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
TTC21A	199223	broad.mit.edu	37	3	39166621	39166621	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr3:39166621G>A	ENST00000301819.6	+	10	1362	c.1185G>A	c.(1183-1185)aaG>aaA	p.K395K	TTC21A_ENST00000431162.2_Silent_p.K395K|TTC21A_ENST00000440121.1_Silent_p.K346K	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	395							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		AATTCCTGAAGGAGGTGCAGA	0.532000											OREG0015487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	73					0	0	1	0	0
RHAG	6005	broad.mit.edu	37	6	49578835	49578835	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr6:49578835C>T	ENST00000371175.4	-	7	995	c.969G>A	c.(967-969)agG>agA	p.R323R	RHAG_ENST00000229810.7_Intron	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	323					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					TATCATGGATCCTCAGTTTAG	0.428000													5	100					0	0	1	0	0
TIMELESS	8914	broad.mit.edu	37	12	56827628	56827628	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr12:56827628G>A	ENST00000229201.4	-	3	334	c.180C>T	c.(178-180)atC>atT	p.I60I	TIMELESS_ENST00000554616.1_Silent_p.I60I|TIMELESS_ENST00000553532.1_Silent_p.I60I	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	60					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CGCTCTGTAGGATCTGGGCTG	0.532000													24	110					0	0	1	0	0
ZNF862	643641	broad.mit.edu	37	7	149544949	149544949	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:149544949G>A	ENST00000223210.4	+	4	612	c.367G>A	c.(367-369)Gag>Aag	p.E123K		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						TGGACACATCGAGGGAGACTG	0.557000													40	13					0	0	1	0	0
DYRK3	8444	broad.mit.edu	37	1	206821272	206821272	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:206821272G>A	ENST00000367106.1	+	4	1142	c.669G>A	c.(667-669)gaG>gaA	p.E223E	DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367109.2_Silent_p.E243E|DYRK3_ENST00000367108.3_Silent_p.E223E			O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	243	Protein kinase.				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TGCGCAATGAGAAGCGCTTTC	0.463000													16	169					0	0	1	0	0
LMBR1	64327	broad.mit.edu	37	7	156516853	156516853	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:156516853G>A	ENST00000353442.4	-	15	1414	c.1178C>T	c.(1177-1179)tCc>tTc	p.S393F	LMBR1_ENST00000359422.4_Missense_Mutation_p.S241F|LMBR1_ENST00000354505.4_Missense_Mutation_p.S434F|LMBR1_ENST00000461603.1_5'UTR|LMBR1_ENST00000540390.1_Missense_Mutation_p.S372F	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1	393						integral to membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		AACCAAGATGGACACACAATT	0.378000													9	57					0	0	1	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136314964	136314964	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr9:136314964C>T	ENST00000371929.3	+	23	3366	c.2922C>T	c.(2920-2922)atC>atT	p.I974I	ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000355699.2_Silent_p.I974I|ADAMTS13_ENST00000536611.1_3'UTR|ADAMTS13_ENST00000356589.2_Silent_p.I943I	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	974	TSP type-1 6.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		TGCGGAGGATCCTGTATTGTG	0.662000													8	32					0	0	1	0	0
DUSP13	51207	broad.mit.edu	37	10	76857476	76857476	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr10:76857476C>T	ENST00000491677.2	-	6	1096	c.554G>A	c.(553-555)gGa>gAa	p.G185E	DUSP13_ENST00000372700.3_Missense_Mutation_p.G106E|DUSP13_ENST00000605915.1_Missense_Mutation_p.G78E|DUSP13_ENST00000478873.2_Missense_Mutation_p.G192E|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000472493.2_Missense_Mutation_p.G56E|DUSP13_ENST00000464872.1_Missense_Mutation_p.G56E|DUSP13_ENST00000607131.1_Missense_Mutation_p.G149E	NM_001007271.1	NP_001007272.1	Q6B8I1	MDSP_HUMAN	dual specificity phosphatase 13	48						cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TCACGCATCTCCCAGGAAGAG	0.612000													11	44					0	0	1	0	0
OR1N1	138883	broad.mit.edu	37	9	125288712	125288712	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr9:125288712G>A	ENST00000304880.2	-	1	860	c.861C>T	c.(859-861)atC>atT	p.I287I		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TTAGGCTATAGATAAAGGGGT	0.473000													34	19					0	0	1	0	0
TBATA	219793	broad.mit.edu	37	10	72533997	72533997	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr10:72533997G>A	ENST00000299290.1	-	9	1278	c.889C>T	c.(889-891)Cct>Tct	p.P297S	TBATA_ENST00000456372.2_3'UTR	NM_152710.2	NP_689923.2			thymus, brain and testes associated																		TTCTCTTGAGGAGGTTCATGC	0.622000													7	9					0	0	1	0	0
NUF2	83540	broad.mit.edu	37	1	163307841	163307841	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:163307841A>T	ENST00000271452.3	+	7	746	c.467A>T	c.(466-468)aAc>aTc	p.N156I	NUF2_ENST00000490881.1_3'UTR|NUF2_ENST00000524800.1_Missense_Mutation_p.N156I|NUF2_ENST00000367900.3_Missense_Mutation_p.N156I	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	156	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					CAACAGTTAAACGCCGCACAC	0.343000													18	75					0	0	1	0	0
MTF1	4520	broad.mit.edu	37	1	38305672	38305672	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:38305672G>A	ENST00000373036.4	-	3	707	c.567C>T	c.(565-567)atC>atT	p.I189I		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	189						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTCGCACGTGGATCCTGAGGC	0.537000													40	31					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141215151	141215151	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr2:141215151C>T	ENST00000389484.3	-	61	10666	c.9695G>A	c.(9694-9696)gGg>gAg	p.G3232E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3232					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTTGGTTTTCCCATCAGTCCA	0.428000										TSP Lung(27;0.18)			88	45					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26224808	26224808	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr22:26224808A>G	ENST00000335473.7	+	15	3102	c.2852A>G	c.(2851-2853)aAc>aGc	p.N951S	MYO18B_ENST00000536101.1_Missense_Mutation_p.N951S|MYO18B_ENST00000407587.2_Missense_Mutation_p.N951S	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	951	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGCTTCCAGAACCCCCGGCAC	0.592000													11	66					0	0	1	0	0
ARSA	410	broad.mit.edu	37	22	51063771	51063771	+	Silent	SNP	C	C	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr22:51063771C>A	ENST00000547307.1	-	8	1731	c.1326G>T	c.(1324-1326)ctG>ctT	p.L442L	ARSA_ENST00000395619.3_Silent_p.L444L|ARSA_ENST00000395621.3_Silent_p.L444L|ARSA_ENST00000216124.5_Silent_p.L444L|ARSA_ENST00000356098.5_Silent_p.L444L|ARSA_ENST00000453344.2_Silent_p.L358L|ARSA_ENST00000547805.1_Silent_p.L442L			P15289	ARSA_HUMAN	arylsulfatase A	442						lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	CCACACCCCCCAGCAGGTTGT	0.642000													26	81					9.04412e-07	9.18568e-07	1	1	0
FMO2	2327	broad.mit.edu	37	1	171178045	171178045	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:171178045C>T	ENST00000441535.1	+	9	1486	c.1369C>T	c.(1369-1371)Cct>Tct	p.P457S	RP1-127D3.4_ENST00000445909.1_RNA|FMO2_ENST00000529935.1_3'UTR|RP1-45C12.1_ENST00000455124.1_RNA|RP1-127D3.4_ENST00000422841.1_RNA|FMO2_ENST00000209929.7_Missense_Mutation_p.P457S|RP1-127D3.4_ENST00000445290.1_RNA	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	457					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTTCAAAGATCCTAAACTGGC	0.502000													99	307					0	0	1	0	0
AOC4P	90586	broad.mit.edu	37	17	41020650	41020650	+	RNA	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:41020650G>A	ENST00000585538.1	+	0	1489					NR_002773.1																						CACTACTTTGGGGGCCTTGCG	0.522000													9	45					0	0	1	0	0
CCM2	83605	broad.mit.edu	37	7	45115434	45115434	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:45115434C>T	ENST00000475551.1	+	10	1855	c.1095C>T	c.(1093-1095)acC>acT	p.T365T	CCM2_ENST00000544363.1_Silent_p.T280T|CCM2_ENST00000474617.1_Silent_p.T274T|CCM2_ENST00000541586.1_Silent_p.T313T|CCM2_ENST00000258781.6_Silent_p.T371T|CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000381112.3_Silent_p.T392T			Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2	371					endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding			NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TCCTGGAGACCATTGGCGTGA	0.602000													40	58					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100663452	100663452	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:100663452G>A	ENST00000306151.4	+	1	100	c.36G>A	c.(34-36)ctG>ctA	p.L12L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	12						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TGTGTCTGCTGACCTTGGTCC	0.657000													37	27					0	0	1	0	0
PTCH1	5727	broad.mit.edu	37	9	98221922	98221922	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr9:98221922G>A	ENST00000430669.2	-	17	3234	c.2649C>T	c.(2647-2649)gtC>gtT	p.V883V	PTCH1_ENST00000437951.1_Silent_p.V883V|PTCH1_ENST00000331920.6_Silent_p.V949V|PTCH1_ENST00000418258.1_Silent_p.V798V|PTCH1_ENST00000429896.2_Silent_p.V798V|PTCH1_ENST00000421141.1_Silent_p.V798V|PTCH1_ENST00000375274.2_Silent_p.V948V			Q13635	PTC1_HUMAN	patched 1	949					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CTTTGTCGTGGACCCATTCTG	0.567000													15	63					0	0	1	0	0
NOX3	50508	broad.mit.edu	37	6	155761095	155761095	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr6:155761095C>T	ENST00000159060.2	-	6	765	c.663G>A	c.(661-663)ggG>ggA	p.G221G		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	221	Ferric oxidoreductase.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CTTACCCCGTCCCATGGATGG	0.488000													15	22					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74008121	74008121	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:74008121G>T	ENST00000301607.3	-	19	2676	c.2423C>A	c.(2422-2424)tCc>tAc	p.S808Y	EVPL_ENST00000586740.1_Missense_Mutation_p.S830Y	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	808	Globular 1.				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						GGAGAGGTGGGATGCTGTGGC	0.627000													3	9					0.00024832	0.000250033	1	1	0
SPERT	220082	broad.mit.edu	37	13	46287923	46287923	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr13:46287923C>T	ENST00000378966.3	+	2	1071	c.655C>T	c.(655-657)Cgc>Tgc	p.R219C	SPERT_ENST00000310521.1_Missense_Mutation_p.R255C			Q8NA61	SPERT_HUMAN	spermatid associated	255						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		GGAGGAGAATCGCGCGCTGCA	0.687000													5	16					0	0	1	0	0
SLC36A2	153201	broad.mit.edu	37	5	150701675	150701675	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr5:150701675G>A	ENST00000335244.4	-	9	1241	c.1112C>T	c.(1111-1113)tCc>tTc	p.S371F	SLC36A2_ENST00000521967.1_Missense_Mutation_p.S371F|SLC36A2_ENST00000450886.1_Missense_Mutation_p.S95F	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	371					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGACACCCGGGAGATGGCAAA	0.547000													14	83					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117246754	117246754	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:117246754G>A	ENST00000003084.6	+	18	3067	c.2935G>A	c.(2935-2937)Gat>Aat	p.D979N	AC000111.6_ENST00000456270.1_RNA|CFTR_ENST00000454343.1_Missense_Mutation_p.D918N	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	979	ABC transmembrane type-1 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	ATTCTCCAAAGATATAGCAAT	0.269000									Cystic Fibrosis				71	82					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204985598	204985598	+	Silent	SNP	G	G	A	rs148890529	byFrequency	TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:204985598G>A	ENST00000367172.4	+	32	4303	c.3975G>A	c.(3973-3975)aaG>aaA	p.K1325K	NFASC_ENST00000367169.4_Silent_p.K1049K|NFASC_ENST00000360049.4_Silent_p.K1147K|NFASC_ENST00000401399.1_Silent_p.K1218K|NFASC_ENST00000339876.6_Silent_p.K1218K|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000539706.1_Silent_p.K1152K|NFASC_ENST00000338515.6_Silent_p.K1235K|NFASC_ENST00000367171.4_Silent_p.K1310K|NFASC_ENST00000404907.1_Silent_p.K1152K|NFASC_ENST00000338586.6_Silent_p.K1202K|NFASC_ENST00000404076.1_Silent_p.K1135K|NFASC_ENST00000513543.1_Silent_p.K1147K|NFASC_ENST00000367170.4_Silent_p.K1246K			O94856	NFASC_HUMAN	neurofascin	1325					axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AAAAGGACAAGGAGGAAACAG	0.567000													17	112					0	0	1	0	0
TRPM4	54795	broad.mit.edu	37	19	49703917	49703917	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:49703917C>T	ENST00000252826.5	+	19	2954	c.2828C>T	c.(2827-2829)gCc>gTc	p.A943V	TRPM4_ENST00000355712.5_Missense_Mutation_p.A589V|TRPM4_ENST00000427978.2_Missense_Mutation_p.A798V	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	943					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TGGCTGGTAGCCTATGGCGTG	0.622000													17	49					0	0	1	0	0
MAGI3	260425	broad.mit.edu	37	1	114201748	114201748	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:114201748C>T	ENST00000369615.1	+	16	2738	c.2676C>T	c.(2674-2676)gaC>gaT	p.D892D	MAGI3_ENST00000369611.4_Silent_p.D892D|MAGI3_ENST00000307546.9_Silent_p.D892D|MAGI3_ENST00000369617.4_Silent_p.D917D	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	917	Interaction with LPAR2 and GRIN2B.|PDZ 5.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTCCGGCTGACCGCTGTGGAA	0.398000													15	129					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2976069	2976069	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr8:2976069C>T	ENST00000520002.1	-	43	6840	c.6285G>A	c.(6283-6285)caG>caA	p.Q2095Q	CSMD1_ENST00000602723.1_Silent_p.Q2095Q|CSMD1_ENST00000400186.3_Silent_p.Q2095Q|CSMD1_ENST00000537824.1_Silent_p.Q2094Q|CSMD1_ENST00000542608.1_Silent_p.Q2094Q|CSMD1_ENST00000602557.1_Silent_p.Q2095Q			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2095	Sushi 12.					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)		TGTACCCATTCTGAAATGGGG	0.408000													28	43					0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103418843	103418843	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr14:103418843G>A	ENST00000361246.2	-	24	3452	c.3164C>T	c.(3163-3165)gCc>gTc	p.A1055V		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	1055					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		ACCCTCGCAGGCGTAGCCCTG	0.637000													3	12					0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55451046	55451046	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:55451046C>T	ENST00000446217.1	-	6	1627	c.1225G>A	c.(1225-1227)Gag>Aag	p.E409K	NLRP7_ENST00000328092.5_Missense_Mutation_p.E381K|NLRP7_ENST00000448121.2_Missense_Mutation_p.E381K|NLRP7_ENST00000340844.2_Missense_Mutation_p.E381K|NLRP7_ENST00000592784.1_Missense_Mutation_p.E381K|NLRP7_ENST00000590030.1_Missense_Mutation_p.E381K|NLRP7_ENST00000588756.1_Missense_Mutation_p.E381K			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	381	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		ACCGGGTCCTCCCCCTTCTCC	0.687000													17	31					0	0	1	0	0
PLD1	5337	broad.mit.edu	37	3	171377080	171377080	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr3:171377080G>A	ENST00000356327.5	-	20	2308	c.2238C>T	c.(2236-2238)ttC>ttT	p.F746F	PLD1_ENST00000340989.4_Silent_p.F784F|PLD1_ENST00000351298.4_Silent_p.F784F|PLD1_ENST00000342215.6_3'UTR	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	784	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CACAGCTTATGAAAAACTGGT	0.353000													30	139					0	0	1	0	0
KANK2	25959	broad.mit.edu	37	19	11289038	11289038	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:11289038G>A	ENST00000432929.2	-	6	1887	c.1527C>T	c.(1525-1527)ttC>ttT	p.F509F	KANK2_ENST00000586659.1_Silent_p.F501F|KANK2_ENST00000589894.1_Silent_p.F501F|KANK2_ENST00000589359.1_Silent_p.F509F|KANK2_ENST00000355150.5_Silent_p.F501F	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	501										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGACCCCCACGAACTGGAGGC	0.647000													6	29					0	0	1	0	0
SLC44A5	204962	broad.mit.edu	37	1	75672358	75672358	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:75672358G>A	ENST00000370855.5	-	24	2207	c.2094C>T	c.(2092-2094)ttC>ttT	p.F698F	SLC44A5_ENST00000535611.1_Silent_p.F568F|SLC44A5_ENST00000370859.3_Intron	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	698						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TAGGGGTTACGAAGTAGGGTT	0.413000													12	89					0	0	1	0	0
KIF13B	23303	broad.mit.edu	37	8	28997994	28997994	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr8:28997994C>T	ENST00000524189.1	-	20	2513	c.2475G>A	c.(2473-2475)caG>caA	p.Q825Q	CTD-2647L4.1_ENST00000523661.1_RNA|CTD-2647L4.1_ENST00000517632.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	825					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CCTCTCCTTTCTGGTTGATGA	0.413000													10	34					0	0	1	0	0
CDC45	8318	broad.mit.edu	37	22	19502294	19502294	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr22:19502294C>T	ENST00000407835.1	+	15	1496	c.1240C>T	c.(1240-1242)Cat>Tat	p.H414Y	CDC45_ENST00000263201.1_Missense_Mutation_p.H414Y|CDC45_ENST00000404724.3_Missense_Mutation_p.H368Y|CDC45_ENST00000437685.2_Missense_Mutation_p.H446Y			O75419	CDC45_HUMAN	cell division cycle 45	414					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						CAAGCTGTACCATGGCCTGGA	0.527000													20	30					0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24349415	24349415	+	Splice_Site	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr8:24349415G>A	ENST00000175238.6	+	14	1439		c.e14-1		RP11-624C23.1_ENST00000523578.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA|ADAM7_ENST00000520720.1_Splice_Site|ADAM7_ENST00000380789.1_Splice_Site|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7						proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TTCCTCAACAGATAAAAAAAG	0.423000													13	17					0	0	1	0	0
CHFR	55743	broad.mit.edu	37	12	133438182	133438182	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr12:133438182G>A	ENST00000266880.7	-	7	721	c.658C>T	c.(658-660)Ccc>Tcc	p.P220S	CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000450056.2_Missense_Mutation_p.P208S|CHFR_ENST00000432561.2_Missense_Mutation_p.P220S|CHFR_ENST00000315585.7_Missense_Mutation_p.P179S|CHFR_ENST00000443047.2_Missense_Mutation_p.P128S			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	220					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		GCCACAGAGGGACCACTTCCT	0.537000													10	31					0	0	1	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42110405	42110405	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr15:42110405C>T	ENST00000457542.2	+	18	2280	c.1994C>T	c.(1993-1995)cCc>cTc	p.P665L	MAPKBP1_ENST00000514566.1_Missense_Mutation_p.P665L|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.P504L|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.P548L|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.P671L	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	671										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CAGACAGACCCCTCAGGGATC	0.582000													12	64					0	0	1	0	0
OR51L1	119682	broad.mit.edu	37	11	5021148	5021148	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr11:5021148G>A	ENST00000321543.1	+	1	936	c.936G>A	c.(934-936)agG>agA	p.R312R		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGTCCTAAGGAGGAGGTTTT	0.403000													7	59					0	0	1	0	0
AKAP12	9590	broad.mit.edu	37	6	151672175	151672175	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr6:151672175G>A	ENST00000402676.2	+	4	2889	c.2649G>A	c.(2647-2649)gaG>gaA	p.E883E	AKAP12_ENST00000354675.6_Silent_p.E785E|AKAP12_ENST00000253332.1_Silent_p.E883E|AKAP12_ENST00000359755.5_Silent_p.E778E	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	883					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TGTCCAAGGAGCTCAGCGAGA	0.527000													57	32					0	0	1	0	0
KCNJ10	3766	broad.mit.edu	37	1	160011274	160011274	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:160011274C>T	ENST00000368089.3	-	2	1275	c.1049G>A	c.(1048-1050)gGa>gAa	p.G350E	KCNJ10_ENST00000509700.1_Intron	NM_002241.4	NP_002232.2	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	350						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTCAGGGTCTCCGTAGCGTAC	0.507000													7	67					0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76731877	76731877	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr6:76731877C>T	ENST00000369950.3	-	6	811	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	208					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TCGAGAATTTCATTGAGGAGG	0.398000													26	34					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140946619	140946619	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr9:140946619C>T	ENST00000277549.5	+	26	3943	c.1374C>T	c.(1372-1374)atC>atT	p.I458I	CACNA1B_ENST00000277551.2_Silent_p.I1262I|CACNA1B_ENST00000371355.4_Silent_p.I1263I|CACNA1B_ENST00000371357.1_Silent_p.I1263I|CACNA1B_ENST00000371363.1_Silent_p.I1262I|CACNA1B_ENST00000371372.1_Silent_p.I1262I			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1262					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TCAAGACCATCAAACGGCTGC	0.537000													3	13					0	0	1	0	0
PIBF1	10464	broad.mit.edu	37	13	73357695	73357695	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr13:73357695C>T	ENST00000326291.6	+	2	426	c.88C>T	c.(88-90)Cct>Tct	p.P30S		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	30						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		AACAACAGTTCCTACGGATGA	0.343000													60	62					0	0	1	0	0
IGHV1-18	28468	broad.mit.edu	37	14	106641898	106641898	+	RNA	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr14:106641898C>T	ENST00000390605.2	-	0	105																											TGGGTGAAGTCTCACATGACT	0.587000													32	84					0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5039137	5039137	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:5039137C>T	ENST00000574788.1	+	17	2808	c.578C>T	c.(577-579)aCc>aTc	p.T193I	USP6_ENST00000332776.4_Missense_Mutation_p.T193I|USP6_ENST00000250066.6_Missense_Mutation_p.T193I|USP6_ENST00000304328.5_5'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	193	Rab-GAP TBC.				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AGCCACATCACCGCCTTGTTC	0.607000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								25	141					0	0	1	0	0
HK3	3101	broad.mit.edu	37	5	176309025	176309025	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr5:176309025C>T	ENST00000292432.5	-	16	2248	c.2157G>A	c.(2155-2157)ggG>ggA	p.G719G		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	719	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCCATCGTCCCCAAAGGCGC	0.647000													55	80					0	0	1	0	0
GPR152	390212	broad.mit.edu	37	11	67219093	67219093	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr11:67219093G>A	ENST00000312457.2	-	1	1107	c.1103C>T	c.(1102-1104)tCg>tTg	p.S368L		NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	368						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S368L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			TGTGGGATCCGATCGTGGCTG	0.622000													9	42					0	0	1	0	0
CHRNB3	1142	broad.mit.edu	37	8	42586852	42586852	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr8:42586852C>T	ENST00000289957.2	+	5	530	c.402C>T	c.(400-402)atC>atT	p.I134I		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	134					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	p.I134I(1)		endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CCAAGGTCATCGTGAAATCAA	0.532000													10	44					0	0	1	0	0
POU4F3	5459	broad.mit.edu	37	5	145719650	145719650	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr5:145719650G>A	ENST00000230732.4	+	2	749	c.660G>A	c.(658-660)gtG>gtA	p.V220V	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	220	POU-specific.				sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCCCGGCGTGGGCTCGCTGA	0.632000													20	75					0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14417516	14417516	+	RNA	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr21:14417516G>A	ENST00000507941.1	+	0	128																											TGGCCATAAGGAAAAGAAGTG	0.289000													4	30					0	0	1	0	0
GBP5	115362	broad.mit.edu	37	1	89733188	89733188	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:89733188G>A	ENST00000343435.5	-	5	876	c.340C>T	c.(340-342)Cag>Tag	p.Q114*	GBP5_ENST00000370459.3_Nonsense_Mutation_p.Q114*|RP4-620F22.2_ENST00000437128.1_RNA	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	114						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		GCAAAGATCTGGATATCATTC	0.403000													49	10					0	0	1	0	0
FUT9	10690	broad.mit.edu	37	6	96651947	96651947	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr6:96651947G>A	ENST00000302103.5	+	3	1242	c.916G>A	c.(916-918)Gac>Aac	p.D306N		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	306					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		GAAGGAAGTCGACAAAAACAA	0.368000													21	27					0	0	1	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713786	142713786	+	RNA	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:142713786C>T	ENST00000369381.2	-	0	819																											TGTCATTTTTCATTGTGCATA	0.289000													43	51					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57327326	57327326	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:57327326C>T	ENST00000326441.9	-	10	2847	c.2484G>A	c.(2482-2484)agG>agA	p.R828R	ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Silent_p.R702R|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Silent_p.R828R|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Silent_p.R704R|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	828					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TACTGTATTCCCTTCCTTCAG	0.453000													21	143					0	0	1	0	0
RP11-565P22.6	0	broad.mit.edu	37	1	162351847	162351847	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:162351847G>A	ENST00000431696.1	+	3	483	c.483G>A	c.(481-483)aaG>aaA	p.161_161insK	C1orf226_ENST00000426197.2_Silent_p.K95K|C1orf226_ENST00000458626.2_Silent_p.K52K																							AGCACCTCAAGAACCTGGGCA	0.637000													9	30					0	0	1	0	0
