105167175	+	Silent	SNP	C	C	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chrX:105167175C>T	ENST00000428173.2	+	18	2982	c.2679C>T	c.(2677-2679)ggC>ggT	p.G893G	NRK_ENST00000243300.9_Silent_p.G892G			Q7Z2Y5	NRK_HUMAN	Nik related kinase	892							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						AATGGGTAGGCTATAATGCAC	0.423000										HNSCC(51;0.14)			67	8					0	0	0.000147903	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651162	1651162	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr11:1651162G>T	ENST00000399676.2	+	1	130	c.92G>T	c.(91-93)tGt>tTt	p.C31F		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	31				C -> R (in Ref. 1; BAD20201 and 2; CAF31639).		keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		tgtggaggctgtggctctggc	0.716000													4	40					2.56e-06	7.80884e-05	0.00024832	1	0
PIK3R1	5295	broad.mit.edu	37	5	67589664	67589664	+	Splice_Site	SNP	T	T	G			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr5:67589664T>G	ENST00000521381.1	+	11	2041		c.e11+2		PIK3R1_ENST00000320694.8_Splice_Site|PIK3R1_ENST00000396611.1_Splice_Site|PIK3R1_ENST00000336483.5_Splice_Site|PIK3R1_ENST00000523872.1_Splice_Site|PIK3R1_ENST00000274335.5_Splice_Site|PIK3R1_ENST00000521657.1_Splice_Site	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)						epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.D434_Q475del(2)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	ACATCCCAGGTGAGTTTTCTA	0.294000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			23	43					0	0	5.49717e-05	0	0
PLIN4	729359	broad.mit.edu	37	19	4511544	4511544	+	Missense_Mutation	SNP	C	C	T	rs71263980		TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr19:4511544C>T	ENST00000301286.3	-	3	2385	c.2386G>A	c.(2386-2388)Gcc>Acc	p.A796T		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	796	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GCCCCCTTGGCCACATTCGCA	0.617000													27	65					0	0	0.000147802	0	0
AP003900.6	0	broad.mit.edu	37	21	11180762	11180762	+	RNA	DEL	T	T	-	rs146742149		TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr21:11180762delT	ENST00000603265.1	+	0	231																											aACTAACTTCTTTTTTTTTTT	0.348													5	5	---	---	---	---