LOC344967	344967	broad.mit.edu	37	4	40045124	40045124	+	RNA	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr4:40045124C>T	ENST00000381811.2	-	0	1025					NR_027277.1																						CCGGCGACCTCGTCCATGACC	0.552000													7	12					0	0	1	0	0
TTLL4	9654	broad.mit.edu	37	2	219603529	219603529	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr2:219603529G>A	ENST00000392102.1	+	3	1470	c.1130G>A	c.(1129-1131)aGg>aAg	p.R377K	TTLL4_ENST00000258398.4_Missense_Mutation_p.R377K|TTLL4_ENST00000457313.1_Missense_Mutation_p.R212K|TTLL4_ENST00000442769.1_Missense_Mutation_p.R377K	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	377					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		AACAGGAGCAGGCGGTGGAAA	0.572000													24	90					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237955555	237955555	+	Silent	SNP	T	T	C			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:237955555T>C	ENST00000366574.2	+	94	14031	c.13714T>C	c.(13714-13716)Ttg>Ctg	p.L4572L	RYR2_ENST00000360064.6_Silent_p.L4578L|RYR2_ENST00000542537.1_Silent_p.L4556L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4572					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.L4570L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGAGCCCACGTTGCGTATCTT	0.463000													8	38					0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8234291	8234291	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr8:8234291G>A	ENST00000520004.1	-	3	1892	c.1628C>T	c.(1627-1629)cCc>cTc	p.P543L	SGK223_ENST00000330777.4_Missense_Mutation_p.P543L			Q86YV5	SG223_HUMAN		543							ATP binding|non-membrane spanning protein tyrosine kinase activity	p.P543L(1)									CAACTTGGGGGGAATGGCGGG	0.632000													9	59					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101528919	101528919	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr15:101528919C>T	ENST00000284395.5	+	6	905	c.505C>T	c.(505-507)Ctg>Ttg	p.L169L	LRRK1_ENST00000532029.2_Silent_p.L172L|LRRK1_ENST00000388948.3_Silent_p.L172L			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	172					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGTGAAGCTCCTGGTCCTGAC	0.632000													13	95					0	0	1	0	0
KRT1	3848	broad.mit.edu	37	12	53070082	53070082	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr12:53070082G>A	ENST00000252244.3	-	7	1510	c.1452C>T	c.(1450-1452)acC>acT	p.T484T		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	484	Coil 2.|Rod.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						CCTCCAGGAGGGTCCTGTAGG	0.567000													10	33					0	0	1	0	0
LCE1B	353132	broad.mit.edu	37	1	152784986	152784986	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:152784986C>T	ENST00000360090.3	+	1	540	c.64C>T	c.(64-66)Ccc>Tcc	p.P22S		NM_178349.1	NP_848126.1	Q5T7P3	LCE1B_HUMAN	late cornified envelope 1B	22	Pro-rich.				keratinization					breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			caagtgccctcccaagtgccT	0.617000													51	173					0	0	1	0	0
VRK1	7443	broad.mit.edu	37	14	97313674	97313674	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr14:97313674G>A	ENST00000216639.3	+	5	516	c.367G>A	c.(367-369)Gga>Aga	p.G123R		NM_003384.2	NP_003375.1	Q99986	VRK1_HUMAN	vaccinia related kinase 1	123	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12		Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.234)		TGACAAAAATGGAAAAAGGTA	0.353000													17	25					0	0	1	0	0
TRIM49C	642612	broad.mit.edu	37	11	89774449	89774449	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr11:89774449G>A	ENST00000448984.1	+	8	1419	c.1090G>A	c.(1090-1092)Gag>Aag	p.E364K	TRIM49C_ENST00000432771.1_Intron	NM_001195234.1	NP_001182163.1	P0CI26	T49L2_HUMAN	tripartite motif containing 49C	364	B30.2/SPRY.					intracellular	zinc ion binding			endometrium(3)|kidney(1)|lung(4)	8						GTATCGGAAGGAGAAGAATCA	0.448000													22	71					0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546516	11546516	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr12:11546516C>T	ENST00000389362.4	-	3	531	c.496G>A	c.(496-498)Gga>Aga	p.G166R	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGTTGTCTCCTTGTGGGGGT	0.607000													95	550					0	0	1	0	0
RP11-337C18.8	0	broad.mit.edu	37	1	146650729	146650729	+	RNA	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:146650729G>A	ENST00000607149.1	+	0	350																											TCGCGTGATGGGAATGCTCTG	0.478000													29	177					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56539360	56539360	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:56539360C>T	ENST00000390649.3	+	7	1761	c.1761C>T	c.(1759-1761)ctC>ctT	p.L587L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	587	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		ACCTCAGTCTCCAGGACTTCT	0.542000													5	41					0	0	1	0	0
ZNF646	9726	broad.mit.edu	37	16	31092700	31092700	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr16:31092700C>T	ENST00000394979.2	+	1	5478	c.5055C>T	c.(5053-5055)tcC>tcT	p.S1685S	ZNF646_ENST00000300850.5_Silent_p.S1685S			O15015	ZN646_HUMAN	zinc finger protein 646	1685					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GCGGGCGCTCCTACCGCCATG	0.642000													27	117					0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12647621	12647621	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:12647621C>T	ENST00000425538.1	+	8	1039	c.839C>T	c.(838-840)cCa>cTa	p.P280L	MYOCD_ENST00000395988.1_Missense_Mutation_p.P184L|MYOCD_ENST00000343344.4_Missense_Mutation_p.P280L	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	280					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AAGTCCCCTCCACCTATGGAC	0.552000													40	46					0	0	1	0	0
CDT1	81620	broad.mit.edu	37	16	88873512	88873512	+	Silent	SNP	C	C	T	rs143599393	byFrequency	TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr16:88873512C>T	ENST00000301019.4	+	8	1795	c.1176C>T	c.(1174-1176)ccC>ccT	p.P392P		NM_030928.3	NP_112190.2	Q9H211	CDT1_HUMAN	chromatin licensing and DNA replication factor 1	392					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		CCAGCAGCCCCGGGTCTCCCA	0.667000													6	46					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181706660	181706660	+	Splice_Site	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:181706660G>A	ENST00000526775.1	+	22	3530		c.e22-1		CACNA1E_ENST00000367567.4_Splice_Site|CACNA1E_ENST00000357570.5_Splice_Site|CACNA1E_ENST00000360108.3_Splice_Site|CACNA1E_ENST00000367573.2_Splice_Site|CACNA1E_ENST00000367570.1_Splice_Site|CACNA1E_ENST00000358338.5_Splice_Site	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit						energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACTGCCCGCAGGATCCGGAGG	0.622000													16	44					0	0	1	0	0
SV2B	9899	broad.mit.edu	37	15	91827351	91827351	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr15:91827351C>T	ENST00000394232.1	+	11	2078	c.1608C>T	c.(1606-1608)ttC>ttT	p.F536F	SV2B_ENST00000545111.2_Silent_p.F385F|SV2B_ENST00000330276.4_Silent_p.F536F	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	536					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			ATAATGACTTCCTGATTTACC	0.498000													91	81					0	0	1	0	0
MROH9	80133	broad.mit.edu	37	1	170959143	170959143	+	Splice_Site	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:170959143G>A	ENST00000367759.4	+	11	1181	c.1028_splice	c.e11+1	p.D343_splice	MROH9_ENST00000367758.3_Splice_Site_p.D343_splice	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9																		TCCAGCAGACGAGTAAGGCCC	0.488000													18	53					0	0	1	0	0
PRKCH	5583	broad.mit.edu	37	14	61997128	61997128	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr14:61997128C>T	ENST00000332981.5	+	12	1961	c.1576C>T	c.(1576-1578)Ctc>Ttc	p.L526F	RP11-47I22.4_ENST00000556347.1_Silent_p.S30S|PRKCH_ENST00000555082.1_Missense_Mutation_p.L365F	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	526	Protein kinase.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		TGCACAGATCCTCCAGGAAAT	0.478000													26	139					0	0	1	0	0
ZNF526	116115	broad.mit.edu	37	19	42729964	42729964	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:42729964G>A	ENST00000301215.3	+	3	1634	c.1409G>A	c.(1408-1410)cGg>cAg	p.R470Q		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				CCCCCTGAACGGCGTCACCGC	0.667000													21	102					0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42340052	42340052	+	Missense_Mutation	SNP	C	C	T	rs56366151		TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:42340052C>T	ENST00000262418.6	-	3	213	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K	AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	20					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TCTTCATATTCCTCCTGCTCC	0.597000													25	26					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44030985	44030985	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr22:44030985C>T	ENST00000262726.7	-	18	2348	c.2095G>A	c.(2095-2097)Gaa>Aaa	p.E699K	EFCAB6_ENST00000396231.2_Missense_Mutation_p.E547K	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	699					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TAGCTACCTTCAAATCCTGCT	0.527000													17	33					0	0	1	0	0
ROBO4	54538	broad.mit.edu	37	11	124761448	124761448	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr11:124761448C>T	ENST00000306534.3	-	12	2180	c.1695G>A	c.(1693-1695)tgG>tgA	p.W565*	RP11-664I21.6_ENST00000524433.1_5'UTR|ROBO4_ENST00000533054.1_Nonsense_Mutation_p.W420*	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	565					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		TTCGGGAGTCCCAGGAGAGCA	0.597000													22	62					0	0	1	0	0
SORBS1	10580	broad.mit.edu	37	10	97096831	97096831	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr10:97096831G>A	ENST00000371247.2	-	30	3275	c.3086C>T	c.(3085-3087)cCc>cTc	p.P1029L	SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000277982.5_Intron|SORBS1_ENST00000361941.3_Missense_Mutation_p.P1029L|SORBS1_ENST00000371246.2_Intron|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.P983L|SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000607232.1_Intron			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	1029					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		AGACAGGGAGGGACTGGCCCT	0.592000													5	31					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100677960	100677960	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:100677960G>A	ENST00000306151.4	+	3	3327	c.3263G>A	c.(3262-3264)gGt>gAt	p.G1088D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1088	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACTGCTGACGGTACCAGCATG	0.507000													139	843					0	0	1	0	0
GPATCH1	55094	broad.mit.edu	37	19	33603426	33603426	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:33603426T>G	ENST00000170564.2	+	13	2113	c.1799T>G	c.(1798-1800)aTg>aGg	p.M600R		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	600						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GCTGTGAAGATGAAGATGTTT	0.478000													22	123					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76877191	76877191	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr11:76877191C>T	ENST00000409709.3	+	15	2052	c.1780C>T	c.(1780-1782)Cag>Tag	p.Q594*	MYO7A_ENST00000409893.1_Nonsense_Mutation_p.Q594*|MYO7A_ENST00000409619.2_Nonsense_Mutation_p.Q583*|MYO7A_ENST00000458637.2_Nonsense_Mutation_p.Q594*	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	594	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCAGATCTTCCAGGCCGATGT	0.592000													8	20					0	0	1	0	0
ATF7IP	55729	broad.mit.edu	37	12	14613452	14613452	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr12:14613452C>T	ENST00000544627.1	+	9	2526	c.2206C>T	c.(2206-2208)Cct>Tct	p.P736S	ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000261168.4_Missense_Mutation_p.P728S|ATF7IP_ENST00000536444.1_Missense_Mutation_p.P727S|ATF7IP_ENST00000540793.1_Missense_Mutation_p.P728S|ATF7IP_ENST00000543189.1_Missense_Mutation_p.P727S			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	728	Interaction with SETDB1.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TCTTGTCACTCCTCCAGCAGT	0.393000													26	174					0	0	1	0	0
DENND4A	10260	broad.mit.edu	37	15	65957041	65957041	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr15:65957041G>A	ENST00000443035.3	-	31	5591	c.5376C>T	c.(5374-5376)gtC>gtT	p.V1792V	DENND4A_ENST00000431932.2_Silent_p.V1749V	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1749					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GCAATAAATGGACCATTGGAT	0.333000													4	34					0	0	1	0	0
RTEL1	51750	broad.mit.edu	37	20	62321443	62321443	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr20:62321443C>T	ENST00000318100.4	+	25	2972	c.2145C>T	c.(2143-2145)ttC>ttT	p.F715F	RTEL1_ENST00000370003.1_5'UTR|RTEL1_ENST00000508582.2_Silent_p.F739F|RTEL1_ENST00000370018.3_Silent_p.F715F|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.F715F|RTEL1_ENST00000360203.5_Silent_p.F715F			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	715					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CCCCCAGGTTCGCCTTTGCCG	0.632000													16	157					0	0	1	0	0
OR2D2	120776	broad.mit.edu	37	11	6913089	6913089	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr11:6913089G>A	ENST00000299459.2	-	1	741	c.643C>T	c.(643-645)Ctg>Ttg	p.L215L		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TAGGATACCAGAATCAGAAAA	0.468000													44	33					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79325157	79325157	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr9:79325157G>A	ENST00000428286.1	-	8	2156	c.956C>T	c.(955-957)tCt>tTt	p.S319F	PRUNE2_ENST00000376718.3_Missense_Mutation_p.S678F			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	678					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTGGAAAACAGATTCCTGTTC	0.483000													31	14					0	0	1	0	0
PRR14	78994	broad.mit.edu	37	16	30664295	30664295	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr16:30664295C>T	ENST00000542965.2	+	4	831	c.375C>T	c.(373-375)tcC>tcT	p.S125S	PRR14_ENST00000300835.4_Silent_p.S125S			Q9BWN1	PRR14_HUMAN	proline rich 14	125	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			GGACCTCTTCCACCCTGAGGC	0.637000													21	58					0	0	1	0	0
ACTN1	87	broad.mit.edu	37	14	69358793	69358793	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr14:69358793G>A	ENST00000193403.6	-	10	1446	c.1063C>T	c.(1063-1065)Ccc>Tcc	p.P355S	ACTN1_ENST00000538545.2_Missense_Mutation_p.P355S|ACTN1_ENST00000394419.4_Missense_Mutation_p.P355S|ACTN1_ENST00000376839.3_Missense_Mutation_p.P290S|ACTN1_ENST00000438964.2_Missense_Mutation_p.P355S	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	355	Interaction with DDN.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CCCTCAGAGGGCATGAAGGCA	0.617000													14	28					0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17071881	17071881	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr22:17071881G>A	ENST00000359963.3	-	1	1819	c.1560C>T	c.(1558-1560)atC>atT	p.I520I		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	520					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TGGCCACTACGATTTCATCTA	0.488000													35	163					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801778	185801778	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr2:185801778C>T	ENST00000302277.6	+	4	2249	c.1655C>T	c.(1654-1656)tCc>tTc	p.S552F		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	552						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AAAAACATTTCCTGTAAGATC	0.338000													36	8					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33292869	33292869	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr14:33292869G>A	ENST00000280979.4	+	13	6020	c.5850G>A	c.(5848-5850)aaG>aaA	p.K1950K	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1950					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CTGCTGGCAAGGAATTTGTTT	0.383000													32	54					0	0	1	0	0
ABHD16A	7920	broad.mit.edu	37	6	31659452	31659452	+	Silent	SNP	A	A	G			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr6:31659452A>G	ENST00000375842.4	-	9	1076	c.90T>C	c.(88-90)aaT>aaC	p.N30N	XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000440843.2_Silent_p.N216N|ABHD16A_ENST00000395952.3_Silent_p.N249N			O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	249						integral to membrane	hydrolase activity|protein binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						CCCGGCGCCCATTACACTGAG	0.617000													7	54					0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12318066	12318066	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr12:12318066T>A	ENST00000261349.4	-	8	1785	c.1709A>T	c.(1708-1710)gAt>gTt	p.D570V	LRP6_ENST00000543091.1_Missense_Mutation_p.D570V	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	570	Beta-propeller 2.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				AGGCAGCTGATCTATGATCAC	0.438000													94	146					0	0	1	0	0
MEI1	150365	broad.mit.edu	37	22	42141922	42141922	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr22:42141922C>T	ENST00000401548.3	+	14	1612	c.1572C>T	c.(1570-1572)gcC>gcT	p.A524A	MEI1_ENST00000540833.1_Silent_p.A264A|MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000400107.1_5'UTR	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	524							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						AGCCTTCAGCCCAGGAGAATC	0.478000													6	39					0	0	1	0	0
TRAK1	22906	broad.mit.edu	37	3	42244009	42244009	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr3:42244009C>T	ENST00000327628.5	+	13	1909	c.1509C>T	c.(1507-1509)tcC>tcT	p.S503S	TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000449246.1_Silent_p.S429S|TRAK1_ENST00000341421.3_Silent_p.S445S|TRAK1_ENST00000396175.1_Silent_p.S445S	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	503	Interaction with HGS.			S -> P (in Ref. 2; CAH56169).	endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						GGCGGCTGTCCCTGCGCCGGG	0.652000													46	29					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69030872	69030872	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr8:69030872G>A	ENST00000288368.4	+	27	3691	c.3414G>A	c.(3412-3414)atG>atA	p.M1138I		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1138					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GTGATGAAATGGACTCAGGTG	0.428000													36	72					0	0	1	0	0
GJC3	349149	broad.mit.edu	37	7	99521204	99521204	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:99521204C>T	ENST00000312891.2	-	2	803	c.804G>A	c.(802-804)caG>caA	p.Q268Q		NM_181538.2	NP_853516.1	Q8NFK1	CXG3_HUMAN	gap junction protein, gamma 3, 30.2kDa	268						connexon complex|integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					tttgtttttcctgggctaagc	0.423000													9	65					0	0	1	0	0
MSLNL	401827	broad.mit.edu	37	16	830648	830648	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr16:830648G>A	ENST00000293892.3	-	3	352	c.353C>T	c.(352-354)cCt>cTt	p.P118L	MSLNL_ENST00000442466.1_Intron			Q96KJ4	MSLNL_HUMAN	mesothelin-like	0					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						AGTGTGCACAGGTAGGTGACA	0.567000													85	89					0	0	1	0	0
TTC26	79989	broad.mit.edu	37	7	138854082	138854082	+	Silent	SNP	A	A	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:138854082A>T	ENST00000464848.1	+	12	1133	c.1053A>T	c.(1051-1053)ggA>ggT	p.G351G	TTC26_ENST00000343187.4_Silent_p.G320G|TTC26_ENST00000495038.1_Silent_p.G220G|TTC26_ENST00000478836.2_Silent_p.G244G|TTC26_ENST00000430935.1_Silent_p.G351G			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	351							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						TGGTGGGAGGATCAGCTAGTG	0.378000													5	106					0	0	1	0	0
GAB3	139716	broad.mit.edu	37	X	153944401	153944401	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chrX:153944401G>A	ENST00000369575.3	-	2	307	c.276C>T	c.(274-276)tcC>tcT	p.S92S	GAB3_ENST00000496390.1_5'UTR|GAB3_ENST00000424127.2_Silent_p.S92S	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	92	PH.									NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGAATGTACGGGAAGTAGTCT	0.507000													119	22					0	0	1	0	0
WDR91	29062	broad.mit.edu	37	7	134878093	134878093	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:134878093G>A	ENST00000354475.4	-	11	1580	c.1549C>T	c.(1549-1551)Ccg>Tcg	p.P517S	WDR91_ENST00000423565.1_Missense_Mutation_p.P482S|WDR91_ENST00000344400.5_Missense_Mutation_p.P517S	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	517										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						GTGAGGCTCGGAGCTGCTGCC	0.607000													14	115					0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88301126	88301126	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr11:88301126C>T	ENST00000418177.2	-	8	2092	c.1725G>A	c.(1723-1725)tgG>tgA	p.W575*	GRM5_ENST00000305432.5_Nonsense_Mutation_p.W575*|GRM5_ENST00000305447.4_Nonsense_Mutation_p.W575*|GRM5_ENST00000393297.1_Nonsense_Mutation_p.W575*|GRM5_ENST00000455756.2_Nonsense_Mutation_p.W575*			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	575					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CAGGGTCACCCCATCGAAGAT	0.488000													3	15					0	0	1	0	0
XKR5	389610	broad.mit.edu	37	8	6690364	6690364	+	RNA	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr8:6690364G>A	ENST00000518724.1	-	0	267							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		GGACAGCAAGGGCCAGCCACC	0.607000													17	23					0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60768369	60768369	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:60768369G>A	ENST00000303375.5	+	28	4474	c.4072G>A	c.(4072-4074)Ggc>Agc	p.G1358S	MRC2_ENST00000446119.2_Missense_Mutation_p.G224S	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1358	C-type lectin 8.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GGGGCCCCCGGGCTTGGGCCC	0.622000													5	24					0	0	1	0	0
OR52W1	120787	broad.mit.edu	37	11	6220759	6220759	+	Silent	SNP	C	C	T	rs141444024	byFrequency	TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr11:6220759C>T	ENST00000311352.2	+	1	384	c.306C>T	c.(304-306)tgC>tgT	p.C102C		NM_001005178.1	NP_001005178.1	Q6IF63	O52W1_HUMAN	olfactory receptor, family 52, subfamily W, member 1	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)	11		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGCTGTGTGCCTGGTCCAGA	0.582000													4	54					0	0	1	0	0
ING1	3621	broad.mit.edu	37	13	111368020	111368020	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr13:111368020C>T	ENST00000375774.3	+	1	692	c.230C>T	c.(229-231)tCt>tTt	p.S77F	ING1_ENST00000333219.7_Intron|ING1_ENST00000375775.3_Intron|ING1_ENST00000338450.7_Intron|ING1_ENST00000464141.1_Intron	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	77					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GGGCCGTGCTCTTCCGCCCTG	0.672000													8	22					0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51224657	51224657	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr14:51224657T>C	ENST00000245441.5	-	18	3281	c.3091A>G	c.(3091-3093)Atg>Gtg	p.M1031V	NIN_ENST00000324330.9_Missense_Mutation_p.M1031V|NIN_ENST00000530997.2_Missense_Mutation_p.M1031V|NIN_ENST00000389868.3_Intron|NIN_ENST00000382041.3_Missense_Mutation_p.M1031V|NIN_ENST00000382043.4_Intron|NIN_ENST00000453196.1_Missense_Mutation_p.M1031V	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1031					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CTCTGAAGCATTGAGAGAGGA	0.507000			T	PDGFRB	MPD								7	177					0	0	1	0	0
OR51T1	401665	broad.mit.edu	37	11	4903888	4903888	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr11:4903888C>T	ENST00000380378.1	+	1	840	c.840C>T	c.(838-840)ttC>ttT	p.F280F	MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000322049.1_Silent_p.F253F|MMP26_ENST00000477339.1_Intron	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCACTATTTTCTATGTGCCAC	0.498000													13	64					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48556389	48556389	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:48556389C>T	ENST00000435803.1	+	52	13733	c.13709C>T	c.(13708-13710)tCc>tTc	p.S4570F	ABCA13_ENST00000544596.1_Missense_Mutation_p.S300F	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4570					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GCTTTCATTTCCTATGTCTCA	0.408000													124	101					0	0	1	0	0
BRIP1	83990	broad.mit.edu	37	17	59924472	59924472	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:59924472G>A	ENST00000259008.2	-	6	884	c.617C>T	c.(616-618)tCg>tTg	p.S206L	BRIP1_ENST00000577598.1_Missense_Mutation_p.S206L	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	206	Helicase ATP-binding.				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TTTCTGTGGCGAAAAGGAGTT	0.333000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					28	49					0	0	1	0	0
SPATA31C1	441452	broad.mit.edu	37	9	90535776	90535776	+	RNA	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr9:90535776G>A	ENST00000602681.1	+	0	1680																											CCCGCCAAAGGGACACCACAA	0.552000													145	159					0	0	1	0	0
AGPAT9	84803	broad.mit.edu	37	4	84519319	84519319	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr4:84519319C>T	ENST00000395226.2	+	11	1330	c.1112C>T	c.(1111-1113)cCc>cTc	p.P371L	AGPAT9_ENST00000264409.4_Missense_Mutation_p.P371L	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	371					phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				TACATGCCCCCCATGACCAGA	0.473000													11	89					0	0	1	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52004708	52004708	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:52004708G>A	ENST00000291707.3	-	1	335	c.280C>T	c.(280-282)Cac>Tac	p.H94Y		NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	94	Ig-like V-type 1.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CCAAGGAGGTGGAATCGGTCC	0.552000													82	134					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106865239	106865239	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr10:106865239C>T	ENST00000369701.3	+	7	1405	c.1178C>T	c.(1177-1179)tCc>tTc	p.S393F		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	393						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GACATCAGTTCCCTGGTTGTC	0.498000													19	61					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113163263	113163263	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr9:113163263G>A	ENST00000401783.2	-	40	10029	c.9693C>T	c.(9691-9693)ttC>ttT	p.F3231F	SVEP1_ENST00000297826.5_Silent_p.F1157F|SVEP1_ENST00000374469.1_Silent_p.F3208F	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3231	Sushi 30.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ATTCATCGGAGAATGGTGGCT	0.358000													30	11					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151165546	151165546	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr3:151165546C>T	ENST00000282466.3	-	4	2222	c.2223G>A	c.(2221-2223)agG>agA	p.R741R		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	741					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGAAATGCCTCCTATTCTCCC	0.463000													19	29					0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20248547	20248547	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr14:20248547G>A	ENST00000315957.4	+	1	147	c.66G>A	c.(64-66)gaG>gaA	p.E22E		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGACTCGGGAGGTCCAACTAG	0.378000													65	108					0	0	1	0	0
FNDC7	163479	broad.mit.edu	37	1	109271407	109271407	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:109271407C>T	ENST00000370017.3	+	8	1800	c.1523C>T	c.(1522-1524)aCc>aTc	p.T508I	FNDC7_ENST00000271311.2_Missense_Mutation_p.T509I	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	509	Fibronectin type-III 6.					extracellular region				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		GAGTCCTGCACCATGCGGGGC	0.572000													16	76					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45303830	45303830	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr5:45303830G>A	ENST00000303230.4	-	6	1546	c.1489C>T	c.(1489-1491)Caa>Taa	p.Q497*		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	497						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TCTCCAGGTTGAAACACCTCA	0.403000													27	125					0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100551905	100551905	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:100551905G>A	ENST00000319509.7	+	1	656	c.656G>A	c.(655-657)gGa>gAa	p.G219E						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TTCACTAGGGGAAGTACGTCT	0.428000													120	742					0	0	1	0	0
ZNF32	7580	broad.mit.edu	37	10	44140135	44140135	+	Missense_Mutation	SNP	G	G	A	rs144676378		TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr10:44140135G>A	ENST00000395797.1	-	3	373	c.185C>T	c.(184-186)tCg>tTg	p.S62L	ZNF32_ENST00000374433.2_Missense_Mutation_p.S62L|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32_ENST00000485351.1_5'UTR|ZNF32-AS1_ENST00000453284.1_RNA	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	62					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.S62L(3)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		TAGTGTCTTCGAATCTGGGGA	0.458000													26	108					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159687216	159687216	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr6:159687216C>T	ENST00000297267.9	+	21	5585	c.5385C>T	c.(5383-5385)ttC>ttT	p.F1795F	FNDC1_ENST00000340366.6_Silent_p.F1732F	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1795						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		ATCGAAAGTTCGTGGGAGTTG	0.473000													17	51					0	0	1	0	0
ZP3	7784	broad.mit.edu	37	7	76062786	76062786	+	Splice_Site	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:76062786G>A	ENST00000416245.1	+	3	1100		c.e3-1		ZP3_ENST00000394857.3_Splice_Site|ZP3_ENST00000336517.4_Splice_Site			P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)						binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						GTGTCTTTCAGAGAACTGGAA	0.597000													21	114					0	0	1	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1905370	1905370	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr8:1905370C>T	ENST00000518288.1	+	30	4211	c.4048C>T	c.(4048-4050)Cac>Tac	p.H1350Y	ARHGEF10_ENST00000520359.1_Missense_Mutation_p.H1288Y|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.H1351Y|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.H1322Y|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.H1326Y|ARHGEF10_ENST00000521927.1_3'UTR			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	1351					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CCGGCAGCCCCACCAGGAAGA	0.632000													8	12					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167626914	167626914	+	Missense_Mutation	SNP	C	C	T	rs113287543		TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr5:167626914C>T	ENST00000519204.1	+	16	2963	c.2845C>T	c.(2845-2847)Cgc>Tgc	p.R949C	TENM2_ENST00000520394.1_Missense_Mutation_p.R838C|TENM2_ENST00000518659.1_Missense_Mutation_p.R1070C|TENM2_ENST00000403607.2_Missense_Mutation_p.R894C|TENM2_ENST00000545108.1_Missense_Mutation_p.R1070C					teneurin transmembrane protein 2																		TGTGAAACTTCGCTATCTGAG	0.493000													35	145					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25442574	25442574	+	RNA	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr15:25442574G>A	ENST00000424208.1	+	0	1550				SNHG14_ENST00000456576.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						CTGGCCCCGGGAAAATGTCCC	0.602000													21	36					0	0	1	0	0
PCDHA6	56142	broad.mit.edu	37	5	140208462	140208462	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr5:140208462C>T	ENST00000529310.1	+	1	900	c.786C>T	c.(784-786)atC>atT	p.I262I	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.I262I|PCDHA4_ENST00000530339.1_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1												p.I262I(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACAGTTATCAGACTGAATG	0.413000													75	92					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117655918	117655918	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr12:117655918C>T	ENST00000317775.6	-	28	4907	c.4222G>A	c.(4222-4224)Gaa>Aaa	p.E1408K	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.E1442K	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1408					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TTGGTCACTTCGTACGTTCGC	0.488000													225	56					0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12976551	12976551	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:12976551G>A	ENST00000251472.4	+	16	1864	c.1825G>A	c.(1825-1827)Ggg>Agg	p.G609R		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	609	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GTGGCCCGAGGGGGATGAGGC	0.557000													15	81					0	0	1	0	0
OC90	729330	broad.mit.edu	37	8	133044233	133044233	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr8:133044233C>T	ENST00000262283.5	-	16	1661	c.1562G>A	c.(1561-1563)gGa>gAa	p.G521E	OC90_ENST00000443356.2_Missense_Mutation_p.G325E|OC90_ENST00000603859.1_Missense_Mutation_p.G309E|OC90_ENST00000254627.3_Missense_Mutation_p.G309E			Q02509	OC90_HUMAN	otoconin 90	325					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GAGCATCTCTCCAAGCTGTGG	0.522000													22	47					0	0	1	0	0
HIST1H1B	3009	broad.mit.edu	37	6	27835041	27835041	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr6:27835041G>A	ENST00000331442.3	-	1	318	c.267C>T	c.(265-267)agC>agT	p.S89S		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	89	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						TGCTCACCAAGCTCTTGAGGC	0.577000													237	84					0	0	1	0	0
ASIC2	40	broad.mit.edu	37	17	31415947	31415947	+	Silent	SNP	G	G	A	rs138635070		TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:31415947G>A	ENST00000225823.2	-	3	1793	c.921C>T	c.(919-921)ttC>ttT	p.F307F	ASIC2_ENST00000448983.1_5'UTR|ASIC2_ENST00000359872.6_Silent_p.F256F	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	256					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	GCTCTTGGATGAAAGGTGGCT	0.532000													6	53					0	0	1	0	0
SCAF1	58506	broad.mit.edu	37	19	50161586	50161586	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:50161586C>T	ENST00000360565.3	+	11	3993	c.3869C>T	c.(3868-3870)cCc>cTc	p.P1290L		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1290	Necessary for interaction with the CTD domain of POLR2A.|Pro-rich.				mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CCCCCAGGGCCCCCACGGCCG	0.701000													8	5					0	0	1	0	0
ZNF587B	100293516	broad.mit.edu	37	19	58352661	58352661	+	Missense_Mutation	SNP	T	T	A	rs148810844	by1000genomes	TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:58352661T>A	ENST00000442832.4	+	3	853	c.619T>A	c.(619-621)Ttt>Att	p.F207I	ZNF587B_ENST00000316462.4_Intron|CTD-2583A14.10_ENST00000598031.1_Intron|ZNF587B_ENST00000594901.1_Missense_Mutation_p.F207I	NM_001204818.1	NP_001191747.1	B4DR41	B4DR41_HUMAN	zinc finger protein 587B	207					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.F207I(1)									TGTGTCTCCCTTTCAGTGTGG	0.493000													5	58					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94053707	94053707	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:94053707C>T	ENST00000297268.6	+	41	3096	c.2625C>T	c.(2623-2625)ctC>ctT	p.L875L		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	875					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TTCTGGGTCTCCCTGGCTCGA	0.468000										HNSCC(75;0.22)			16	151					0	0	1	0	0
FSD2	123722	broad.mit.edu	37	15	83434050	83434050	+	Splice_Site	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr15:83434050C>T	ENST00000334574.8	-	11	1869	c.1687_splice	c.e11-1	p.G563_splice	FSD2_ENST00000541889.1_Splice_Site_p.G518_splice			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	563	B30.2/SPRY.									breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						AAAGTAGCTTCCTGTGGGAGG	0.547000													21	24					0	0	1	0	0
ZNF570	148268	broad.mit.edu	37	19	37975717	37975717	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:37975717A>C	ENST00000330173.1	+	5	1722	c.1193A>C	c.(1192-1194)aAt>aCt	p.N398T	ZNF570_ENST00000586475.1_Missense_Mutation_p.N454T|ZNF570_ENST00000388801.3_Missense_Mutation_p.N195T	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTAGCCAGAATTCACACCTT	0.423000													54	68					0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37707543	37707543	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr9:37707543C>T	ENST00000539465.1	+	3	825	c.232C>T	c.(232-234)Ccc>Tcc	p.P78S	FRMPD1_ENST00000377765.3_Missense_Mutation_p.P78S|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	78	PDZ.					cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		TGAGAGCCTTCCCCTTACAGT	0.502000													28	79					0	0	1	0	0
SYT6	148281	broad.mit.edu	37	1	114680389	114680389	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:114680389G>A	ENST00000393296.1	-	3	876	c.799C>T	c.(799-801)Cct>Tct	p.P267S	SYT6_ENST00000369547.1_Missense_Mutation_p.P182S			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	267	C2 1.				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGACATAAGGGTCAGAGCTT	0.532000													19	86					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61757427	61757427	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr8:61757427G>A	ENST00000423902.2	+	22	5334	c.4855G>A	c.(4855-4857)Gga>Aga	p.G1619R	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1619					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TTGCAGTTGGGGACGGTGGAC	0.468000													13	28					0	0	1	0	0
MLLT10	8028	broad.mit.edu	37	10	21962837	21962837	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr10:21962837C>T	ENST00000377072.3	+	11	1958	c.1610C>T	c.(1609-1611)cCa>cTa	p.P537L	MLLT10_ENST00000377059.3_Missense_Mutation_p.P537L|MLLT10_ENST00000307729.7_Missense_Mutation_p.P537L|MLLT10_ENST00000446906.2_Missense_Mutation_p.P537L	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	537	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GGCTCATCTCCAGTTGGTTCA	0.448000			T	"""MLL, PICALM, CDK6"""	AL								8	41					0	0	1	0	0
RP11-337C18.8	0	broad.mit.edu	37	1	146650730	146650730	+	RNA	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:146650730G>A	ENST00000607149.1	+	0	350																											CGCGTGATGGGAATGCTCTGG	0.478000													29	175					0	0	1	0	0
C4orf17	84103	broad.mit.edu	37	4	100463150	100463150	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr4:100463150C>T	ENST00000326581.4	+	9	1326	c.964C>T	c.(964-966)Cct>Tct	p.P322S		NM_032149.2	NP_115525.2	Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	322										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		ACCAAATTCTCCTCCCAGGCC	0.408000													37	44					0	0	1	0	0
MEI1	150365	broad.mit.edu	37	22	42141921	42141921	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr22:42141921C>T	ENST00000401548.3	+	14	1611	c.1571C>T	c.(1570-1572)gCc>gTc	p.A524V	MEI1_ENST00000540833.1_Missense_Mutation_p.A264V|MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000400107.1_5'UTR	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	524							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GAGCCTTCAGCCCAGGAGAAT	0.483000													7	40					0	0	1	0	0
CPEB1	64506	broad.mit.edu	37	15	83224829	83224829	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr15:83224829G>A	ENST00000563800.1	-	5	2456	c.731C>T	c.(730-732)tCa>tTa	p.S244L	CPEB1_ENST00000568757.1_Missense_Mutation_p.S142L|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568128.1_Missense_Mutation_p.S217L|CPEB1_ENST00000562019.1_Missense_Mutation_p.S217L|CPEB1_ENST00000450751.2_Missense_Mutation_p.S142L|CPEB1_ENST00000423133.2_Missense_Mutation_p.S142L|CPEB1_ENST00000398591.2_Missense_Mutation_p.S142L|CPEB1_ENST00000398592.2_5'UTR|CPEB1_ENST00000261723.6_Missense_Mutation_p.S220L|CPEB1_ENST00000564522.1_Missense_Mutation_p.S142L			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	217					mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			ACCACCCCCTGACAGAGACAG	0.512000													5	25					0	0	1	0	0
IFT122	55764	broad.mit.edu	37	3	129195306	129195306	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr3:129195306C>T	ENST00000296266.3	+	11	1310	c.1118C>T	c.(1117-1119)tCc>tTc	p.S373F	IFT122_ENST00000347300.2_Missense_Mutation_p.S263F|IFT122_ENST00000507564.1_Missense_Mutation_p.S314F|IFT122_ENST00000440957.2_Missense_Mutation_p.S113F|IFT122_ENST00000431818.2_Missense_Mutation_p.S172F|IFT122_ENST00000504021.1_Missense_Mutation_p.S216F|IFT122_ENST00000349441.2_Missense_Mutation_p.S211F|IFT122_ENST00000348417.2_Missense_Mutation_p.S322F	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	322					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						GAGCAGAACTCCTGGGTGTGG	0.512000													19	121					0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	587429	587429	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr11:587429T>G	ENST00000264555.5	+	4	513	c.385T>G	c.(385-387)Tac>Gac	p.Y129D	PHRF1_ENST00000413872.2_Missense_Mutation_p.Y128D|PHRF1_ENST00000416188.2_Missense_Mutation_p.Y129D|PHRF1_ENST00000533464.1_Missense_Mutation_p.Y125D	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	129							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CTGTGCCCATTACTTCTGCCT	0.547000													31	70					0	0	1	0	0
ZNF624	57547	broad.mit.edu	37	17	16527755	16527755	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:16527755C>T	ENST00000311331.7	-	6	536	c.445G>A	c.(445-447)Gag>Aag	p.E149K		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		AGTATGGCCTCCTGTGATAAA	0.393000													19	111					0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51412232	51412232	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr11:51412232G>A	ENST00000319760.6	-	1	216	c.164C>T	c.(163-165)tCc>tTc	p.S55F		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	55				GSP -> CSA (in Ref. 1; BAC05754).	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				ATACATTGGGGAACCCAAGGA	0.408000													15	45					0	0	1	0	0
NBR2	10230	broad.mit.edu	37	17	41297029	41297029	+	RNA	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:41297029G>A	ENST00000460115.1	+	0	1243					NR_003108.1																						AGCCCAAGAGGAGATCAGCGC	0.542000													3	23					0	0	1	0	0
GALNT18	374378	broad.mit.edu	37	11	11394176	11394176	+	Splice_Site	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr11:11394176C>T	ENST00000227756.4	-	6	1389	c.977_splice	c.e6-1	p.R326_splice		NM_198516.2	NP_940918.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18																		GGGCAGGGCTCCTGCAGGGGC	0.597000													26	22					0	0	1	0	0
EXD1	161829	broad.mit.edu	37	15	41482192	41482192	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr15:41482192C>T	ENST00000314992.5	-	9	1015	c.825G>A	c.(823-825)gtG>gtA	p.V275V	EXD1_ENST00000458580.2_Silent_p.V333V	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	275					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						GGTAACCATCCACCAGGGTGG	0.527000													21	93					0	0	1	0	0
DOT1L	84444	broad.mit.edu	37	19	2211110	2211110	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:2211110C>T	ENST00000398665.3	+	15	1400	c.1364C>T	c.(1363-1365)tCc>tTc	p.S455F		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	455				RSPHSPFYQLPPSV -> TLRTPSGSPRRTKL (in Ref. 3).		nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCTACAGATCCCCTCACAGC	0.697000													47	81					0	0	1	0	0
UBXN1	51035	broad.mit.edu	37	11	62445419	62445419	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr11:62445419C>T	ENST00000294119.2	-	5	593	c.462G>A	c.(460-462)aaG>aaA	p.K154K	UBXN1_ENST00000524762.1_5'UTR|UBXN1_ENST00000533000.1_Silent_p.K12K|UBXN1_ENST00000301935.5_Silent_p.K154K|UBXN1_ENST00000529640.1_Silent_p.K154K	NM_015853.3	NP_056937.2	Q04323	UBXN1_HUMAN	UBX domain protein 1	154	Interaction with BRCA1.			K -> N (in Ref. 1; AAA36396).	negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding			endometrium(5)|lung(12)	17						ACTCCTCGGCCTTTTCCCTCC	0.532000													11	39					0	0	1	0	0
TGIF1	7050	broad.mit.edu	37	18	3452058	3452058	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr18:3452058C>T	ENST00000330513.5	+	1	384	c.81C>T	c.(79-81)tcC>tcT	p.S27S	TGIF1_ENST00000407501.2_Intron|TGIF1_ENST00000405385.3_Intron|TGIF1_ENST00000401449.1_Intron|TGIF1_ENST00000345133.5_Intron|TGIF1_ENST00000343820.5_Intron|TGIF1_ENST00000577543.1_Intron|TGIF1_ENST00000551541.1_Intron|TGIF1_ENST00000551402.1_Intron|TGIF1_ENST00000548489.2_Intron	NM_170695.2	NP_733796.2	Q15583	TGIF1_HUMAN	TGFB-induced factor homeobox 1	27					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				GCTCTGATTCCTTTCCATGGC	0.667000													42	41					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13868073	13868073	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr5:13868073C>T	ENST00000265104.4	-	25	3967	c.3863G>A	c.(3862-3864)gGa>gAa	p.G1288E	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1288	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			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)					TATCAGAAGTCCATATCTGTT	0.388000									Kartagener syndrome				5	63					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11642247	11642247	+	Silent	SNP	C	C	T	rs139063832		TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:11642247C>T	ENST00000262442.3	+	29	5933	c.5865C>T	c.(5863-5865)ttC>ttT	p.F1955F	DNAH9_ENST00000454412.2_Silent_p.F1955F	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1955	AAA 1 (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)		GGTTCAGCTTCCTTGGGGAGG	0.473000													13	89					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128489578	128489578	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:128489578C>T	ENST00000325888.8	+	30	5406	c.5145C>T	c.(5143-5145)gtC>gtT	p.V1715V	FLNC_ENST00000346177.6_Silent_p.V1715V	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1715					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GCAAGTACGTCATCACCATCC	0.597000													37	89					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9063438	9063438	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:9063438G>A	ENST00000397910.4	-	3	24211	c.24008C>T	c.(24007-24009)tCa>tTa	p.S8003L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8005	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						CGTGAGGAGTGAAGTCACAGG	0.468000													13	72					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55135510	55135510	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr11:55135510G>A	ENST00000314706.3	+	1	151	c.151G>A	c.(151-153)Ggg>Agg	p.G51R		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GAACCCTGAGGGGCAAAAGGT	0.448000													17	54					0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2138228	2138228	+	Splice_Site	SNP	A	A	C	rs137854251		TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr16:2138228A>C	ENST00000219476.3	+	41	5791	c.5160_splice	c.e41-1	p.M1721_splice	TSC2_ENST00000568454.1_Splice_Site_p.M1665_splice|TSC2_ENST00000439673.2_Splice_Site_p.M1618_splice|TSC2_ENST00000401874.2_Splice_Site_p.M1654_splice|TSC2_ENST00000350773.4_Splice_Site_p.M1698_splice|TSC2_ENST00000353929.4_Splice_Site_p.M1678_splice|TSC2_ENST00000382538.6_Splice_Site_p.M1606_splice	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1721	Rap-GAP.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				ACGTCCCCAGATGGCCTCACA	0.647000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				9	117					0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74043101	74043101	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr2:74043101C>T	ENST00000409561.1	+	3	1872	c.1751C>T	c.(1750-1752)tCt>tTt	p.S584F		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	584	Lys-rich.									cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TCCAAGAAATCTGAAGAGAGT	0.438000													7	19					0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223176830	223176830	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:223176830C>T	ENST00000284476.6	+	8	2255	c.2091C>T	c.(2089-2091)gcC>gcT	p.A697A		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	697					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TACTCTTTGCCATTTCAGAAG	0.393000													19	179					0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139906601	139906601	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr9:139906601G>A	ENST00000265662.5	-	34	5460	c.5313C>T	c.(5311-5313)acC>acT	p.T1771T	ABCA2_ENST00000371605.3_Silent_p.T1770T|ABCA2_ENST00000341511.6_Silent_p.T1771T			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1770					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TGGGGTGGTTGGTGACGGTGA	0.721000													25	23					0	0	1	0	0
GTPBP1	9567	broad.mit.edu	37	22	39122148	39122148	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr22:39122148C>T	ENST00000216044.5	+	7	1444	c.1211C>T	c.(1210-1212)tCc>tTc	p.S404F	GTPBP1_ENST00000460605.1_3'UTR	NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	404					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					GACACCTACTCCGTCCCGGTA	0.592000													20	65					0	0	1	0	0
ELSPBP1	64100	broad.mit.edu	37	19	48523019	48523019	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:48523019C>T	ENST00000339841.2	+	5	577	c.399C>T	c.(397-399)tcC>tcT	p.S133S	ELSPBP1_ENST00000597519.1_Intron	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	133	Fibronectin type-II 3.				single fertilization	extracellular region				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		TCTTCCCCTCCATCTACAGAA	0.458000													11	64					0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432905	140432905	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr5:140432905C>T	ENST00000306549.3	+	1	1927	c.1850C>T	c.(1849-1851)tCt>tTt	p.S617F		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		617	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGTTATTTTCTGTTCAAAGA	0.433000													9	123					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84651654	84651654	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr15:84651654G>A	ENST00000286744.5	+	21	3498	c.3274G>A	c.(3274-3276)Gat>Aat	p.D1092N	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.D1092N	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1092						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			ATATAGCATGGATACAGCCCA	0.473000													31	51					0	0	1	0	0
OR7D4	125958	broad.mit.edu	37	19	9324798	9324798	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:9324798G>A	ENST00000308682.2	-	1	744	c.716C>T	c.(715-717)tCc>tTc	p.S239F		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						TCCACAGGTGGAAAAGGCTTT	0.512000													44	55					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96058147	96058147	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr10:96058147G>T	ENST00000260766.3	+	24	5813	c.5179G>T	c.(5179-5181)Ggc>Tgc	p.G1727C	PLCE1_ENST00000371385.3_Missense_Mutation_p.G1419C|PLCE1_ENST00000371375.1_Missense_Mutation_p.G1419C|PLCE1_ENST00000371380.2_Missense_Mutation_p.G1727C	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1727	Required for activation by RHOA, RHOB, GNA12, GNA13 and G-beta gamma (By similarity).				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)				TTCCTGTGAAGGCATTCGACA	0.428000													36	26					4.92203e-23	5.04292e-23	1	1	0
KCTD11	147040	broad.mit.edu	37	17	7256553	7256553	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:7256553C>T	ENST00000333751.3	+	1	1346	c.292C>T	c.(292-294)Ccc>Tcc	p.P98S	RP11-542C16.1_ENST00000572417.1_RNA	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11	98					cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				AGATGTCAGCCCCCGCCTGGT	0.657000													14	62					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34238290	34238290	+	Silent	SNP	G	G	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:34238290G>T	ENST00000373381.4	-	13	1902	c.1726C>A	c.(1726-1728)Cgg>Agg	p.R576R	CSMD2_ENST00000338325.1_Silent_p.R184R	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	536	Sushi 3.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGGTGAAACCGGGAGCCTTCC	0.537000													13	73					1.52009e-12	1.55198e-12	1	1	0
MUC16	94025	broad.mit.edu	37	19	9058191	9058191	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:9058191G>A	ENST00000397910.4	-	3	29458	c.29255C>T	c.(29254-29256)tCc>tTc	p.S9752F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9754	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						AAGAGGAGAGGAGGGGCTACT	0.473000													13	60					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51200890	51200890	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:51200890G>A	ENST00000293441.1	-	13	1911	c.1893C>T	c.(1891-1893)ttC>ttT	p.F631F	SHANK1_ENST00000391814.1_Silent_p.F631F|SHANK1_ENST00000359082.3_Silent_p.F631F	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	631					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TATAATGCCGGAAGAGTCTCT	0.537000													20	110					0	0	1	0	0
IL36B	27177	broad.mit.edu	37	2	113780266	113780266	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr2:113780266C>T	ENST00000259213.4	-	6	587	c.480G>A	c.(478-480)atG>atA	p.M160I		NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	160					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						TCCTTCCTGGCATTCCTATGT	0.423000													31	24					0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5038536	5038536	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:5038536G>A	ENST00000574788.1	+	16	2732	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K	USP6_ENST00000332776.4_Missense_Mutation_p.E168K|USP6_ENST00000250066.6_Missense_Mutation_p.E168K|USP6_ENST00000304328.5_5'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	168	Rab-GAP TBC.				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TAGGCAGAGGGAACTATTCTA	0.468000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								16	158					0	0	1	0	0
GZMM	3004	broad.mit.edu	37	19	549118	549118	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:549118G>A	ENST00000264553.3	+	4	583	c.545G>A	c.(544-546)tGg>tAg	p.W182*		NM_001258351.1|NM_005317.3	NP_001245280.1|NP_005308.1	P51124	GRAM_HUMAN	granzyme M (lymphocyte met-ase 1)	182	Peptidase S1.				apoptosis|cytolysis|innate immune response|proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(1)|large_intestine(1)|prostate(1)	3		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCCGCTTCTGGAACGGCAGC	0.701000													3	5					0	0	1	0	0
CENPT	80152	broad.mit.edu	37	16	67862711	67862711	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr16:67862711C>T	ENST00000562787.1	-	14	1864	c.1316G>A	c.(1315-1317)aGg>aAg	p.R439K	CENPT_ENST00000564817.1_Missense_Mutation_p.R384K|CENPT_ENST00000219172.3_Missense_Mutation_p.R439K|CENPT_ENST00000440851.2_Missense_Mutation_p.R439K	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	439					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		AGGGGGATGCCTGACCAACAG	0.577000													15	85					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82833505	82833505	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr5:82833505C>T	ENST00000265077.3	+	8	5248	c.4683C>T	c.(4681-4683)gcC>gcT	p.A1561A	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Silent_p.A574A|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1561	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AGAAAATAGCCTTTGCAAGGG	0.413000													15	63					0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9225313	9225313	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr12:9225313G>A	ENST00000318602.7	-	30	4218	c.3911C>T	c.(3910-3912)tCa>tTa	p.S1304L		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1304					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	CTCTGGCAATGAGACCTGCTG	0.522000													113	109					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21913063	21913063	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:21913063G>A	ENST00000328843.6	+	75	12191	c.12160G>A	c.(12160-12162)Gaa>Aaa	p.E4054K	DNAH11_ENST00000409508.3_Missense_Mutation_p.E4047K			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4054	AAA 6 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GATCACTAATGAACCCCCAAC	0.473000									Kartagener syndrome				7	79					0	0	1	0	0
DCTN1	1639	broad.mit.edu	37	2	74593064	74593064	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr2:74593064G>A	ENST00000361874.3	-	24	3159	c.2842C>T	c.(2842-2844)Cga>Tga	p.R948*	DCTN1_ENST00000409240.1_Nonsense_Mutation_p.R911*|DCTN1_ENST00000409567.3_Nonsense_Mutation_p.R928*|DCTN1_ENST00000409868.1_Nonsense_Mutation_p.R931*|DCTN1_ENST00000407639.2_Nonsense_Mutation_p.R814*|DCTN1_ENST00000409438.1_Nonsense_Mutation_p.R814*|DCTN1_ENST00000394003.3_Nonsense_Mutation_p.R941*	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	948					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						ACTGTCTCTCGATCTTCGAGC	0.522000													30	105					0	0	1	0	0
NUP155	9631	broad.mit.edu	37	5	37364477	37364477	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr5:37364477G>A	ENST00000231498.3	-	2	370	c.167C>T	c.(166-168)aCc>aTc	p.T56I	NUP155_ENST00000381843.2_5'UTR|NUP155_ENST00000513532.1_Missense_Mutation_p.T56I	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	56					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCCAGAAACGGTGGGATTATC	0.413000													5	47					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147092834	147092834	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:147092834C>T	ENST00000361727.3	+	10	2148	c.1632C>T	c.(1630-1632)ttC>ttT	p.F544F		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	544	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.F544L(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CGGGAAGTTTCGCGAATGTCA	0.438000										HNSCC(39;0.1)			27	294					0	0	1	0	0
ZNF529	57711	broad.mit.edu	37	19	37038281	37038281	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:37038281G>A	ENST00000334116.7	-	6	1474	c.864C>T	c.(862-864)ccC>ccT	p.P288P	ZNF529_ENST00000591340.1_Silent_p.P393P	NM_001145650.1	NP_001139122.1	Q6P280	ZN529_HUMAN	zinc finger protein 529	360					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	Esophageal squamous(110;0.198)					TGCATTCATAGGGTTTCTTAC	0.388000													26	162					0	0	1	0	0
GOLGA2	2801	broad.mit.edu	37	9	131019928	131019928	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr9:131019928C>T	ENST00000421699.2	-	24	2601	c.2589G>A	c.(2587-2589)gaG>gaA	p.E863E		NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	863						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						ACTCCTCCTTCTCCCGGTGCC	0.622000													114	57					0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	16003245	16003245	+	Splice_Site	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:16003245C>T	ENST00000221700.5	-	5	494	c.397_splice	c.e5-1	p.G133_splice	CYP4F2_ENST00000592328.1_Splice_Site_p.G133_splice|CYP4F2_ENST00000011989.7_5'UTR	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	133					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGAGCCCATCCCCTAGCAGGG	0.592000													54	79					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204985599	204985599	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:204985599G>A	ENST00000367172.4	+	32	4304	c.3976G>A	c.(3976-3978)Gag>Aag	p.E1326K	NFASC_ENST00000367169.4_Missense_Mutation_p.E1050K|NFASC_ENST00000360049.4_Missense_Mutation_p.E1148K|NFASC_ENST00000401399.1_Missense_Mutation_p.E1219K|NFASC_ENST00000339876.6_Missense_Mutation_p.E1219K|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000539706.1_Missense_Mutation_p.E1153K|NFASC_ENST00000338515.6_Missense_Mutation_p.E1236K|NFASC_ENST00000367171.4_Missense_Mutation_p.E1311K|NFASC_ENST00000404907.1_Missense_Mutation_p.E1153K|NFASC_ENST00000338586.6_Missense_Mutation_p.E1203K|NFASC_ENST00000404076.1_Missense_Mutation_p.E1136K|NFASC_ENST00000513543.1_Missense_Mutation_p.E1148K|NFASC_ENST00000367170.4_Missense_Mutation_p.E1247K			O94856	NFASC_HUMAN	neurofascin	1326					axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AAAGGACAAGGAGGAAACAGA	0.572000													17	109					0	0	1	0	0
HLA-DPA1	3113	broad.mit.edu	37	6	33036887	33036887	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr6:33036887G>A	ENST00000419277.1	-	4	666	c.537C>T	c.(535-537)ttC>ttT	p.F179F	HLA-DPA1_ENST00000428995.1_Silent_p.F179F	NM_001242524.1|NM_001242525.1	NP_001229453.1|NP_001229454.1	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP alpha 1	179	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						TCAGGTAATGGAACTTGTGGA	0.577000													41	325					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9057895	9057895	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:9057895C>T	ENST00000397910.4	-	3	29754	c.29551G>A	c.(29551-29553)Gat>Aat	p.D9851N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9853	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						ACAGTGGTATCGTCCACAGCG	0.478000													14	138					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124380791	124380791	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr10:124380791G>A	ENST00000368909.3	+	41	5222	c.5116G>A	c.(5116-5118)Gat>Aat	p.D1706N	DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Missense_Mutation_p.D1078N|DMBT1_ENST00000344338.3_Missense_Mutation_p.D1696N|DMBT1_ENST00000330163.4_Missense_Mutation_p.D1078N|DMBT1_ENST00000338354.3_Missense_Mutation_p.D1706N|DMBT1_ENST00000368955.3_Missense_Mutation_p.D1696N	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1706	SRCR 13.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGTCCTGGATGATGTGCGCTG	0.612000													39	117					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33962623	33962623	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr15:33962623T>G	ENST00000389232.4	+	38	5796	c.5726T>G	c.(5725-5727)gTt>gGt	p.V1909G	RYR3_ENST00000415757.3_Missense_Mutation_p.V1909G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1909	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.V1909G(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTGCTAGGGGTTCCTTTggaa	0.473000													7	19					0	0	1	0	0
FZD10	11211	broad.mit.edu	37	12	130648340	130648340	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr12:130648340G>A	ENST00000539839.1	+	1	1337	c.755G>A	c.(754-756)cGc>cAc	p.R252H	FZD10_ENST00000229030.4_Missense_Mutation_p.A285T	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	0					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.A285S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CTTCGCCGGCGCCGAGAGCAT	0.657000													24	93					0	0	1	0	0
EXT2	2132	broad.mit.edu	37	11	44129352	44129352	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr11:44129352C>T	ENST00000395673.3	+	2	245	c.189C>T	c.(187-189)ttC>ttT	p.F63F	EXT2_ENST00000358681.4_Silent_p.F30F|EXT2_ENST00000533608.1_Silent_p.F30F|EXT2_ENST00000343631.3_Silent_p.F30F	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	30					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						TCACCCTCTTCTCCATTGTCC	0.493000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				91	79					0	0	1	0	0
GRB10	2887	broad.mit.edu	37	7	50680500	50680500	+	Silent	SNP	A	A	G			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:50680500A>G	ENST00000403097.1	-	12	1894	c.1114T>C	c.(1114-1116)Ttg>Ctg	p.L372L	GRB10_ENST00000335866.3_Silent_p.L320L|GRB10_ENST00000407526.1_Silent_p.L320L|GRB10_ENST00000398810.2_Silent_p.L320L|GRB10_ENST00000402578.1_Silent_p.L320L|GRB10_ENST00000398812.2_Silent_p.L378L|GRB10_ENST00000406641.1_Silent_p.L320L|GRB10_ENST00000401949.1_Silent_p.L378L|GRB10_ENST00000357271.5_Silent_p.L332L|GRB10_ENST00000402497.1_Silent_p.L320L|GRB10_ENST00000439599.1_Silent_p.L372L			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	378	PH.				insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					GCACAGAGCAACCTCAGCTCT	0.473000									Russell-Silver syndrome				8	36					0	0	1	0	0
FAM83H	286077	broad.mit.edu	37	8	144808695	144808695	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr8:144808695C>T	ENST00000388913.3	-	5	3061	c.2936G>A	c.(2935-2937)cGg>cAg	p.R979Q		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	979					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTCCATGCGCCGCTCGCCCTT	0.706000													6	25					0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120475079	120475079	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr9:120475079G>A	ENST00000355622.6	+	3	774	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K	TLR4_ENST00000394487.4_Missense_Mutation_p.E185K|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	225					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TGCATTTAAAGAAATTAGGCT	0.373000													17	69					0	0	1	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520801	33520801	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:33520801C>T	ENST00000297307.5	-	1	611	c.526G>A	c.(526-528)Gga>Aga	p.G176R		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	176						integral to membrane											GTCCAGAGTCCAGGTCCCACA	0.607000													56	246					0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325003	150325003	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:150325003C>T	ENST00000328902.5	-	3	899	c.683G>A	c.(682-684)gGa>gAa	p.G228E	GIMAP6_ENST00000493969.1_3'UTR	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	228							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTAATAATCTCCTTCGTTTTC	0.512000													89	310					0	0	1	0	0
ULK1	8408	broad.mit.edu	37	12	132401071	132401071	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr12:132401071C>T	ENST00000321867.4	+	20	2358	c.2007C>T	c.(2005-2007)ccC>ccT	p.P669P		NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	669					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		AGGTGGGACCCTTCCATGGTC	0.706000													45	11					0	0	1	0	0
LPO	4025	broad.mit.edu	37	17	56344821	56344821	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:56344821G>A	ENST00000262290.4	+	12	2121	c.1805G>A	c.(1804-1806)gGg>gAg	p.G602E	LPO_ENST00000421678.2_Missense_Mutation_p.G519E|LPO_ENST00000582328.1_Missense_Mutation_p.G519E|LPO_ENST00000543544.1_Missense_Mutation_p.G543E	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	602					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						GGTCTCTACGGGACCCCTGAC	0.587000													19	53					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57603648	57603648	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr12:57603648G>A	ENST00000243077.3	+	80	12902	c.12436G>A	c.(12436-12438)Gaa>Aaa	p.E4146K		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4146					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CAAGCAGCCCGAAGGTGGGGG	0.632000													8	38					0	0	1	0	0
FOXN1	8456	broad.mit.edu	37	17	26851062	26851062	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:26851062G>A	ENST00000226247.2	+	1	104	c.75G>A	c.(73-75)ggG>ggA	p.G25G	FOXN1_ENST00000579795.1_Silent_p.G25G	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	25					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					AGCGCCAAGGGGACCTCATGC	0.682000													4	25					0	0	1	0	0
FAM91A1	157769	broad.mit.edu	37	8	124792284	124792284	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr8:124792284C>T	ENST00000334705.7	+	7	855	c.609C>T	c.(607-609)ctC>ctT	p.L203L	FAM91A1_ENST00000521166.1_Silent_p.L203L	NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	203										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			GCCCTCAACTCTCTGGATCAC	0.328000													15	35					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9065406	9065406	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:9065406G>A	ENST00000397910.4	-	3	22243	c.22040C>T	c.(22039-22041)aCc>aTc	p.T7347I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7349	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						GGAGGGAGTGGTTGATGTGTC	0.483000													39	36					0	0	1	0	0
CT45A1	541466	broad.mit.edu	37	X	134856789	134856789	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chrX:134856789G>A	ENST00000370741.3	+	5	809	c.564G>A	c.(562-564)atG>atA	p.M188I	CT45A1_ENST00000482795.1_3'UTR	NM_001017417.1	NP_001017417.1	Q5HYN5	CT451_HUMAN	cancer/testis antigen family 45, member A1	188																	TGAAACGTATGATTTGAGAAT	0.368000													39	473					0	0	1	0	0
UPB1	51733	broad.mit.edu	37	22	24891394	24891394	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr22:24891394C>T	ENST00000326010.5	+	1	367	c.23C>T	c.(22-24)tCg>tTg	p.S8L	UPB1_ENST00000382760.2_Missense_Mutation_p.S8L|UPB1_ENST00000413389.2_5'UTR	NM_016327.2	NP_057411.1	Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	8					pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					GAGTGGAAGTCGCTGGAGGAA	0.647000													32	56					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48764858	48764858	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr15:48764858G>A	ENST00000316623.5	-	35	4681	c.4226C>T	c.(4225-4227)tCt>tTt	p.S1409F		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	1409	EGF-like 24; 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)		CAGGTTCTCAGAGCACTCATC	0.512000													13	92					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86089597	86089597	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr14:86089597A>G	ENST00000330753.4	+	2	2506	c.1739A>G	c.(1738-1740)aAc>aGc	p.N580S	FLRT2_ENST00000554746.1_Missense_Mutation_p.N580S	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	580					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TGGAAATACAACCGGGGCCGG	0.517000													16	107					0	0	1	0	0
STAG3	10734	broad.mit.edu	37	7	99795441	99795441	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:99795441G>A	ENST00000426455.1	+	11	1513	c.1106G>A	c.(1105-1107)gGg>gAg	p.G369E	STAG3_ENST00000394018.2_Missense_Mutation_p.G311E|STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000317296.5_Missense_Mutation_p.G369E			Q9UJ98	STAG3_HUMAN	stromal antigen 3	369	SCD.				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCCCTGAAAGGGCTGTACGGT	0.557000													45	87					0	0	1	0	0
MKL2	57496	broad.mit.edu	37	16	14345756	14345756	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr16:14345756C>T	ENST00000571589.1	+	14	2613	c.2441C>T	c.(2440-2442)cCa>cTa	p.P814L	MKL2_ENST00000341243.5_Missense_Mutation_p.P803L|MKL2_ENST00000574045.1_Missense_Mutation_p.P764L|MKL2_ENST00000318282.5_Missense_Mutation_p.P764L	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	803					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACAGTTCTTCCATATCAGAGA	0.398000													49	111					0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12318067	12318067	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr12:12318067C>T	ENST00000261349.4	-	8	1784	c.1708G>A	c.(1708-1710)Gat>Aat	p.D570N	LRP6_ENST00000543091.1_Missense_Mutation_p.D570N	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	570	Beta-propeller 2.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GGCAGCTGATCTATGATCACT	0.438000													94	147					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113395856	113395856	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr8:113395856C>T	ENST00000297405.5	-	37	6215	c.5971G>A	c.(5971-5973)Gat>Aat	p.D1991N	CSMD3_ENST00000352409.3_Missense_Mutation_p.D1921N|CSMD3_ENST00000343508.3_Missense_Mutation_p.D1951N|CSMD3_ENST00000455883.2_Missense_Mutation_p.D1887N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1991	CUB 11.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCCAGAGAATCCCAATTATGT	0.348000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			14	35					0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83935737	83935737	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr15:83935737G>A	ENST00000345382.2	-	3	371	c.286C>T	c.(286-288)Ctc>Ttc	p.L96F	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.L89F	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	96					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TAGAGCATGAGGCTGCTAATA	0.483000													23	36					0	0	1	0	0
COQ2	27235	broad.mit.edu	37	4	84194714	84194714	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr4:84194714G>A	ENST00000311469.4	-	3	626	c.627C>T	c.(625-627)tcC>tcT	p.S209S	COQ2_ENST00000439031.2_Silent_p.S172S|COQ2_ENST00000514935.1_5'UTR|COQ2_ENST00000311461.7_Silent_p.S159S	NM_015697.7	NP_056512.5	Q96H96	COQ2_HUMAN	coenzyme Q2 4-hydroxybenzoate polyprenyltransferase	159					glycerol metabolic process|isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrial membrane	4-hydroxybenzoate decaprenyltransferase activity|4-hydroxybenzoate nonaprenyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)	8		Hepatocellular(203;0.114)				GAAAAACAAAGGACTGAAAAG	0.383000													47	106					0	0	1	0	0
KIF25	3834	broad.mit.edu	37	6	168440778	168440778	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr6:168440778C>T	ENST00000443060.2	+	7	919	c.528C>T	c.(526-528)ctC>ctT	p.L176L	KIF25_ENST00000354419.2_Silent_p.L176L|KIF25_ENST00000351261.3_Silent_p.L176L			Q9UIL4	KIF25_HUMAN	kinesin family member 25	176	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		TGATGGAGCTCGTTCATGGAG	0.597000													9	48					0	0	1	0	0
ZNF284	342909	broad.mit.edu	37	19	44590472	44590472	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:44590472C>T	ENST00000421176.3	+	5	1057	c.841C>T	c.(841-843)Cat>Tat	p.H281Y	ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	281					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				TCAAAGAATCCATACTGGGGA	0.398000													72	89					0	0	1	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7535025	7535025	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:7535025C>T	ENST00000593531.1	+	22	3236	c.3236C>T	c.(3235-3237)cCg>cTg	p.1079_1079insL	ARHGEF18_ENST00000319670.9_Silent_p.P963P|ARHGEF18_ENST00000359920.6_Silent_p.P1121P																							CTGGCTTCCCCGCCCCGAGCC	0.721000													25	132					0	0	1	0	0
TTLL8	164714	broad.mit.edu	37	22	50488593	50488593	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr22:50488593G>A	ENST00000266182.6	-	2	134	c.135C>T	c.(133-135)ttC>ttT	p.F45F	TTLL8_ENST00000440475.1_Silent_p.F45F|TTLL8_ENST00000477219.1_5'UTR					tubulin tyrosine ligase-like family, member 8											NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		GCAAAAAGTGGAACTTCTTCT	0.562000													6	23					0	0	1	0	0
LGALSL	29094	broad.mit.edu	37	2	64683565	64683565	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr2:64683565C>T	ENST00000238875.5	+	4	795	c.341C>T	c.(340-342)cCt>cTt	p.P114L	LGALSL_ENST00000409537.2_Intron	NM_014181.2	NP_054900.2	Q3ZCW2	LEGL_HUMAN	lectin, galactoside-binding-like	114	Galectin.					intracellular	sugar binding										TCAGCAATCCCTTACTTTCCA	0.507000													57	169					0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1271344	1271344	+	Splice_Site	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr2:1271344G>A	ENST00000308624.5	+	14	1413		c.e14+1		SNTG2_ENST00000407292.1_Splice_Site	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2						central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GAGAACCGGGGTAAGTGAACA	0.507000													4	18					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10348361	10348361	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:10348361G>A	ENST00000255381.2	-	37	5508	c.5398C>T	c.(5398-5400)Cgt>Tgt	p.R1800C	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1800					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCATCCAGACGGAGCTGCAGA	0.562000													63	152					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40944419	40944419	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr20:40944419G>A	ENST00000373198.3	-	12	2318	c.2083C>T	c.(2083-2085)Ctc>Ttc	p.L695F	PTPRT_ENST00000356100.2_Missense_Mutation_p.L695F|PTPRT_ENST00000373190.1_Missense_Mutation_p.L695F|PTPRT_ENST00000373193.3_Missense_Mutation_p.L695F|PTPRT_ENST00000373184.1_Missense_Mutation_p.L695F|PTPRT_ENST00000373201.1_Missense_Mutation_p.L695F|PTPRT_ENST00000373187.1_Missense_Mutation_p.L695F	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	695	Fibronectin type-III 4.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AGGGGAGAGAGAGGAGGGTTC	0.498000													16	140					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233334685	233334685	+	Splice_Site	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:233334685C>T	ENST00000258229.8	-	15	3300	c.3066_splice	c.e15+1	p.K1022_splice	PCNXL2_ENST00000488780.2_Splice_Site_p.K155_splice	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1022						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TCACACCTACCTTCACTGCAC	0.468000													8	16					0	0	1	0	0
FAAH2	158584	broad.mit.edu	37	X	57337073	57337073	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chrX:57337073C>A	ENST00000374900.4	+	3	443	c.323C>A	c.(322-324)gCa>gAa	p.A108E		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	108						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						CAAAAGCTTGCAGAGAAGCAG	0.423000										HNSCC(52;0.14)			13	33					0.000151284	0.000152591	1	1	0
SAMD9L	219285	broad.mit.edu	37	7	92762825	92762825	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:92762825G>A	ENST00000318238.4	-	5	3676	c.2460C>T	c.(2458-2460)tcC>tcT	p.S820S	SAMD9L_ENST00000437805.1_Silent_p.S820S|SAMD9L_ENST00000411955.1_Silent_p.S820S	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	820										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTGCTAAAACGGAATGGATGG	0.378000													47	100					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200950211	200950211	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:200950211G>A	ENST00000332129.2	-	28	4133	c.3817C>T	c.(3817-3819)Ccg>Tcg	p.P1273S	KIF21B_ENST00000360529.5_Missense_Mutation_p.P1273S|KIF21B_ENST00000422435.2_Missense_Mutation_p.P1286S|KIF21B_ENST00000461742.2_Missense_Mutation_p.P1286S	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1286					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CCTCCAACCGGGGAGATGATG	0.637000													8	92					0	0	1	0	0
GAGE10	643832	broad.mit.edu	37	X	49161352	49161352	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chrX:49161352G>A	ENST00000407599.3	+	2	107	c.14G>A	c.(13-15)gGa>gAa	p.G5E		NM_001098413.2	NP_001091883.2	A6NGK3	GAG10_HUMAN	G antigen 10	5										breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	Ovarian(276;0.236)					AGTTGGCGAGGAAGATCGACC	0.448000													68	197					0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41765671	41765671	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:41765671G>A	ENST00000301178.4	+	20	2737	c.2547G>A	c.(2545-2547)aaG>aaA	p.K849K	AXL_ENST00000359092.3_Silent_p.K840K|AXL_ENST00000593513.1_Silent_p.K581K	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	849						integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						CAGACCCTAAGGATTCCTGTA	0.597000													5	71					0	0	1	0	0
GTPBP6	8225	broad.mit.edu	37	X	229464	229464	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chrX:229464G>A	ENST00000326153.4	-	2	197	c.198C>T	c.(196-198)ccC>ccT	p.P66P				O43824	GTPB6_HUMAN	GTP binding protein 6 (putative)	295						intracellular	GTP binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)	7		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CGGAGATCACGGGGAACTCCC	0.677000													15	29					0	0	1	0	0
LTN1	26046	broad.mit.edu	37	21	30365231	30365231	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr21:30365231C>T	ENST00000389194.2	-	1	39	c.34G>A	c.(34-36)Gga>Aga	p.G12R	LTN1_ENST00000361371.4_5'UTR|LTN1_ENST00000389195.2_Missense_Mutation_p.G12R			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	0							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TAATAACTTCCCCCGGGCCCT	0.642000													9	9					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39025783	39025783	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:39025783G>A	ENST00000355481.4	+	79	11478	c.11347G>A	c.(11347-11349)Gag>Aag	p.E3783K	RYR1_ENST00000360985.3_Missense_Mutation_p.E3788K|RYR1_ENST00000359596.3_Missense_Mutation_p.E3788K	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3788					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.E3788Q(2)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCCTCCAGGAGAGACAGGTGC	0.557000													8	45					0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43542950	43542950	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr21:43542950C>T	ENST00000400427.1	+	16	3401	c.3005C>T	c.(3004-3006)cCt>cTt	p.P1002L	UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000408989.2_Missense_Mutation_p.P1074L|UMODL1_ENST00000400424.1_Missense_Mutation_p.P874L|UMODL1_ENST00000408910.2_Missense_Mutation_p.P946L	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	946	ZP.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GGTGACTCTCCTGGCAATGAA	0.622000													10	52					0	0	1	0	0
UTS2R	2837	broad.mit.edu	37	17	80332455	80332455	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:80332455C>T	ENST00000313135.2	+	1	303	c.255C>T	c.(253-255)tcC>tcT	p.S85S		NM_018949.1	NP_061822.1	Q9UKP6	UR2R_HUMAN	urotensin 2 receptor	85						integral to membrane|plasma membrane				breast(1)|endometrium(4)|kidney(1)|lung(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			CGGTGGCCTCCATGTACGTCT	0.652000													6	17					0	0	1	0	0
SEC14L4	284904	broad.mit.edu	37	22	30891350	30891350	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr22:30891350G>A	ENST00000392772.2	-	5	429	c.152C>T	c.(151-153)tCc>tTc	p.S51F	SEC14L4_ENST00000255858.7_Missense_Mutation_p.S105F|SEC14L4_ENST00000540456.1_Missense_Mutation_p.S90F|SEC14L4_ENST00000381982.3_Missense_Mutation_p.S105F			Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	105						integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	GGGGTCGAGGGACCCAATGAT	0.547000													37	28					0	0	1	0	0
OR13F1	138805	broad.mit.edu	37	9	107266870	107266870	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr9:107266870C>T	ENST00000334726.2	+	1	416	c.327C>T	c.(325-327)tcC>tcT	p.S109S		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CCATGGGCTCCACTGAGTGTG	0.527000													12	61					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166201247	166201247	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr2:166201247C>T	ENST00000357398.3	+	16	3035	c.2745C>T	c.(2743-2745)tcC>tcT	p.S915S	SCN2A_ENST00000375427.2_Silent_p.S915S|SCN2A_ENST00000375437.2_Silent_p.S915S|SCN2A_ENST00000283256.6_Silent_p.S915S			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	915					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GCAAGATTTCCAATGATTGTG	0.488000													30	151					0	0	1	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291130	141291130	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chrX:141291130G>A	ENST00000247452.3	-	3	991	c.644C>T	c.(643-645)aCc>aTc	p.T215I		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	215	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					ACCCTCATCGGTGAGGCCTAC	0.512000										HNSCC(46;0.14)			98	19					0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142479940	142479940	+	RNA	SNP	C	C	T	rs58649169	by1000genomes	TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:142479940C>T	ENST00000603901.1	+	0	72					NR_001296.3																						ATGACAAGATCGTTGGGGGCT	0.557000													5	106					0	0	1	0	0
DIO1	1733	broad.mit.edu	37	1	54360019	54360019	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:54360019G>A	ENST00000361921.3	+	1	160	c.136G>A	c.(136-138)Gag>Aag	p.E46K	DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000532493.1_Missense_Mutation_p.E46K|DIO1_ENST00000388876.3_Missense_Mutation_p.E46K|DIO1_ENST00000524406.1_Intron|DIO1_ENST00000525202.1_Missense_Mutation_p.E46K|DIO1_ENST00000322679.6_Missense_Mutation_p.E46K	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I	46					hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						GGCCATGGGCGAGAAGACGGG	0.527000													84	55					0	0	1	0	0
TBXAS1	6916	broad.mit.edu	37	7	139655340	139655340	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:139655340C>T	ENST00000263552.6	+	11	1163	c.625C>T	c.(625-627)Ccc>Tcc	p.P209S	TBXAS1_ENST00000411653.1_Missense_Mutation_p.P208S|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000425687.1_Missense_Mutation_p.P141S|TBXAS1_ENST00000448866.1_Missense_Mutation_p.P208S|TBXAS1_ENST00000436047.2_Missense_Mutation_p.P209S|TBXAS1_ENST00000336425.5_Missense_Mutation_p.P208S|TBXAS1_ENST00000416849.2_Missense_Mutation_p.P255S|TBXAS1_ENST00000414508.2_Missense_Mutation_p.P209S|TBXAS1_ENST00000458722.1_Missense_Mutation_p.P254S	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	208					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					CCCTGAGGATCCCTTTGTGAA	0.577000													20	205					0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	66987029	66987029	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:66987029C>T	ENST00000340001.4	-	29	3997	c.3786G>A	c.(3784-3786)caG>caA	p.Q1262Q	ABCA9_ENST00000453985.2_Silent_p.Q1224Q|ABCA9_ENST00000370732.2_Silent_p.Q1262Q	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1262					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TTCTTTCCATCTGGATATCTT	0.383000													19	64					0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36870278	36870278	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr20:36870278C>T	ENST00000279024.4	-	3	526	c.255G>A	c.(253-255)agG>agA	p.R85R		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	85										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CAACTTCATCCCTCAGACAGA	0.577000													47	122					0	0	1	0	0
OR13C5	138799	broad.mit.edu	37	9	107361003	107361003	+	Missense_Mutation	SNP	G	G	A	rs75216399	byFrequency	TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr9:107361003G>A	ENST00000374779.2	-	1	785	c.692C>T	c.(691-693)tCg>tTg	p.S231L		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S231L(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						TCTCCCCTCCGAAGAGCTAAT	0.423000													68	46					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10916370	10916370	+	Splice_Site	SNP	G	G	A	rs150256961	byFrequency	TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr21:10916370G>A	ENST00000298232.7	-	19	1589	c.1222_splice	c.e19+1	p.R408_splice	TPTE_ENST00000342420.5_Splice_Site_p.R388_splice|TPTE_ENST00000361285.4_Splice_Site_p.R426_splice|TPTE_ENST00000415664.2_Intron	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	426					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAGCACTTACGAGGAATCGAA	0.388000													11	97					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50948839	50948839	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr10:50948839G>C	ENST00000374103.4	-	16	2142	c.2057C>G	c.(2056-2058)aCg>aGg	p.T686R	OGDHL_ENST00000432695.1_Missense_Mutation_p.T477R|OGDHL_ENST00000419399.1_Missense_Mutation_p.T629R	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	686					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						AGGCACACACGTCCTGCGGTC	0.627000													31	18					0	0	1	0	0
ZBTB4	57659	broad.mit.edu	37	17	7365299	7365299	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:7365299C>T	ENST00000311403.4	-	4	3341	c.3002G>A	c.(3001-3003)aGg>aAg	p.R1001K	ZBTB4_ENST00000380599.4_Missense_Mutation_p.R1001K	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	1001					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		AACCCCTGCCCTTTCCCCTTC	0.607000													8	79					0	0	1	0	0
OR5V1	81696	broad.mit.edu	37	6	29323426	29323426	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr6:29323426G>A	ENST00000377154.1	-	4	846	c.547C>T	c.(547-549)Cct>Tct	p.P183S	OR5V1_ENST00000543825.1_Missense_Mutation_p.P183S			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATCAGCAAAGGGGGGATGTCA	0.463000													20	127					0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87623852	87623852	+	Silent	SNP	G	G	A	rs35903042	byFrequency	TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr8:87623852G>A	ENST00000320005.5	-	14	1673	c.1626C>T	c.(1624-1626)tcC>tcT	p.S542S		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	542					signal transduction|visual perception	integral to membrane	cGMP binding	p.S542S(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						AATAGAGAACGGATTTCAATC	0.328000													30	41					0	0	1	0	0
CECR1	51816	broad.mit.edu	37	22	17688077	17688077	+	Silent	SNP	C	C	T	rs143138564	by1000genomes	TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr22:17688077C>T	ENST00000399839.1	-	3	696	c.426G>A	c.(424-426)ggG>ggA	p.G142G	CECR1_ENST00000399837.2_Silent_p.G142G|CECR1_ENST00000262607.3_Silent_p.G142G|CECR1_ENST00000449907.2_Silent_p.G100G			Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	142	PRB domain.				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				ACTGCATGATCCCCCTTGGGG	0.527000													19	94					0	0	1	0	0
TM9SF2	9375	broad.mit.edu	37	13	100191742	100191742	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr13:100191742C>T	ENST00000376387.4	+	7	949	c.759C>T	c.(757-759)ccC>ccT	p.P253P		NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	253					transport	endosome membrane|integral to plasma membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					GCTCAGGGCCCCCCATGGACA	0.393000													88	102					0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8234850	8234850	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr8:8234850G>A	ENST00000520004.1	-	3	1333	c.1069C>T	c.(1069-1071)Ccc>Tcc	p.P357S	SGK223_ENST00000330777.4_Missense_Mutation_p.P357S			Q86YV5	SG223_HUMAN		357							ATP binding|non-membrane spanning protein tyrosine kinase activity										TCGAGGTGGGGGACGAAGGGG	0.647000													5	7					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57579562	57579562	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr12:57579562G>A	ENST00000243077.3	+	41	7178	c.6712G>A	c.(6712-6714)Gcc>Acc	p.A2238T		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2238					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GAACGTCATCGCCCTGGCCTT	0.577000													13	51					0	0	1	0	0
ABHD16A	7920	broad.mit.edu	37	6	31659451	31659451	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr6:31659451C>A	ENST00000375842.4	-	9	1077	c.91G>T	c.(91-93)Ggg>Tgg	p.G31W	XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000440843.2_Missense_Mutation_p.G217W|ABHD16A_ENST00000395952.3_Missense_Mutation_p.G250W			O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	250						integral to membrane	hydrolase activity|protein binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						GCCCGGCGCCCATTACACTGA	0.622000													7	55					0.000274275	0.000275691	1	1	0
CERKL	375298	broad.mit.edu	37	2	182402931	182402931	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr2:182402931C>T	ENST00000410087.3	-	13	1679	c.1579G>A	c.(1579-1581)Gaa>Aaa	p.E527K	CERKL_ENST00000374969.2_Missense_Mutation_p.E414K|CERKL_ENST00000409440.3_Missense_Mutation_p.E509K|CERKL_ENST00000374970.2_Missense_Mutation_p.E458K|CERKL_ENST00000339098.5_Missense_Mutation_p.E553K	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	553					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			ATCATTTCTTCCATGCTTCCT	0.299000													5	24					0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	10996530	10996530	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr16:10996530C>G	ENST00000324288.8	+	8	777	c.644C>G	c.(643-645)tCc>tGc	p.S215C	CIITA_ENST00000381835.5_Missense_Mutation_p.S166C|CIITA_ENST00000537380.1_3'UTR	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	215					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	p.S215C(1)		central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TTCTCCAGTTCCTCGTTGAGC	0.512000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								6	61					0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	6030386	6030386	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr12:6030386G>A	ENST00000546188.1	-	3	413	c.342C>T	c.(340-342)ttC>ttT	p.F114F	ANO2_ENST00000327087.8_Silent_p.F114F|ANO2_ENST00000356134.5_Silent_p.F114F			Q9NQ90	ANO2_HUMAN	anoctamin 2	118						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						AGTGGCCAGGGAAGCCTTGGG	0.617000													5	39					0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73021727	73021727	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr11:73021727G>A	ENST00000263674.3	+	1	2394	c.2044G>A	c.(2044-2046)Ggc>Agc	p.G682S		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	682					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GAACCACCATGGCCCTGGGAC	0.657000													9	46					0	0	1	0	0
CD3D	915	broad.mit.edu	37	11	118211182	118211182	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr11:118211182C>T	ENST00000300692.4	-	2	318	c.182G>A	c.(181-183)gGa>gAa	p.G61E	CD3D_ENST00000392884.2_Missense_Mutation_p.G61E|CD3D_ENST00000529594.1_Intron	NM_000732.4	NP_000723.1	P04234	CD3D_HUMAN	CD3d molecule, delta (CD3-TCR complex)	61					positive thymic T cell selection|T cell costimulation|T cell receptor signaling pathway	cytoplasm|integral to membrane	protein heterodimerization activity			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	9	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		GATGCGTTTTCCCAGGTCCAG	0.458000													36	24					0	0	1	0	0
KIAA1407	57577	broad.mit.edu	37	3	113775239	113775239	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr3:113775239C>T	ENST00000295878.3	-	1	221	c.75G>A	c.(73-75)agG>agA	p.R25R	KIAA1407_ENST00000480588.1_5'UTR|KIAA1407_ENST00000545063.1_5'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	25										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GACTCGGCTTCCTTGTGAACC	0.597000													26	131					0	0	1	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140307701	140307701	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr5:140307701C>T	ENST00000253807.2	+	1	1224	c.1224C>T	c.(1222-1224)atC>atT	p.I408I	PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHAC1_ENST00000409700.3_Silent_p.I408I|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAGCAGATCAGTGAATACC	0.517000													7	76					0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	46998957	46998957	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr10:46998957C>T	ENST00000374314.4	+	1	1032	c.77C>T	c.(76-78)tCc>tTc	p.S26F	GPRIN2_ENST00000374317.1_Missense_Mutation_p.S26F			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	26										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CAGAGCTCTTCCAGCCTGCTG	0.697000													31	74					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82579458	82579458	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:82579458C>T	ENST00000423517.2	-	6	10783	c.10446G>A	c.(10444-10446)tgG>tgA	p.W3482*	PCLO_ENST00000437081.1_Nonsense_Mutation_p.W202*|PCLO_ENST00000333891.8_Nonsense_Mutation_p.W3482*	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3413					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TAGGCATATCCCACTCATCCT	0.468000													47	52					0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	15967687	15967687	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr8:15967687C>T	ENST00000350896.3	-	9	1271	c.1074G>A	c.(1072-1074)ggG>ggA	p.G358G	MSR1_ENST00000262101.5_Silent_p.G421G|MSR1_ENST00000445506.2_Silent_p.G439G|MSR1_ENST00000355282.2_Silent_p.G358G	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	421	SRCR.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		ATGATTCTCTCCCAAAACAAA	0.383000													35	52					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10480351	10480351	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr8:10480351C>T	ENST00000382483.3	-	2	584	c.361G>A	c.(361-363)Gag>Aag	p.E121K	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	121					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGGTTTCTCTCCTGTGGCCGG	0.627000													5	20					0	0	1	0	0
SNED1	25992	broad.mit.edu	37	2	242021766	242021766	+	Missense_Mutation	SNP	G	G	A	rs142548282	by1000genomes	TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr2:242021766G>A	ENST00000310397.8	+	29	4108	c.4108G>A	c.(4108-4110)Gtc>Atc	p.V1370I	SNED1_ENST00000405547.3_Missense_Mutation_p.V1337I|SNED1_ENST00000342631.6_Missense_Mutation_p.V1337I	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	1370					cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		GGAGGGAGGCGTCTGTCACCA	0.547000													8	150					0	0	1	0	0
ALDH1B1	219	broad.mit.edu	37	9	38397184	38397184	+	Missense_Mutation	SNP	C	C	G	rs147930374	by1000genomes	TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr9:38397184C>G	ENST00000377698.3	+	2	1592	c.1439C>G	c.(1438-1440)aCg>aGg	p.T480R		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	480					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	ACCTGCCACACGCCATTTGGA	0.562000													11	50					0	0	1	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47564916	47564916	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:47564916G>A	ENST00000334194.3	+	8	1030	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K	CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	343						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						ATGCCGAGATGAAATCAGGGA	0.438000													12	44					0	0	1	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58598280	58598280	+	Silent	SNP	G	G	A	rs142570646		TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:58598280G>A	ENST00000240727.6	-	5	1137	c.738C>T	c.(736-738)ctC>ctT	p.L246L	ZSCAN18_ENST00000600404.1_Silent_p.L302L|ZSCAN18_ENST00000421612.2_Silent_p.L111L|ZSCAN18_ENST00000601144.1_Silent_p.L246L	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	246					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CACCCCACAGGAGCAGCTTCC	0.647000													4	50					0	0	1	0	0
CIAO1	9391	broad.mit.edu	37	2	96936907	96936907	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr2:96936907C>T	ENST00000488633.1	+	7	1057	c.838C>T	c.(838-840)Cag>Tag	p.Q280*		NM_004804.2	NP_004795.1	O76071	CIAO1_HUMAN	cytosolic iron-sulfur protein assembly 1	280					chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter	MMXD complex	protein binding			endometrium(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	5						CCGCGTGTTTCAGGAGGATCC	0.572000													16	67					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61757428	61757428	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr8:61757428G>A	ENST00000423902.2	+	22	5335	c.4856G>A	c.(4855-4857)gGa>gAa	p.G1619E	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1619					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TGCAGTTGGGGACGGTGGACA	0.468000													14	27					0	0	1	0	0
KATNBL1	79768	broad.mit.edu	37	15	34434548	34434548	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr15:34434548A>C	ENST00000256544.3	-	10	1049	c.907T>G	c.(907-909)Tta>Gta	p.L303V		NM_024713.2	NP_078989.1			katanin p80 subunit B-like 1																		TCTCAATGTAACTGTAATAAA	0.279000													16	34					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25486780	25486780	+	RNA	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr15:25486780C>T	ENST00000453082.2	+	0	2099					NR_003343.1																						GTGCTCAGCCCCTGGTGTACT	0.587000													25	40					0	0	1	0	0
TC2N	123036	broad.mit.edu	37	14	92268712	92268712	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr14:92268712G>A	ENST00000435962.2	-	4	678	c.355C>T	c.(355-357)Cag>Tag	p.Q119*	TC2N_ENST00000556018.1_Nonsense_Mutation_p.Q119*|TC2N_ENST00000360594.5_Nonsense_Mutation_p.Q119*|TC2N_ENST00000340892.5_Nonsense_Mutation_p.Q119*	NM_001128596.1	NP_001122068.1	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	119						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		GGTCCGTGCTGGGATGAACTG	0.418000													10	56					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228487685	228487685	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:228487685G>A	ENST00000570156.2	+	51	13651	c.13577G>A	c.(13576-13578)tGg>tAg	p.W4526*	RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000366707.4_Nonsense_Mutation_p.W1216*|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000602685.1_3'UTR|OBSCN_ENST00000359599.6_3'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3569	Fibronectin type-III 3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCCGTGGAGTGGAGAAAGGGG	0.547000													14	113					0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20296339	20296339	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr14:20296339C>T	ENST00000315947.1	+	1	732	c.732C>T	c.(730-732)atC>atT	p.I244I	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCACCCATATCATTGTTATAT	0.493000													49	87					0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2161812	2161812	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr9:2161812C>T	ENST00000382203.1	+	28	4317	c.4108C>T	c.(4108-4110)Cgc>Tgc	p.R1370C	SMARCA2_ENST00000324954.5_Missense_Mutation_p.R34C|SMARCA2_ENST00000382194.1_Missense_Mutation_p.R1370C|SMARCA2_ENST00000382186.1_Missense_Mutation_p.R34C|SMARCA2_ENST00000357248.2_Missense_Mutation_p.R1370C|SMARCA2_ENST00000302401.3_Missense_Mutation_p.R76C|SMARCA2_ENST00000382185.1_Missense_Mutation_p.R34C|SMARCA2_ENST00000349721.2_Missense_Mutation_p.R1370C			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1370					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GAGAAGAGGCCGCCCTCCCGC	0.433000													18	19					0	0	1	0	0
NUF2	83540	broad.mit.edu	37	1	163307842	163307842	+	Silent	SNP	C	C	T	rs144568103		TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:163307842C>T	ENST00000271452.3	+	7	747	c.468C>T	c.(466-468)aaC>aaT	p.N156N	NUF2_ENST00000490881.1_3'UTR|NUF2_ENST00000524800.1_Silent_p.N156N|NUF2_ENST00000367900.3_Silent_p.N156N	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	156	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					AACAGTTAAACGCCGCACACC	0.338000													18	76					0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47989762	47989762	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr20:47989762G>A	ENST00000371741.4	-	2	2501	c.2335C>T	c.(2335-2337)Cct>Tct	p.P779S		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	779					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GTGCTCCCAGGGAGGCTTTTG	0.542000													55	592					0	0	1	0	0
SEMA6A	57556	broad.mit.edu	37	5	115783141	115783141	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr5:115783141G>A	ENST00000343348.6	-	19	3048	c.2261C>T	c.(2260-2262)gCc>gTc	p.A754V	SEMA6A_ENST00000513137.1_Missense_Mutation_p.A181V|SEMA6A_ENST00000503865.1_Missense_Mutation_p.A133V|SEMA6A_ENST00000510263.1_Missense_Mutation_p.A754V|SEMA6A_ENST00000257414.8_Missense_Mutation_p.A771V|SEMA6A_ENST00000282394.6_Missense_Mutation_p.A231V	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	754					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GGTGGGGAGGGCCGTCAGGTC	0.637000													92	114					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179407584	179407584	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr2:179407584G>A	ENST00000589042.1	-	348	97221	c.96997C>T	c.(96997-96999)Cgt>Tgt	p.R32333C	TTN_ENST00000460472.2_Missense_Mutation_p.R23268C|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R23393C|TTN_ENST00000591111.1_Missense_Mutation_p.R30692C|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R23460C|TTN_ENST00000342992.6_Missense_Mutation_p.R29765C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30692	Protein kinase.						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)			GGAGGTGGACGGCCAGCAATA	0.473000													44	163					0	0	1	0	0
WSCD2	9671	broad.mit.edu	37	12	108589781	108589781	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr12:108589781C>T	ENST00000332082.4	+	3	990	c.172C>T	c.(172-174)Cca>Tca	p.P58S	WSCD2_ENST00000547525.1_Missense_Mutation_p.P58S|WSCD2_ENST00000549903.1_Missense_Mutation_p.P58S|WSCD2_ENST00000261400.3_Missense_Mutation_p.P58S			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	58						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						TGCAGGAGGCCCAGCTGAGGG	0.617000													66	86					0	0	1	0	0
DNM1	1759	broad.mit.edu	37	9	131008774	131008774	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr9:131008774G>A	ENST00000341179.7	+	16	1865	c.1773G>A	c.(1771-1773)acG>acA	p.T591T	DNM1_ENST00000493925.1_3'UTR|DNM1_ENST00000393594.3_Silent_p.T591T|DNM1_ENST00000372923.3_Silent_p.T591T|DNM1_ENST00000475805.1_Silent_p.T591T|DNM1_ENST00000486160.1_Silent_p.T591T	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN	dynamin 1	591	PH.				receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity	p.T591T(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						TCTTTAACACGGAGCAGAGGT	0.552000													9	31					0	0	1	0	0
FAM131B	9715	broad.mit.edu	37	7	143054427	143054427	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:143054427C>T	ENST00000409408.1	-	5	2180	c.472G>A	c.(472-474)Gag>Aag	p.E158K	FAM131B_ENST00000409578.1_Missense_Mutation_p.E174K|FAM131B_ENST00000409222.3_Missense_Mutation_p.E158K|FAM131B_ENST00000443739.2_Missense_Mutation_p.E186K|FAM131B_ENST00000409346.1_Missense_Mutation_p.E158K			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	158										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					CCCAATGGCTCCTGGGTGGAG	0.542000													14	194					0	0	1	0	0
AHCTF1	25909	broad.mit.edu	37	1	247014101	247014101	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:247014101G>A	ENST00000366508.1	-	33	5448	c.5312C>T	c.(5311-5313)tCc>tTc	p.S1771F	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000391829.2_Missense_Mutation_p.S1736F|AHCTF1_ENST00000326225.3_Missense_Mutation_p.S1745F			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1736	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			AGTTTTGGAGGAAACCACGTC	0.438000													19	125					0	0	1	0	0
KCNK13	56659	broad.mit.edu	37	14	90650761	90650761	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr14:90650761C>T	ENST00000282146.4	+	2	1082	c.641C>T	c.(640-642)gCc>gTc	p.A214V		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	214						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				TGCGCCTCAGCCATGTACACC	0.562000													72	102					0	0	1	0	0
C4orf19	55286	broad.mit.edu	37	4	37590493	37590493	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr4:37590493G>A	ENST00000284437.6	+	2	182	c.4G>A	c.(4-6)Ggg>Agg	p.G2R	C4orf19_ENST00000381980.4_Missense_Mutation_p.G2R|C4orf19_ENST00000508175.1_Missense_Mutation_p.G2R|RP11-36B15.1_ENST00000503034.1_RNA	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	2										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						AATCCAGATGGGGTGCAGGTG	0.373000													10	59					0	0	1	0	0
PPP1R2P1	100507444	broad.mit.edu	37	6	32846988	32846988	+	RNA	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr6:32846988C>T	ENST00000420261.1	-	0	637																											TTGAACAAATCCCTTCTATGA	0.378000													6	16					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75097586	75097586	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:75097586C>T	ENST00000326665.5	-	7	848	c.630G>A	c.(628-630)agG>agA	p.R210R	C1orf173_ENST00000420661.2_Silent_p.R13R	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	210										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTATGGAGTTCCTGAACTTCA	0.393000													17	67					0	0	1	0	0
MAGEA5	4104	broad.mit.edu	37	X	151284162	151284162	+	RNA	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chrX:151284162C>T	ENST00000509345.2	-	0	249																											CAGATCTTCTCCTTTGGTGCT	0.537000													12	43					0	0	1	0	0
RALGAPB	57148	broad.mit.edu	37	20	37154605	37154605	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr20:37154605C>T	ENST00000262879.6	+	13	2254	c.1970C>T	c.(1969-1971)tCc>tTc	p.S657F	RALGAPB_ENST00000397042.3_Missense_Mutation_p.S657F|RALGAPB_ENST00000397038.1_Missense_Mutation_p.S435F|RALGAPB_ENST00000397040.1_Missense_Mutation_p.S657F			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	657					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ACTTTTCTGTCCCTGAAGTTG	0.358000													25	235					0	0	1	0	0
TEPP	374739	broad.mit.edu	37	16	58011806	58011806	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr16:58011806G>A	ENST00000290871.5	+	2	288	c.251G>A	c.(250-252)cGg>cAg	p.R84Q	TEPP_ENST00000569996.1_Intron|TEPP_ENST00000441824.2_Missense_Mutation_p.R84Q	NM_199046.2	NP_950247.2	Q6URK8	TEPP_HUMAN	testis, prostate and placenta expressed	84						extracellular region				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	8						CCCATGGAGCGGCAGCGCAAC	0.662000													21	108					0	0	1	0	0
CPT1C	126129	broad.mit.edu	37	19	50209537	50209537	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:50209537G>A	ENST00000392518.4	+	12	1582	c.1210G>A	c.(1210-1212)Gcc>Acc	p.A404T	CPT1C_ENST00000405931.2_Missense_Mutation_p.A393T|CPT1C_ENST00000323446.5_Missense_Mutation_p.A404T|CPT1C_ENST00000354199.5_Missense_Mutation_p.A404T|CPT1C_ENST00000598293.1_Missense_Mutation_p.A404T	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	404					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GGCAGCGGAGGCCCTGGAGGC	0.701000													4	20					0	0	1	0	0
CLPTM1	1209	broad.mit.edu	37	19	45476362	45476362	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:45476362C>T	ENST00000541297.2	+	3	627	c.162C>T	c.(160-162)gcC>gcT	p.A54A	CLPTM1_ENST00000337392.5_Silent_p.A68A|CLPTM1_ENST00000546079.1_5'UTR			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	68					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		TCATCTGGGCCATCAGCAGTT	0.632000													18	128					0	0	1	0	0
PPM1H	57460	broad.mit.edu	37	12	63131336	63131336	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr12:63131336G>A	ENST00000228705.6	-	5	1200	c.900C>T	c.(898-900)atC>atT	p.I300I		NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	300	PP2C-like.						phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		AAGACATGGGGATAATTTCTC	0.468000													4	14					0	0	1	0	0
SUSD2	56241	broad.mit.edu	37	22	24583182	24583182	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr22:24583182C>T	ENST00000358321.3	+	11	1916	c.1655C>T	c.(1654-1656)tCg>tTg	p.S552L		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	552	VWFD.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						ATGTTCCTGTCGGTGGCTGCC	0.667000													39	31					0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1559236	1559236	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr20:1559236G>A	ENST00000381605.4	-	2	245	c.181C>T	c.(181-183)Cct>Tct	p.P61S	SIRPB1_ENST00000262929.5_Missense_Mutation_p.P60S|RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.P61S|SIRPB1_ENST00000381603.3_Missense_Mutation_p.P61S	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	61	Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GGCCCCACAGGGATCAGGGAC	0.542000													33	78					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21247973	21247973	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr2:21247973G>A	ENST00000233242.1	-	16	2395	c.2268C>T	c.(2266-2268)ctC>ctT	p.L756L	APOB_ENST00000399256.4_Silent_p.L756L	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	756					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCTCAACACTGAGCATTATTC	0.448000													10	85					0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52520558	52520558	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr14:52520558C>T	ENST00000216286.5	-	5	1167	c.1168G>A	c.(1168-1170)Gag>Aag	p.E390K	NID2_ENST00000541773.1_Missense_Mutation_p.E337K	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	390						basement membrane	calcium ion binding|collagen binding	p.E390Q(1)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CTTCTGGTCTCTCTCTCATCC	0.547000													14	44					0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16287555	16287555	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr22:16287555C>T	ENST00000343518.6	-	1	382	c.331G>A	c.(331-333)Ggg>Agg	p.G111R		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	111										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTGCCGCTCCCCCTGCAGCAG	0.587000													133	342					0	0	1	0	0
XXYLT1	152002	broad.mit.edu	37	3	194790594	194790594	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr3:194790594G>A	ENST00000310380.6	-	4	1140	c.1032C>T	c.(1030-1032)ctC>ctT	p.L344L	XXYLT1_ENST00000355729.4_Silent_p.L141L|XXYLT1_ENST00000460582.1_5'UTR|XXYLT1_ENST00000356740.5_Silent_p.L138L|XXYLT1_ENST00000437101.1_Silent_p.L141L|XXYLT1_ENST00000429994.1_Silent_p.L198L	NM_152531.4	NP_689744.3	Q8NBI6	CC021_HUMAN	xyloside xylosyltransferase 1	344						integral to membrane	transferase activity, transferring glycosyl groups										GCACATGGAAGAGCTTGGGGT	0.622000													48	13					0	0	1	0	0
BLM	641	broad.mit.edu	37	15	91352383	91352383	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr15:91352383T>G	ENST00000355112.3	+	20	3886	c.3768T>G	c.(3766-3768)gaT>gaG	p.D1256E	BLM_ENST00000560509.1_Missense_Mutation_p.D1125E|BLM_ENST00000560136.1_3'UTR	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	1256	HRDC.				double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TATCTTCTGATCCTGAGGTTT	0.363000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				24	139					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	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				95	55					0	0	1	0	0
NPNT	255743	broad.mit.edu	37	4	106863676	106863676	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr4:106863676C>T	ENST00000379987.2	+	8	1192	c.976C>T	c.(976-978)Cct>Tct	p.P326S	NPNT_ENST00000514622.1_Missense_Mutation_p.P326S|NPNT_ENST00000506666.1_Missense_Mutation_p.P356S|NPNT_ENST00000453617.2_Missense_Mutation_p.P343S|NPNT_ENST00000427316.2_Missense_Mutation_p.P356S|NPNT_ENST00000305572.8_Missense_Mutation_p.P326S	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	326	Pro-rich.				cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		AACACCAATTCCTACTCCACC	0.512000													45	63					0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46807188	46807188	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:46807188G>A	ENST00000420102.2	+	1	83	c.53G>A	c.(52-54)gGg>gAg	p.G18E	HIF3A_ENST00000339613.2_5'UTR|HIF3A_ENST00000300862.3_Silent_p.R18R|HIF3A_ENST00000244303.6_5'UTR|HIF3A_ENST00000600383.1_5'UTR|HIF3A_ENST00000377670.4_Silent_p.R20R|HIF3A_ENST00000472815.1_5'UTR			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		AAAAGTCCCGGGATGCGGCCC	0.672000													4	14					0	0	1	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7509310	7509310	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:7509310C>T	ENST00000593531.1	+	7	890	c.890C>T	c.(889-891)tCc>tTc	p.S297F	ARHGEF18_ENST00000319670.9_Silent_p.I181I|ARHGEF18_ENST00000359920.6_Silent_p.I339I																							ATTATGTCATCCAGAAAATCG	0.572000													24	40					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18077114	18077114	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:18077114C>T	ENST00000205890.5	+	65	10708	c.10370C>T	c.(10369-10371)cCc>cTc	p.P3457L	MYO15A_ENST00000418233.3_Missense_Mutation_p.P721L|RP11-258F1.1_ENST00000577847.1_RNA|MYO15A_ENST00000451725.2_Intron	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3457	FERM.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GTGAAGTTCCCCCTGAAGGAG	0.637000													13	103					0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120476223	120476223	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr9:120476223G>A	ENST00000355622.6	+	3	1918	c.1817G>A	c.(1816-1818)cGa>cAa	p.R606Q	TLR4_ENST00000394487.4_Missense_Mutation_p.R566Q|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	606	LRRCT.				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.R606Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GAAGTTGAACGAATGGAATGT	0.448000													6	36					0	0	1	0	0
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5664713	5664713	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr11:5664713C>T	ENST00000354852.5	+	14	2476	c.2303C>T	c.(2302-2304)tCt>tTt	p.S768F	TRIM34_ENST00000514226.1_Missense_Mutation_p.S414F|TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.S414F|HBG2_ENST00000380259.2_Intron|TRIM34_ENST00000429814.2_Missense_Mutation_p.S414F|TRIM34_ENST00000495668.1_3'UTR	NM_001003819.3	NP_001003819.1	B2RNG4	B2RNG4_HUMAN		768						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		TTTGAAGAGTCTTTGTCCTCT	0.438000													81	77					0	0	1	0	0
ADAL	161823	broad.mit.edu	37	15	43639285	43639285	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr15:43639285T>A	ENST00000422466.2	+	10	1198	c.624T>A	c.(622-624)caT>caA	p.H208Q	ADAL_ENST00000562188.1_Missense_Mutation_p.H208Q|ADAL_ENST00000389651.4_Missense_Mutation_p.H208Q|ADAL_ENST00000428046.3_Intron			Q6DHV7	ADAL_HUMAN	adenosine deaminase-like	208					adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process		adenosine deaminase activity|metal ion binding			endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)	7		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;9.31e-07)		TAGCATTGCATCTTTCAGAGG	0.353000													10	90					0	0	1	0	0
HTR1A	3350	broad.mit.edu	37	5	63256524	63256524	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr5:63256524C>T	ENST00000323865.3	-	1	1256	c.1023G>A	c.(1021-1023)agG>agA	p.R341R	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	341					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TCACTGTCTTCCTCTCTCGGG	0.607000													72	84					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96022312	96022312	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr10:96022312G>A	ENST00000260766.3	+	14	4510	c.3876G>A	c.(3874-3876)tcG>tcA	p.S1292S	PLCE1_ENST00000371385.3_Silent_p.S984S|PLCE1_ENST00000371375.1_Silent_p.S984S|PLCE1_ENST00000371380.2_Silent_p.S1292S	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1292					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	p.I1285fs*13(1)|p.I977fs*13(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AGCAGCTATCGGACAACCAGA	0.468000													30	114					0	0	1	0	0
CLUH	23277	broad.mit.edu	37	17	2605269	2605269	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:2605269G>A	ENST00000570628.1	-	4	549	c.444C>T	c.(442-444)ttC>ttT	p.F148F	CLUH_ENST00000538975.1_Silent_p.F148F|CLUH_ENST00000575014.1_Silent_p.F80F|CLUH_ENST00000435359.1_Silent_p.F148F					clustered mitochondria (cluA/CLU1) homolog																		CAACCCCGTTGAAGGCATCGG	0.647000													10	34					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133882003	133882003	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr8:133882003C>T	ENST00000220616.4	+	3	246	c.206C>T	c.(205-207)tCc>tTc	p.S69F	TG_ENST00000377869.1_Missense_Mutation_p.S69F	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	69	Thyroglobulin type-1 1.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GACGGCCGCTCCTGCTGGTGT	0.662000													24	25					0	0	1	0	0
CORO2A	7464	broad.mit.edu	37	9	100919807	100919807	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr9:100919807G>A	ENST00000343933.5	-	2	393	c.136C>T	c.(136-138)Cac>Tac	p.H46Y	CORO2A_ENST00000375077.4_Missense_Mutation_p.H46Y	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	46					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GCAATGAAGTGGGGGTTCACG	0.587000													16	47					0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9262586	9262586	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr12:9262586C>T	ENST00000318602.7	-	6	857	c.550G>A	c.(550-552)Gag>Aag	p.E184K		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	184					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	AGGCCACCCTCTAACTGGAAA	0.453000													107	96					0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7765479	7765479	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr10:7765479C>T	ENST00000358415.4	+	9	1099	c.933C>T	c.(931-933)atC>atT	p.I311I	ITIH2_ENST00000379587.4_Silent_p.I300I	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	311	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CCAAAAACATCCTCTTTGTCA	0.418000													20	78					0	0	1	0	0
SYT13	57586	broad.mit.edu	37	11	45265888	45265888	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr11:45265888G>A	ENST00000020926.3	-	6	1107	c.996C>T	c.(994-996)acC>acT	p.T332T		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	332	C2 2.					transport vesicle				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						GGTGCTTCAAGGTCACCTTGA	0.527000													16	71					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2705076	2705076	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr12:2705076G>A	ENST00000399655.1	+	20	2965	c.2700G>A	c.(2698-2700)acG>acA	p.T900T	CACNA1C_ENST00000399629.1_Silent_p.T900T|CACNA1C_ENST00000399601.1_Silent_p.T900T|CACNA1C_ENST00000399649.1_Silent_p.T900T|CACNA1C_ENST00000406454.3_Silent_p.T900T|CACNA1C_ENST00000399644.1_Silent_p.T900T|CACNA1C_ENST00000399606.1_Silent_p.T900T|CACNA1C_ENST00000399591.1_Silent_p.T900T|CACNA1C_ENST00000399621.1_Silent_p.T900T|CACNA1C_ENST00000399641.1_Silent_p.T900T|CACNA1C_ENST00000399595.1_Silent_p.T900T|CACNA1C_ENST00000399597.1_Silent_p.T900T|CACNA1C_ENST00000399638.1_Silent_p.T900T|CACNA1C_ENST00000327702.7_Silent_p.T900T|CACNA1C_ENST00000344100.3_Silent_p.T900T|CACNA1C_ENST00000399637.1_Silent_p.T900T|CACNA1C_ENST00000480911.1_Silent_p.T900T|CACNA1C_ENST00000335762.5_Silent_p.T925T|CACNA1C_ENST00000399603.1_Silent_p.T900T|CACNA1C_ENST00000399617.1_Silent_p.T900T|CACNA1C_ENST00000402845.3_Silent_p.T900T|CACNA1C_ENST00000399634.1_Silent_p.T900T|CACNA1C_ENST00000347598.4_Silent_p.T900T	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	900					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TCAATGACACGATCTTCACCA	0.562000													66	56					0	0	1	0	0
TRIM24	8805	broad.mit.edu	37	7	138268672	138268672	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:138268672C>T	ENST00000343526.4	+	18	3086	c.2871C>T	c.(2869-2871)tcC>tcT	p.S957S	TRIM24_ENST00000415680.2_Silent_p.S923S			O15164	TIF1A_HUMAN	tripartite motif containing 24	957	Bromo.				cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding	p.S923S(2)|p.S957S(1)		breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						AAGATTATTCCATGTACTCAA	0.348000													47	76					0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	69064838	69064838	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:69064838C>T	ENST00000342771.4	+	1	520	c.199C>T	c.(199-201)Ccg>Tcg	p.P67S	AUTS2_ENST00000406775.2_Missense_Mutation_p.P67S|AUTS2_ENST00000403018.2_Missense_Mutation_p.P67S	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	67										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GTCCTCCGCCCCGTCCCGGCC	0.677000													13	22					0	0	1	0	0
RPLP0P2	113157	broad.mit.edu	37	11	61404558	61404558	+	RNA	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr11:61404558C>T	ENST00000496593.1	+	0	1162					NR_002775.2																						GAGAAGACCTCCTTTTTCCAG	0.547000													6	22					0	0	1	0	0
SULT1C3	442038	broad.mit.edu	37	2	108875248	108875248	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr2:108875248C>T	ENST00000329106.2	+	5	585	c.585C>T	c.(583-585)caC>caT	p.H195H	SULT1C3_ENST00000376700.1_Silent_p.H195H	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	195						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						AAGACATGCACCGGATCCTCT	0.463000													10	53					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35756556	35756556	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr13:35756556G>A	ENST00000400445.3	+	29	5256	c.4722G>A	c.(4720-4722)ctG>ctA	p.L1574L	NBEA_ENST00000540320.1_Silent_p.L1574L|NBEA_ENST00000379939.2_Silent_p.L1571L|NBEA_ENST00000310336.4_Silent_p.L1574L	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1574						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TTTCGGTTCTGATGGTTTCCA	0.378000													49	46					0	0	1	0	0
TRPM4	54795	broad.mit.edu	37	19	49703918	49703918	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:49703918C>T	ENST00000252826.5	+	19	2955	c.2829C>T	c.(2827-2829)gcC>gcT	p.A943A	TRPM4_ENST00000355712.5_Silent_p.A589A|TRPM4_ENST00000427978.2_Silent_p.A798A	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	943					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GGCTGGTAGCCTATGGCGTGG	0.622000													17	49					0	0	1	0	0
ZDHHC8	29801	broad.mit.edu	37	22	20129012	20129012	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr22:20129012C>T	ENST00000334554.7	+	9	1225	c.1084C>T	c.(1084-1086)Ccc>Tcc	p.P362S	ZDHHC8_ENST00000405930.3_Missense_Mutation_p.P362S|ZDHHC8_ENST00000320602.7_Missense_Mutation_p.P270S|ZDHHC8_ENST00000468112.1_3'UTR	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	362						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					GCCGGCTTTCCCCACGGGTCC	0.662000													4	30					0	0	1	0	0
ATP2C2	9914	broad.mit.edu	37	16	84444310	84444310	+	Splice_Site	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr16:84444310G>A	ENST00000416219.2	+	6	543	c.453_splice	c.e6-1	p.E152_splice	ATP2C2_ENST00000420010.2_Intron|ATP2C2_ENST00000262429.4_Splice_Site_p.E152_splice			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	152					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						TTCCTGCCAGGAGTACAGGTC	0.522000													17	55					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61528272	61528272	+	Silent	SNP	G	G	A	rs142748214	byFrequency	TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr20:61528272G>A	ENST00000266070.4	-	7	1990	c.1665C>T	c.(1663-1665)tcC>tcT	p.S555S	DIDO1_ENST00000395340.1_Silent_p.S555S|DIDO1_ENST00000395343.1_Silent_p.S555S|DIDO1_ENST00000395335.2_Silent_p.S555S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	555					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGCCCACCGCGGAGCCTGGAG	0.562000													10	68					0	0	1	0	0
CD44	960	broad.mit.edu	37	11	35232909	35232909	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr11:35232909C>T	ENST00000428726.2	+	14	1846	c.1723C>T	c.(1723-1725)Cca>Tca	p.P575S	CD44_ENST00000526669.2_Intron|CD44_ENST00000352818.4_Intron|CD44_ENST00000278386.6_Intron|CD44_ENST00000433892.2_Missense_Mutation_p.P326S|CD44_ENST00000433354.2_Missense_Mutation_p.P547S|CD44_ENST00000360158.4_Intron|CD44_ENST00000449691.2_Missense_Mutation_p.P532S|CD44_ENST00000434472.2_Missense_Mutation_p.P262S|CD44_ENST00000263398.6_Intron|CD44_ENST00000415148.2_Missense_Mutation_p.P532S|RP1-68D18.4_ENST00000528869.1_RNA|CD44_ENST00000437706.2_Intron	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	575	Stem.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	GACCTTCATCCCAGTGACCTC	0.443000													58	129					0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34775677	34775677	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr20:34775677C>T	ENST00000338074.2	+	8	1026	c.865C>T	c.(865-867)Cat>Tat	p.H289Y	EPB41L1_ENST00000202028.5_Missense_Mutation_p.H227Y|EPB41L1_ENST00000373941.1_Missense_Mutation_p.H289Y|EPB41L1_ENST00000441639.1_Missense_Mutation_p.H227Y|EPB41L1_ENST00000373950.2_Missense_Mutation_p.H192Y|EPB41L1_ENST00000373946.3_Missense_Mutation_p.H258Y	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	289	FERM.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					AGACCTGCACCATGCCAAGGT	0.552000													4	33					0	0	1	0	0
ZDHHC2	51201	broad.mit.edu	37	8	17055909	17055909	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr8:17055909C>T	ENST00000262096.8	+	6	1158	c.463C>T	c.(463-465)Cat>Tat	p.H155Y		NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	155						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		GAAGATGGATCATCATTGTCC	0.264000													6	18					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235860390	235860390	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:235860390C>T	ENST00000389794.3	-	46	10731	c.10557G>A	c.(10555-10557)aaG>aaA	p.K3519K	LYST_ENST00000389793.2_Silent_p.K3519K|LYST_ENST00000473037.1_5'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3519					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TACCTTGTTCCTTGCTATATG	0.438000													11	83					0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1983818	1983818	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr12:1983818C>T	ENST00000382722.5	-	18	2192	c.1830G>A	c.(1828-1830)agG>agA	p.R610R	CACNA2D4_ENST00000585708.1_Silent_p.R546R|CACNA2D4_ENST00000588077.1_Silent_p.R546R|CACNA2D4_ENST00000587995.1_Silent_p.R585R|CACNA2D4_ENST00000586184.1_Silent_p.R610R|CACNA2D4_ENST00000585732.1_Intron	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	610						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)		TACCTGTTTCCCTATTGATCA	0.473000													5	50					0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481738	140481738	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr5:140481738C>T	ENST00000231130.2	+	1	1505	c.1505C>T	c.(1504-1506)tCc>tTc	p.S502F	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		502	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCCTCTCTTCCCTGGTCTCC	0.657000													33	185					0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48371143	48371143	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr12:48371143G>A	ENST00000380518.3	-	46	3397	c.3233C>T	c.(3232-3234)cCc>cTc	p.P1078L	COL2A1_ENST00000337299.6_Missense_Mutation_p.P1009L|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1078	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TGGACCAGCGGGGCCAGGGGA	0.622000													80	9					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55135889	55135889	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr11:55135889G>A	ENST00000314706.3	+	1	530	c.530G>A	c.(529-531)tGg>tAg	p.W177*		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TTGGCGGCCTGGATTGGAGGC	0.433000													121	80					0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101593755	101593755	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr5:101593755G>A	ENST00000310954.6	-	7	1451	c.1165C>T	c.(1165-1167)Cta>Tta	p.L389L		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	389					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GAAGTTGATAGAACTAAACAC	0.313000													28	36					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210557805	210557805	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr2:210557805G>A	ENST00000360351.4	+	7	1417	c.911G>A	c.(910-912)tGg>tAg	p.W304*	MAP2_ENST00000447185.1_Nonsense_Mutation_p.W300*|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	304					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	p.W304L(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	ATCCCAAAATGGGAAGGGAAA	0.438000													15	51					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179588836	179588836	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr2:179588836C>T	ENST00000589042.1	-	73	21374	c.21150G>A	c.(21148-21150)ctG>ctA	p.L7050L	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.L6733L|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.L5806L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6733	Ig-like 52.						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)			CAGTATTTTTCAGTCTTCGTG	0.423000													3	22					0	0	1	0	0
BRCA1	672	broad.mit.edu	37	17	41209101	41209101	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:41209101G>A	ENST00000309486.4	-	18	5384	c.4357C>T	c.(4357-4359)Cca>Tca	p.P1453S	BRCA1_ENST00000346315.3_Missense_Mutation_p.P1510S|BRCA1_ENST00000351666.3_Missense_Mutation_p.P566S|BRCA1_ENST00000471181.2_Missense_Mutation_p.P1770S|BRCA1_ENST00000357654.3_Missense_Mutation_p.P1749S|BRCA1_ENST00000586385.1_Missense_Mutation_p.P59S|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000491747.2_Missense_Mutation_p.P645S|BRCA1_ENST00000354071.3_Missense_Mutation_p.P1484S|BRCA1_ENST00000591534.1_Missense_Mutation_p.P240S|BRCA1_ENST00000352993.3_Missense_Mutation_p.P607S|BRCA1_ENST00000493795.1_Missense_Mutation_p.P1702S|BRCA1_ENST00000468300.1_Missense_Mutation_p.P645S	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1749				Missing (in Ref. 3; AAC00049).	androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GCTCGCTTTGGACCTTGGTGG	0.463000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			81	235					0	0	1	0	0
GLS2	27165	broad.mit.edu	37	12	56868855	56868855	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr12:56868855G>A	ENST00000311966.4	-	10	1247	c.969C>T	c.(967-969)gcC>gcT	p.A323A	GLS2_ENST00000476991.1_5'UTR	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	323					cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AATAGCCGATGGCATAATTCC	0.498000													147	30					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12343332	12343332	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:12343332C>T	ENST00000358136.3	+	21	5303	c.5173C>T	c.(5173-5175)Ctc>Ttc	p.L1725F	VPS13D_ENST00000356315.4_Missense_Mutation_p.L1725F	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	1725					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GCCTCGGTCTCTCCCTTCCCA	0.483000													13	61					0	0	1	0	0
POLRMT	5442	broad.mit.edu	37	19	629846	629846	+	Silent	SNP	G	G	A	rs11550305	byFrequency	TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:629846G>A	ENST00000588649.2	-	3	600	c.516C>T	c.(514-516)gcC>gcT	p.A172A		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	172					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding	p.A172A(1)		cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGGCACCCGGCCATCTGCT	0.697000													3	21					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13868074	13868074	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr5:13868074C>T	ENST00000265104.4	-	25	3966	c.3862G>A	c.(3862-3864)Gga>Aga	p.G1288R	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1288	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			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)					ATCAGAAGTCCATATCTGTTA	0.388000									Kartagener syndrome				5	63					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51220089	51220089	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:51220089G>A	ENST00000293441.1	-	1	106	c.88C>T	c.(88-90)Cca>Tca	p.P30S	SHANK1_ENST00000391814.1_Missense_Mutation_p.P30S|SHANK1_ENST00000359082.3_Missense_Mutation_p.P30S	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	30					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GGCCCGTCTGGGGAGCTGTCG	0.711000													12	12					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51173657	51173657	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr16:51173657C>T	ENST00000440970.1	-	2	2616	c.2185G>A	c.(2185-2187)Gat>Aat	p.D729N	SALL1_ENST00000251020.4_Missense_Mutation_p.D826N|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	826					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ATGTTTTCATCAGAGAAGTTG	0.507000													38	223					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453135	140453135	+	Silent	SNP	C	C	T	rs121913377		TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:140453135C>T	ENST00000288602.6	-	15	1860	c.1800G>A	c.(1798-1800)gtG>gtA	p.V600V		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(36)|p.V600D(16)|p.V600_K601>E(12)|p.T599_R603>I(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.V600V(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)	ATCGAGATTTCACTGTAGCTA	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_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				95	56					0	0	1	0	0
LIMK2	3985	broad.mit.edu	37	22	31672907	31672907	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr22:31672907C>T	ENST00000340552.4	+	15	2072	c.1842C>T	c.(1840-1842)atC>atT	p.I614I	LIMK2_ENST00000331728.4_Intron|LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000467301.1_Intron|LIMK2_ENST00000406516.1_Silent_p.I557I|LIMK2_ENST00000333611.4_Intron	NM_001031801.1	NP_001026971.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	0						mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						AGGAGTGGATCCTGGAGCAGC	0.577000													5	35					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65486411	65486411	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chrX:65486411C>T	ENST00000519389.1	+	21	3715	c.3536C>T	c.(3535-3537)gCt>gTt	p.A1179V	HEPH_ENST00000336279.5_Missense_Mutation_p.A858V|HEPH_ENST00000374727.3_Missense_Mutation_p.A1128V|HEPH_ENST00000419594.1_Missense_Mutation_p.A936V|HEPH_ENST00000441993.2_Missense_Mutation_p.A1127V|HEPH_ENST00000343002.2_Missense_Mutation_p.A1125V			Q9BQS7	HEPH_HUMAN	hephaestin	1125					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GTTGTTCTGGCTCTTGGTGGA	0.483000													41	6					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119124927	119124927	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr9:119124927C>A	ENST00000328252.3	+	18	4773	c.4404C>A	c.(4402-4404)ttC>ttA	p.F1468L	PAPPA_ENST00000534838.1_Missense_Mutation_p.F506L	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1468	Sushi 4.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ACGGCTCCTTCCATGTCTGCC	0.527000													12	58					1.61879e-10	1.64987e-10	1	1	0
PLEKHG2	64857	broad.mit.edu	37	19	39913402	39913402	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:39913402G>A	ENST00000425673.1	+	16	1946	c.1621G>A	c.(1621-1623)Gga>Aga	p.G541R	PLEKHG2_ENST00000458508.2_Missense_Mutation_p.G511R|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.G570R|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000378550.1_Intron			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	570					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAAGTTCCCCGGAGACTCCCA	0.587000													14	69					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168107877	168107877	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr2:168107877C>T	ENST00000409195.1	+	9	10064	c.9975C>T	c.(9973-9975)ttC>ttT	p.F3325F	XIRP2_ENST00000409273.1_Silent_p.F3103F|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Silent_p.F3325F|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3150					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTGAAAATTTCGTGAATGACC	0.448000													30	80					0	0	1	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104206624	104206624	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr14:104206624G>A	ENST00000202556.9	-	12	2411	c.2129C>T	c.(2128-2130)tCc>tTc	p.S710F	PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_Missense_Mutation_p.S129F	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	710	Pro-rich.				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				CTCTGTGATGGAGCTGCGCTT	0.662000													19	72					0	0	1	0	0
TMEM43	79188	broad.mit.edu	37	3	14177346	14177346	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr3:14177346C>T	ENST00000306077.4	+	10	1074	c.820C>T	c.(820-822)Cca>Tca	p.P274S		NM_024334.2	NP_077310.1	Q9BTV4	TMM43_HUMAN	transmembrane protein 43	274						endoplasmic reticulum|Golgi apparatus|integral to membrane|nuclear inner membrane				breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						CCAGCTAGTCCCATTCTCCAC	0.607000													23	96					0	0	1	0	0
QRICH1	54870	broad.mit.edu	37	3	49095151	49095151	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr3:49095151G>A	ENST00000395443.2	-	3	954	c.482C>T	c.(481-483)cCc>cTc	p.P161L	QRICH1_ENST00000424300.1_Missense_Mutation_p.P161L|QRICH1_ENST00000479449.1_Intron|QRICH1_ENST00000357496.2_Missense_Mutation_p.P161L	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	161	Gln-rich.									breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CAGCTGCGAGGGACTGGGACT	0.612000													42	109					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33653892	33653892	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr6:33653892C>T	ENST00000374316.5	+	43	6790	c.5730C>T	c.(5728-5730)ttC>ttT	p.F1910F	ITPR3_ENST00000605930.1_Silent_p.F1910F			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1910					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CGCTGCAGTTCCTGGACATCA	0.587000													13	58					0	0	1	0	0
ANXA9	8416	broad.mit.edu	37	1	150960629	150960629	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:150960629C>T	ENST00000368947.4	+	11	1236	c.760C>T	c.(760-762)Cat>Tat	p.H254Y		NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	254					cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GAACCGTTTCCATGGAGATGC	0.542000													18	115					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238243356	238243356	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr2:238243356G>A	ENST00000295550.4	-	41	9594	c.9142C>T	c.(9142-9144)Ctg>Ttg	p.L3048L	COL6A3_ENST00000409809.1_Silent_p.L2842L|COL6A3_ENST00000346358.4_Silent_p.L2848L|COL6A3_ENST00000347401.3_Silent_p.L2847L|COL6A3_ENST00000353578.4_Silent_p.L2842L|COL6A3_ENST00000472056.1_Silent_p.L2441L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	3048	Fibronectin type-III.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCAGCGAGCAGGCCTCCAATG	0.547000													15	38					0	0	1	0	0
PRR19	284338	broad.mit.edu	37	19	42813817	42813817	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:42813817G>A	ENST00000499536.2	+	1	892	c.81G>A	c.(79-81)cgG>cgA	p.R27R	PRR19_ENST00000598490.1_Silent_p.R27R|PRR19_ENST00000341747.3_Silent_p.R27R			A6NJB7	PRR19_HUMAN	proline rich 19	27										NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				AGACTAGGCGGGAACGTAACA	0.597000													47	68					0	0	1	0	0
FAM53C	51307	broad.mit.edu	37	5	137680685	137680685	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr5:137680685C>T	ENST00000239906.5	+	4	736	c.308C>T	c.(307-309)cCa>cTa	p.P103L	FAM53C_ENST00000513056.1_Intron|FAM53C_ENST00000507506.1_3'UTR|FAM53C_ENST00000434981.2_Missense_Mutation_p.P103L	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	103										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCCCCAGATCCAGAGAAGCTT	0.657000													18	115					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151854957	151854957	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:151854957G>A	ENST00000355193.2	-	45	11948	c.11730C>T	c.(11728-11730)caC>caT	p.H3910H	KMT2C_ENST00000262189.6_Intron					lysine (K)-specific methyltransferase 2C																		AAGGAAGAAAGTGCGCAAAGT	0.418000													3	20					0	0	1	0	0
CYSLTR1	10800	broad.mit.edu	37	X	77528599	77528599	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chrX:77528599G>A	ENST00000373304.3	-	3	937	c.645C>T	c.(643-645)acC>acT	p.T215T		NM_006639.2	NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	215					elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	TTTTTAGTAAGGTCAAAATGA	0.323000													25	1					0	0	1	0	0
CPNE4	131034	broad.mit.edu	37	3	131624122	131624122	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr3:131624122C>T	ENST00000512055.1	-	6	2292	c.166G>A	c.(166-168)Ggg>Agg	p.G56R	CPNE4_ENST00000429747.1_Missense_Mutation_p.G56R|CPNE4_ENST00000512332.1_Missense_Mutation_p.G74R|CPNE4_ENST00000502818.1_Missense_Mutation_p.G74R|CPNE4_ENST00000511604.1_Missense_Mutation_p.G56R			Q96A23	CPNE4_HUMAN	copine IV	56	C2 1.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						AACCACTGCCCATGAGACTGC	0.463000													19	93					0	0	1	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455692	187455692	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr4:187455692G>A	ENST00000307161.5	-	2	405	c.204C>T	c.(202-204)agC>agT	p.S68S	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	68					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	CCACCGCTAAGCTCACCACAA	0.463000													30	46					0	0	1	0	0
STOML3	161003	broad.mit.edu	37	13	39544347	39544347	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr13:39544347C>T	ENST00000379631.4	-	5	835	c.491G>A	c.(490-492)cGa>cAa	p.R164Q	STOML3_ENST00000423210.1_Missense_Mutation_p.R155Q	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	164						integral to membrane|plasma membrane				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		GATCTCTTCTCGTCCAGCTAA	0.408000													9	131					0	0	1	0	0
WDR65	149465	broad.mit.edu	37	1	43647461	43647461	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:43647461G>A	ENST00000372492.4	+	3	738	c.414G>A	c.(412-414)tgG>tgA	p.W138*	WDR65_ENST00000528956.1_Nonsense_Mutation_p.W138*	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN	WD repeat domain 65	138										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACTGGCTGTGGGAAAAACAGA	0.403000													60	8					0	0	1	0	0
AGAP6	414189	broad.mit.edu	37	10	51748684	51748684	+	Missense_Mutation	SNP	G	G	A	rs61848260		TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr10:51748684G>A	ENST00000374056.4	+	1	607	c.209G>A	c.(208-210)cGg>cAg	p.R70Q	AGAP6_ENST00000412531.3_Missense_Mutation_p.R70Q			C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	70					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						GTTCGTGACCGGGAGATGCCT	0.592000													7	122					0	0	1	0	0
BANK1	55024	broad.mit.edu	37	4	102981430	102981430	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr4:102981430G>A	ENST00000504592.1	+	16	2405	c.1987G>A	c.(1987-1989)Gaa>Aaa	p.E663K	BANK1_ENST00000444316.2_Missense_Mutation_p.E648K|BANK1_ENST00000508653.1_Missense_Mutation_p.E545K|BANK1_ENST00000322953.4_Missense_Mutation_p.E678K|BANK1_ENST00000428908.1_Missense_Mutation_p.E545K			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	678					B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		TGATGGTCAGGAAGAACTCAT	0.453000													52	62					0	0	1	0	0
UBL7	84993	broad.mit.edu	37	15	74751147	74751147	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr15:74751147G>A	ENST00000567435.1	-	2	525	c.62C>T	c.(61-63)tCt>tTt	p.S21F	UBL7_ENST00000361351.4_Missense_Mutation_p.S21F|UBL7_ENST00000565335.1_Missense_Mutation_p.S21F|UBL7_ENST00000395081.2_Missense_Mutation_p.S21F|UBL7_ENST00000564488.1_Missense_Mutation_p.S21F			Q96S82	UBL7_HUMAN	ubiquitin-like 7 (bone marrow stromal cell-derived)	21	Ubiquitin-like.						protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						CCGAAGAATAGACTTTGGAGT	0.498000													30	167					0	0	1	0	0
GPATCH1	55094	broad.mit.edu	37	19	33603427	33603427	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:33603427G>A	ENST00000170564.2	+	13	2114	c.1800G>A	c.(1798-1800)atG>atA	p.M600I		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	600						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					CTGTGAAGATGAAGATGTTTG	0.483000													22	124					0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42629073	42629073	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr4:42629073C>T	ENST00000381668.5	-	2	334	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K	ATP8A1_ENST00000264449.10_Missense_Mutation_p.E35K|ATP8A1_ENST00000510289.1_Missense_Mutation_p.E35K	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	35					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GTCCTTACTTCCTCCTGGTCA	0.413000													14	31					0	0	1	0	0
CSF2RA	1438	broad.mit.edu	37	X	1407772	1407772	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chrX:1407772G>A	ENST00000381524.3	+	6	650	c.464G>A	c.(463-465)cGa>cAa	p.R155Q	CSF2RA_ENST00000501036.2_Missense_Mutation_p.R22Q|CSF2RA_ENST00000381529.3_Missense_Mutation_p.R155Q|CSF2RA_ENST00000361536.3_Missense_Mutation_p.R155Q|CSF2RA_ENST00000355805.2_Missense_Mutation_p.R155Q|CSF2RA_ENST00000381509.3_Missense_Mutation_p.R155Q|CSF2RA_ENST00000417535.2_Missense_Mutation_p.R155Q|CSF2RA_ENST00000355432.3_Missense_Mutation_p.R155Q|CSF2RA_ENST00000381500.1_Missense_Mutation_p.R155Q|CSF2RA_ENST00000432318.2_Missense_Mutation_p.R155Q			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	155						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TTGTACATACGAAACTCAAAG	0.413000													43	116					0	0	1	0	0
OR56A3	390083	broad.mit.edu	37	11	5968871	5968871	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr11:5968871C>T	ENST00000329564.6	+	1	302	c.295C>T	c.(295-297)Cct>Tct	p.P99S		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATCAGCTTCCCTGCCTGCTT	0.532000													98	104					0	0	1	0	0
BCOR	54880	broad.mit.edu	37	X	39932212	39932212	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chrX:39932212G>A	ENST00000342274.4	-	4	2749	c.2387C>T	c.(2386-2388)aCt>aTt	p.T796I	BCOR_ENST00000397354.3_Missense_Mutation_p.T796I|BCOR_ENST00000378444.4_Missense_Mutation_p.T796I|BCOR_ENST00000378455.4_Missense_Mutation_p.T796I	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	796					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TTTGACAACAGTCTTCCCTTG	0.483000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						49	135					0	0	1	0	0
CAMTA2	23125	broad.mit.edu	37	17	4875598	4875598	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:4875598G>A	ENST00000361571.5	-	15	3145	c.2734C>T	c.(2734-2736)Ctc>Ttc	p.L912F	CAMTA2_ENST00000348066.3_Missense_Mutation_p.L913F|CAMTA2_ENST00000381311.5_Missense_Mutation_p.L915F|CAMTA2_ENST00000358183.4_Missense_Mutation_p.L913F|CAMTA2_ENST00000572543.1_Missense_Mutation_p.L918F|CAMTA2_ENST00000414043.3_Missense_Mutation_p.L936F	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	913					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding	p.L913F(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GCTGGTGGGAGGGCAGGAAGG	0.602000													8	98					0	0	1	0	0
RPS6KA5	9252	broad.mit.edu	37	14	91365690	91365690	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr14:91365690C>T	ENST00000261991.3	-	12	1629	c.1456G>A	c.(1456-1458)Gaa>Aaa	p.E486K	RPS6KA5_ENST00000418736.2_Missense_Mutation_p.E486K|RPS6KA5_ENST00000536315.2_Missense_Mutation_p.E407K	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	486	Protein kinase 2.				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		TGAAAAACTTCATGCAACTTC	0.383000													22	42					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24832126	24832126	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr10:24832126G>A	ENST00000376451.2	+	14	3236	c.2976G>A	c.(2974-2976)atG>atA	p.M992I	KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376454.3_Missense_Mutation_p.M1309I|KIAA1217_ENST00000307544.6_Intron			Q5T5P2	SKT_HUMAN	KIAA1217	1309					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CAAAGGAGATGGAAAAGCAAA	0.398000													48	32					0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51412047	51412047	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr11:51412047C>T	ENST00000319760.6	-	1	401	c.349G>A	c.(349-351)Gcc>Acc	p.A117T		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				CGATCACAGGCCATCACCACC	0.473000													39	20					0	0	1	0	0
CPNE7	27132	broad.mit.edu	37	16	89657539	89657539	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr16:89657539C>T	ENST00000268720.5	+	15	1528	c.1398C>T	c.(1396-1398)atC>atT	p.I466I	CPNE7_ENST00000319518.8_Silent_p.I391I	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	466	VWFA.				lipid metabolic process		transporter activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		CCACAGGCATCCAGGGCGTGG	0.687000													16	7					0	0	1	0	0
CCDC19	25790	broad.mit.edu	37	1	159847208	159847208	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:159847208C>T	ENST00000426543.2	-	9	1289	c.834G>A	c.(832-834)agG>agA	p.R278R	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000368099.4_Silent_p.R363R			Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	363						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TCTCTTTCTCCCTCCGGATTC	0.552000													42	287					0	0	1	0	0
NCOR1P1	149934	broad.mit.edu	37	20	26084283	26084283	+	RNA	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr20:26084283C>T	ENST00000478176.1	-	0	174					NR_003678.1																						GATGGAGCTTCATGTTTGCCT	0.388000													5	80					0	0	1	0	0
WDR62	284403	broad.mit.edu	37	19	36583618	36583618	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:36583618G>A	ENST00000401500.2	+	19	2273	c.2238G>A	c.(2236-2238)ccG>ccA	p.P746P	WDR62_ENST00000270301.7_Silent_p.P746P	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	746					cerebral cortex development	nucleus		p.P746P(1)		cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ACCTGGGCCCGGAGATCACCA	0.597000													29	151					0	0	1	0	0
ZDHHC14	79683	broad.mit.edu	37	6	158066850	158066850	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr6:158066850C>T	ENST00000359775.5	+	6	1723	c.834C>T	c.(832-834)tcC>tcT	p.S278S	ZDHHC14_ENST00000341375.8_3'UTR|ZDHHC14_ENST00000414563.2_Silent_p.S278S			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	278						integral to membrane	acyltransferase activity|zinc ion binding	p.S278S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		TGATCAGCTCCAACCAGACAA	0.522000													3	22					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50944211	50944211	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr10:50944211G>A	ENST00000374103.4	-	22	2852	c.2767C>T	c.(2767-2769)Ccc>Tcc	p.P923S	OGDHL_ENST00000432695.1_Missense_Mutation_p.P714S|OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000419399.1_Missense_Mutation_p.P866S	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	923					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						AGGTCGAAGGGGAATGGAGAG	0.602000													6	26					0	0	1	0	0
PCYT1A	5130	broad.mit.edu	37	3	195965607	195965607	+	Silent	SNP	G	G	A	rs142070722		TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr3:195965607G>A	ENST00000292823.2	-	10	1228	c.1056C>T	c.(1054-1056)tcC>tcT	p.S352S	PCYT1A_ENST00000419333.1_Silent_p.S352S|PCYT1A_ENST00000431016.1_Silent_p.S352S	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	352						cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)	CCTTGTGCCTGGAGAGATTTG	0.572000													17	156					0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24518562	24518562	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr2:24518562C>T	ENST00000355123.4	-	14	2049	c.1606G>A	c.(1606-1608)Gaa>Aaa	p.E536K	ITSN2_ENST00000406921.3_Missense_Mutation_p.E536K|ITSN2_ENST00000361999.3_Missense_Mutation_p.E536K	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	536					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTTGATTTCCATAATTTCC	0.428000													50	29					0	0	1	0	0
DEFB115	245929	broad.mit.edu	37	20	29847392	29847392	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr20:29847392C>T	ENST00000400552.1	+	2	224	c.224C>T	c.(223-225)tCa>tTa	p.S75L		NM_001037730.1	NP_001032819.1	Q30KQ5	DB115_HUMAN	defensin, beta 115	75					defense response to bacterium	extracellular region				kidney(1)|lung(3)|ovary(1)|skin(1)	6			Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347)			GATAAACTATCACACATTCAC	0.353000													25	30					0	0	1	0	0
KLC3	147700	broad.mit.edu	37	19	45853671	45853671	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:45853671G>A	ENST00000470402.1	+	8	1358	c.1258G>A	c.(1258-1260)Gac>Aac	p.D420N	ERCC2_ENST00000391945.4_3'UTR|KLC3_ENST00000391946.2_Missense_Mutation_p.D406N|KLC3_ENST00000585434.1_Missense_Mutation_p.D405N			Q6P597	KLC3_HUMAN	kinesin light chain 3	406						cytoplasm|kinesin complex|microtubule	microtubule motor activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CCACAAGGAGGACCTACCCGC	0.562000													16	61					0	0	1	0	0
CDK1	983	broad.mit.edu	37	10	62551976	62551976	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr10:62551976C>T	ENST00000448257.2	+	7	925	c.724C>T	c.(724-726)Ccc>Tcc	p.P242S	CDK1_ENST00000316629.4_Missense_Mutation_p.P185S|CDK1_ENST00000395284.3_Missense_Mutation_p.P242S|CDK1_ENST00000373809.2_Missense_Mutation_p.P185S			P06493	CDK1_HUMAN	cyclin-dependent kinase 1	242	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|axon guidance|cell division|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|mitosis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein localization to kinetochore|Ras protein signal transduction|regulation of transcription involved in G1/S phase of mitotic cell cycle|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|midbody|nucleoplasm|spindle microtubule	ATP binding|cyclin-dependent protein kinase activity|RNA polymerase II carboxy-terminal domain kinase activity			ovary(1)	1						GAATACATTTCCCAAATGGAA	0.393000													10	83					0	0	1	0	0
UROC1	131669	broad.mit.edu	37	3	126220688	126220688	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr3:126220688C>T	ENST00000383579.3	-	10	1039	c.1006G>A	c.(1006-1008)Gag>Aag	p.E336K	UROC1_ENST00000290868.2_Intron	NM_001165974.1	NP_001159446.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	0					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CACCTCCCCTCCCCCAGGGGT	0.612000													14	64					0	0	1	0	0
CORO7	79585	broad.mit.edu	37	16	4409354	4409354	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr16:4409354G>A	ENST00000251166.4	-	23	2428	c.2283C>T	c.(2281-2283)ctC>ctT	p.L761L	CORO7-PAM16_ENST00000572467.1_Silent_p.L761L|CORO7-PAM16_ENST00000572274.1_5'UTR|CORO7_ENST00000537233.2_Silent_p.L743L|CORO7_ENST00000574025.1_Silent_p.L676L|CORO7_ENST00000539968.1_Silent_p.L541L	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						GGGACTCGGGGAGCAGCTCGT	0.657000											OREG0023580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	24					0	0	1	0	0
SPDYE4	388333	broad.mit.edu	37	17	8656710	8656710	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:8656710G>A	ENST00000328794.6	-	5	759	c.583C>T	c.(583-585)Cat>Tat	p.H195Y		NM_001128076.1	NP_001121548.1	A6NLX3	SPDE4_HUMAN	speedy/RINGO cell cycle regulator family member E4	195										breast(1)|endometrium(2)|kidney(1)	4						CGAAGCTTATGGAACAAGGGT	0.577000													8	15					0	0	1	0	0
TEKT1	83659	broad.mit.edu	37	17	6704190	6704190	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:6704190G>A	ENST00000338694.2	-	7	1054	c.925C>T	c.(925-927)Cca>Tca	p.P309S	TEKT1_ENST00000535086.1_Missense_Mutation_p.P163S	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	309					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				ACCTTGGCTGGCCCTTCTTGG	0.498000											OREG0024124	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	224					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9054252	9054252	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:9054252G>A	ENST00000397910.4	-	4	31573	c.31370C>T	c.(31369-31371)tCg>tTg	p.S10457L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10459	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						ACTGGCAGGCGAAGTGGATGT	0.448000													7	10					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70357680	70357680	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chrX:70357680C>T	ENST00000333646.6	+	41	6139	c.5940C>T	c.(5938-5940)caC>caT	p.H1980H	MED12_ENST00000478889.1_3'UTR|MED12_ENST00000374102.1_Silent_p.H1976H|MED12_ENST00000374080.3_Silent_p.H1977H	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1977	Gln-rich.|Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					AGAGCACCCACCCTTCTACCA	0.572000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						58	6					0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834273	101834273	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr5:101834273G>A	ENST00000506729.1	-	1	447	c.276C>T	c.(274-276)ggC>ggT	p.G92G	SLCO6A1_ENST00000389019.3_Silent_p.G92G|SLCO6A1_ENST00000379810.1_Silent_p.G92G|SLCO6A1_ENST00000513675.1_Silent_p.G92G|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000379807.3_Silent_p.G92G			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	92	Cys-rich.					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)		TGACTAAGCAGCCCAAACCAC	0.498000													19	147					0	0	1	0	0
DLL4	54567	broad.mit.edu	37	15	41227212	41227212	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr15:41227212G>A	ENST00000249749.5	+	8	1413	c.1137G>A	c.(1135-1137)gaG>gaA	p.E379E		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	379	EGF-like 5.				blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CCTGCCGGGAGCGCAACCAGG	0.612000													22	90					0	0	1	0	0
PNISR	25957	broad.mit.edu	37	6	99850430	99850430	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr6:99850430T>C	ENST00000369239.5	-	11	1517	c.1313A>G	c.(1312-1314)gAt>gGt	p.D438G	PNISR_ENST00000438806.1_Missense_Mutation_p.D438G	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	438						nuclear speck				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						CATCTGTTTATCATGTAATAG	0.323000													4	64					0	0	1	0	0
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													5	63					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10450801	10450801	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:10450801C>T	ENST00000245503.5	-	4	723	c.339G>A	c.(337-339)tgG>tgA	p.W113*	CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Nonsense_Mutation_p.W113*|MYH2_ENST00000397183.2_Nonsense_Mutation_p.W113*	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	113	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CGTAGATCATCCAGGCTGCAT	0.478000													106	160					0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19468122	19468122	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr16:19468122C>T	ENST00000219821.5	+	1	351	c.94C>T	c.(94-96)Caa>Taa	p.Q32*	TMC5_ENST00000564959.1_Intron|TMC5_ENST00000561503.1_Intron|TMC5_ENST00000541464.1_Intron|TMC5_ENST00000396229.2_Intron|TMC5_ENST00000381414.4_Intron|TMC5_ENST00000542583.2_Intron	NM_024780.4	NP_079056.2	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	0						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCAGATTTTTCAAGAAAAGGT	0.428000													24	54					0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63721281	63721281	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:63721281G>T	ENST00000421025.1	+	4	505	c.236G>T	c.(235-237)aGa>aTa	p.R79I	ZNF679_ENST00000255746.4_Missense_Mutation_p.R79I	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	79	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						AATATAAAGAGAAATGAGATG	0.393000													7	89					0.00307968	0.00309026	1	1	0
PLCE1	51196	broad.mit.edu	37	10	96066280	96066280	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr10:96066280C>T	ENST00000260766.3	+	26	6353	c.5719C>T	c.(5719-5721)Cgc>Tgc	p.R1907C	PLCE1_ENST00000371385.3_Missense_Mutation_p.R1599C|PLCE1_ENST00000371375.1_Missense_Mutation_p.R1599C|PLCE1_ENST00000371380.2_Missense_Mutation_p.R1907C	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1907	C2.				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)				CTGCCATTTCCGCACAAAGCC	0.507000													54	38					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13864629	13864629	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr5:13864629C>T	ENST00000265104.4	-	28	4577	c.4473G>A	c.(4471-4473)atG>atA	p.M1491I	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1491	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			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)					GCCGCTCCATCATGGCTTTAC	0.502000									Kartagener syndrome				38	36					0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20012264	20012264	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr13:20012264G>A	ENST00000400230.2	-	14	1047	c.1003C>T	c.(1003-1005)Ctt>Ttt	p.L335F	TPTE2_ENST00000457266.2_Missense_Mutation_p.L224F|TPTE2_ENST00000400103.2_Missense_Mutation_p.L224F|TPTE2_ENST00000390680.2_Missense_Mutation_p.L258F|TPTE2_ENST00000382977.4_Missense_Mutation_p.L335F|TPTE2_ENST00000382975.4_Missense_Mutation_p.L295F|TPTE2_ENST00000382978.1_Missense_Mutation_p.L295F|TPTE2_ENST00000255310.6_Missense_Mutation_p.L258F			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	335	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GAGGCAATAAGGAGGGCACAA	0.368000													10	109					0	0	1	0	0
PLAGL2	5326	broad.mit.edu	37	20	30784501	30784501	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr20:30784501G>A	ENST00000246229.4	-	3	1509	c.1245C>T	c.(1243-1245)tcC>tcT	p.S415S		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	415						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCAGTAGGTGGGAGAAGTCCA	0.647000													4	36					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10356109	10356109	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:10356109G>A	ENST00000255381.2	-	25	3362	c.3252C>T	c.(3250-3252)ctC>ctT	p.L1084L	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1084					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTTACTTTTTGAGTTTCTCAT	0.353000													77	91					0	0	1	0	0
WDSUB1	151525	broad.mit.edu	37	2	160139344	160139344	+	Silent	SNP	G	G	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr2:160139344G>T	ENST00000409990.3	-	2	493	c.237C>A	c.(235-237)gtC>gtA	p.V79V	WDSUB1_ENST00000409124.1_Silent_p.V79V|WDSUB1_ENST00000392796.3_Silent_p.V79V|WDSUB1_ENST00000358147.4_Silent_p.V79V|WDSUB1_ENST00000359774.4_Silent_p.V79V	NM_001128213.1	NP_001121685.1	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	79						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						TATTCCATAGGACAGTGGTAC	0.488000													22	59					1.9806e-07	2.0151e-07	1	1	0
GORASP2	26003	broad.mit.edu	37	2	171804873	171804873	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr2:171804873C>T	ENST00000234160.4	+	2	892	c.77C>T	c.(76-78)tCc>tTc	p.S26F	GORASP2_ENST00000452526.2_Missense_Mutation_p.S38F|GORASP2_ENST00000493692.1_3'UTR	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa	26	PDZ.					Golgi membrane				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						CAAGAAAATTCCCCAGGACAC	0.333000													37	15					0	0	1	0	0
FAM91A1	157769	broad.mit.edu	37	8	124818423	124818423	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr8:124818423C>T	ENST00000334705.7	+	20	2232	c.1986C>T	c.(1984-1986)tcC>tcT	p.S662S	FAM91A1_ENST00000521166.1_Silent_p.S662S	NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	662										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			TGAATGCTTCCAGCCAACTTG	0.403000													59	73					0	0	1	0	0
PCDHA5	56143	broad.mit.edu	37	5	140202746	140202746	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr5:140202746C>T	ENST00000529859.1	+	1	1386	c.1386C>T	c.(1384-1386)ttC>ttT	p.F462F	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.F462F|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Silent_p.F462F|PCDHA4_ENST00000530339.1_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATACCGTGTTCGTGAAGGAGA	0.662000													22	136					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92762826	92762826	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:92762826G>A	ENST00000318238.4	-	5	3675	c.2459C>T	c.(2458-2460)tCc>tTc	p.S820F	SAMD9L_ENST00000437805.1_Missense_Mutation_p.S820F|SAMD9L_ENST00000411955.1_Missense_Mutation_p.S820F	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	820										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TGCTAAAACGGAATGGATGGC	0.378000													46	101					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50847285	50847285	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr2:50847285C>T	ENST00000404971.1	-	9	2654	c.1315G>A	c.(1315-1317)Ggc>Agc	p.G439S	NRXN1_ENST00000406859.3_Missense_Mutation_p.G399S|NRXN1_ENST00000406316.2_Missense_Mutation_p.G399S|NRXN1_ENST00000405472.3_Missense_Mutation_p.G391S|NRXN1_ENST00000402717.3_Missense_Mutation_p.G391S|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.G399S	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	399	Laminin G-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TGCGTGTAGCCCGTTGTGGTA	0.478000													19	9					0	0	1	0	0
LGI1	9211	broad.mit.edu	37	10	95556731	95556731	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr10:95556731C>T	ENST00000371418.4	+	8	1105	c.845C>T	c.(844-846)tCc>tTc	p.S282F	LGI1_ENST00000542308.1_Missense_Mutation_p.S234F|LGI1_ENST00000371413.3_Intron	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	282					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				CCAGGCACATCCACTGTAGTA	0.468000													30	28					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174696	150174696	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:150174696C>T	ENST00000307271.3	+	5	2400	c.1826C>T	c.(1825-1827)gCc>gTc	p.A609V		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	609						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		ACAGGCCAGGCCCAGGAAACC	0.458000													31	249					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142651365	142651365	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:142651365G>A	ENST00000355265.2	-	8	1304	c.830C>T	c.(829-831)tCc>tTc	p.S277F	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	277					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TGAAGTGATGGAGATTGACAA	0.552000													9	108					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96066279	96066279	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr10:96066279C>T	ENST00000260766.3	+	26	6352	c.5718C>T	c.(5716-5718)ttC>ttT	p.F1906F	PLCE1_ENST00000371385.3_Silent_p.F1598F|PLCE1_ENST00000371375.1_Silent_p.F1598F|PLCE1_ENST00000371380.2_Silent_p.F1906F	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1906	C2.				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)				GCTGCCATTTCCGCACAAAGC	0.512000													56	38					0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109793693	109793693	+	Silent	SNP	C	C	T	rs147270616	by1000genomes	TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr13:109793693C>T	ENST00000356711.2	+	32	5193	c.5067C>T	c.(5065-5067)tcC>tcT	p.S1689S	MYO16_ENST00000357550.2_Silent_p.S1689S	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1689					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	p.S1689S(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TTCGGAAATCCGCGGCGGGAA	0.627000													5	20					0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121724190	121724190	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr3:121724190C>T	ENST00000273691.3	-	3	385	c.280G>A	c.(280-282)Gac>Aac	p.D94N	ILDR1_ENST00000393631.1_Missense_Mutation_p.D94N|ILDR1_ENST00000344209.5_Missense_Mutation_p.D94N|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Missense_Mutation_p.D106N	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	94	Ig-like V-type.					cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		CGCTGGTTGTCGTTGCAGTCA	0.597000													7	39					0	0	1	0	0
SETMAR	6419	broad.mit.edu	37	3	4354724	4354724	+	Missense_Mutation	SNP	C	C	T	rs145940333		TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr3:4354724C>T	ENST00000358065.4	+	2	366	c.299C>T	c.(298-300)tCa>tTa	p.S100L	SUMF1_ENST00000534863.1_Intron|SETMAR_ENST00000425863.1_Missense_Mutation_p.S100L|SETMAR_ENST00000462115.1_3'UTR|SETMAR_ENST00000430981.1_Missense_Mutation_p.S100L	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	87	Histone-lysine N-methyltransferase.|Pre-SET.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		GATGATAACTCATGCCTTAGA	0.488000								Chromatin Structure					14	73					0	0	1	0	0
CNTRL	11064	broad.mit.edu	37	9	123924522	123924522	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr9:123924522G>A	ENST00000373855.1	+	34	5656	c.5396G>A	c.(5395-5397)tGg>tAg	p.W1799*	CNTRL_ENST00000373850.1_Nonsense_Mutation_p.W1247*|CNTRL_ENST00000238341.5_Nonsense_Mutation_p.W1799*|CNTRL_ENST00000373845.2_3'UTR			Q7Z7A1	CNTRL_HUMAN	centriolin	1799					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						TGTGACATTTGGGAAAAAAAG	0.388000													14	43					0	0	1	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20369236	20369236	+	RNA	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:20369236G>A	ENST00000593655.1	-	0	199																											AGTGAATTACGATCAATGTTA	0.413000													54	90					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138452050	138452050	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr4:138452050T>C	ENST00000344876.4	-	1	1579	c.1193A>G	c.(1192-1194)aAg>aGg	p.K398R	PCDH18_ENST00000412923.2_Missense_Mutation_p.K398R|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.K178R|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	398	Cadherin 4.				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)					TCCATGAAGCTTACAAACTAT	0.343000													14	104					0	0	1	0	0
ZCCHC16	340595	broad.mit.edu	37	X	111698653	111698653	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chrX:111698653C>T	ENST00000340433.2	+	1	927	c.697C>T	c.(697-699)Cca>Tca	p.P233S		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	233							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						GACCCAGCTCCCATTGTTGGC	0.517000													111	73					0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1043227	1043227	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:1043227C>T	ENST00000263094.6	+	8	998	c.767C>T	c.(766-768)tCc>tTc	p.S256F	ABCA7_ENST00000433129.1_Missense_Mutation_p.S256F|ABCA7_ENST00000435683.2_Missense_Mutation_p.S118F	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	256					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGCCAGAATCCGCCCTGCCA	0.642000													61	65					0	0	1	0	0
CDCA4	55038	broad.mit.edu	37	14	105478262	105478262	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr14:105478262A>G	ENST00000336219.3	-	2	160	c.5T>C	c.(4-6)tTt>tCt	p.F2S	CDCA4_ENST00000392590.3_Missense_Mutation_p.F2S	NM_017955.3	NP_060425.2	Q9BXL8	CDCA4_HUMAN	cell division cycle associated 4	2						nucleus				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		TCCTCGTGCAAACATTGTGTC	0.572000													23	34					0	0	1	0	0
TMEM89	440955	broad.mit.edu	37	3	48658389	48658389	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr3:48658389G>A	ENST00000330862.3	-	2	464	c.366C>T	c.(364-366)ctC>ctT	p.L122L		NM_001008269.1	NP_001008270.1	A2RUT3	TMM89_HUMAN	transmembrane protein 89	122						integral to membrane				breast(1)|lung(1)|stomach(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGACCCCACGGAGCAGGGTGT	0.612000													13	72					0	0	1	0	0
ZNF836	162962	broad.mit.edu	37	19	52663781	52663781	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:52663781G>A	ENST00000322146.8	-	4	600	c.79C>T	c.(79-81)Cct>Tct	p.P27S	ZNF836_ENST00000597065.1_Missense_Mutation_p.P27S|CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.P27S	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	27	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TTCTGCACAGGGTCCAGGGAT	0.448000													30	180					0	0	1	0	0
GIMAP5	55340	broad.mit.edu	37	7	150439945	150439945	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:150439945G>A	ENST00000358647.3	+	3	1085	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCCTGCCAGGAAGACTACAG	0.577000													33	129					0	0	1	0	0
PCDHB14	56122	broad.mit.edu	37	5	140605446	140605446	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr5:140605446G>A	ENST00000239449.4	+	1	2369	c.2369G>A	c.(2368-2370)cGa>cAa	p.R790Q	PCDHB14_ENST00000515856.2_Missense_Mutation_p.R637Q	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		790					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGAACTTTCGAAATAGCTTT	0.348000													58	64					0	0	1	0	0
CREB5	9586	broad.mit.edu	37	7	28848902	28848902	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:28848902C>T	ENST00000357727.2	+	9	1515	c.1125C>T	c.(1123-1125)gaC>gaT	p.D375D	CREB5_ENST00000396300.2_Silent_p.D368D|CREB5_ENST00000396298.2_Silent_p.D236D|CREB5_ENST00000396299.2_Silent_p.D342D|CREB5_ENST00000409603.1_Silent_p.D342D	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	375					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						AGGATCCGGACGAGAGGCGGC	0.592000													26	105					0	0	1	0	0
MICALL2	79778	broad.mit.edu	37	7	1474274	1474274	+	Silent	SNP	G	G	A	rs150270558		TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:1474274G>A	ENST00000297508.7	-	17	2848	c.2673C>T	c.(2671-2673)tcC>tcT	p.S891S	MICALL2_ENST00000471899.1_5'UTR|MICALL2_ENST00000405088.4_Silent_p.S679S	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	891						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		ACCAGATCTTGGACAAGCGGA	0.637000													19	143					0	0	1	0	0
JPH3	57338	broad.mit.edu	37	16	87678312	87678312	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr16:87678312G>A	ENST00000284262.2	+	2	1073	c.831G>A	c.(829-831)gaG>gaA	p.E277E		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	277					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CGGTCATCGAGGACGACATCG	0.667000													11	53					0	0	1	0	0
LST3	0	broad.mit.edu	37	12	21205187	21205187	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr12:21205187G>A	ENST00000381541.3	+	10	1554	c.1489G>A	c.(1489-1491)Gag>Aag	p.E497K	LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.E497K|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000421593.2_Missense_Mutation_p.E450K																							TGGTAATAAAGAGCCCATAGT	0.343000													63	90					0	0	1	0	0
OR1I1	126370	broad.mit.edu	37	19	15198323	15198323	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:15198323G>A	ENST00000209540.2	+	1	533	c.447G>A	c.(445-447)tgG>tgA	p.W149*		NM_001004713.1	NP_001004713.1	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I, member 1	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						GAGCATCATGGATGATCACCA	0.557000													16	64					0	0	1	0	0
DHCR24	1718	broad.mit.edu	37	1	55341714	55341714	+	Missense_Mutation	SNP	G	G	A	rs149238468		TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:55341714G>A	ENST00000371269.3	-	3	492	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	DHCR24_ENST00000535035.1_Missense_Mutation_p.R91C	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	132	FAD-binding PCMH-type.				anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding	p.R132G(1)		large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						GGCTCCACACGGACAATCTGT	0.582000													29	3					0	0	1	0	0
MCHR2	84539	broad.mit.edu	37	6	100395693	100395693	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr6:100395693C>T	ENST00000281806.2	-	3	651	c.337G>A	c.(337-339)Gat>Aat	p.D113N	MCHR2_ENST00000445970.1_Missense_Mutation_p.D113N|MCHR2_ENST00000369212.1_Missense_Mutation_p.D113N	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	113						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TTACAAGTATCCAGGGATGTG	0.458000													38	107					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151854958	151854958	+	Missense_Mutation	SNP	T	T	C	rs41274985		TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:151854958T>C	ENST00000355193.2	-	45	11947	c.11729A>G	c.(11728-11730)cAc>cGc	p.H3910R	KMT2C_ENST00000262189.6_Intron					lysine (K)-specific methyltransferase 2C																		AGGAAGAAAGTGCGCAAAGTT	0.418000													3	20					0	0	1	0	0
ACSBG2	81616	broad.mit.edu	37	19	6183189	6183189	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:6183189C>T	ENST00000588304.1	+	10	1524	c.1078C>T	c.(1078-1080)Cta>Tta	p.L360L	ACSBG2_ENST00000591403.1_Silent_p.L410L|ACSBG2_ENST00000586696.1_Silent_p.L410L|ACSBG2_ENST00000588485.1_Silent_p.L223L|ACSBG2_ENST00000252669.5_Silent_p.L410L|ACSBG2_ENST00000591741.1_3'UTR			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	410					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CGAGTTCTTTCTAAGCTTGGA	0.493000													53	80					0	0	1	0	0
GALNT18	374378	broad.mit.edu	37	11	11394177	11394177	+	Splice_Site	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr11:11394177C>T	ENST00000227756.4	-	6	1389		c.e6-1			NM_198516.2	NP_940918.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18																		GGCAGGGCTCCTGCAGGGGCA	0.597000													24	22					0	0	1	0	0
WDR91	29062	broad.mit.edu	37	7	134889048	134889048	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:134889048G>A	ENST00000354475.4	-	6	894	c.863C>T	c.(862-864)tCg>tTg	p.S288L	WDR91_ENST00000423565.1_Missense_Mutation_p.S253L|WDR91_ENST00000344400.5_Missense_Mutation_p.S288L|WDR91_ENST00000485942.1_5'UTR	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	288										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						TTTCTTGGCCGAGCTCTGAGG	0.592000													24	73					0	0	1	0	0
PLCB3	5331	broad.mit.edu	37	11	64022396	64022396	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr11:64022396C>T	ENST00000540288.1	+	4	376	c.273C>T	c.(271-273)ggC>ggT	p.G91G	PLCB3_ENST00000325234.5_Intron|PLCB3_ENST00000279230.6_Silent_p.G91G	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	91					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						AAGTTCTGGGCTTTGGGGGTC	0.612000													14	9					0	0	1	0	0
IL12RB1	3594	broad.mit.edu	37	19	18182929	18182929	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:18182929G>A	ENST00000600835.1	-	10	1317	c.1014C>T	c.(1012-1014)acC>acT	p.T338T	IL12RB1_ENST00000322153.6_Silent_p.T338T|IL12RB1_ENST00000593993.1_Silent_p.T338T|IL12RB1_ENST00000430026.2_Silent_p.T338T			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	338	Fibronectin type-III 4.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CACCTGTGTGGGTGTCGGCAG	0.612000													7	36					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104133226	104133226	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr12:104133226C>T	ENST00000388887.2	+	54	5938	c.5734C>T	c.(5734-5736)Cca>Tca	p.P1912S		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1912					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TCCCAGCTGCCCAAGGTGGAG	0.428000													23	39					0	0	1	0	0
ADK	132	broad.mit.edu	37	10	76468125	76468125	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr10:76468125C>T	ENST00000372734.3	+	11	1147	c.960C>T	c.(958-960)atC>atT	p.I320I	ADK_ENST00000539909.1_Silent_p.I280I|ADK_ENST00000541550.1_Silent_p.I302I|ADK_ENST00000286621.2_Silent_p.I337I	NM_001123.3|NM_001202449.1	NP_001114.2|NP_001189378.1	P55263	ADK_HUMAN	adenosine kinase	337					purine base metabolic process|purine ribonucleoside salvage	cytosol	adenosine kinase activity|ATP binding|metal ion binding|phosphotransferase activity, alcohol group as acceptor			breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	8	Prostate(51;0.0112)|Ovarian(15;0.148)				Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Pegademase bovine(DB00061)|Ribavirin(DB00811)	CTGAATGTATCCGTGCTGGCC	0.453000													46	51					0	0	1	0	0
FAM183B	340286	broad.mit.edu	37	7	38725356	38725356	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:38725356C>T	ENST00000409072.3	-	2	1184	c.250G>A	c.(250-252)Gag>Aag	p.E84K						family with sequence similarity 183, member B											endometrium(1)|lung(7)	8						GTCTGTGCCTCCGGGTACTTC	0.547000													87	143					0	0	1	0	0
RSPO2	340419	broad.mit.edu	37	8	108970494	108970494	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr8:108970494C>T	ENST00000276659.5	-	5	1050	c.430G>A	c.(430-432)Gga>Aga	p.G144R	RSPO2_ENST00000517939.1_Missense_Mutation_p.G77R|RSPO2_ENST00000517781.1_Splice_Site|RSPO2_ENST00000378439.2_Splice_Site	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	144	TSP type-1.				Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			ACTTCACATCCTTCTAGTAAA	0.373000													18	48					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22939100	22939100	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:22939100C>T	ENST00000397104.3	-	8	3020	c.3021G>A	c.(3019-3021)ggG>ggA	p.G1007G						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)				TGTAGGTTTTCCCTCCAGTAT	0.378000													46	58					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3828796	3828796	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr16:3828796G>A	ENST00000262367.5	-	9	2655	c.1846C>T	c.(1846-1848)Cct>Tct	p.P616S	CREBBP_ENST00000382070.3_Missense_Mutation_p.P578S	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	616	KIX.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GCGGGATCAGGTGTTGGGAAG	0.473000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						64	110					0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657641	143657641	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:143657641C>T	ENST00000392899.1	+	1	615	c.578C>T	c.(577-579)tCc>tTc	p.S193F		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					GTGGACACCTCCTCCAATGAG	0.478000													85	101					0	0	1	0	0
PTK7	5754	broad.mit.edu	37	6	43111338	43111338	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr6:43111338C>T	ENST00000230419.4	+	14	2452	c.2231C>T	c.(2230-2232)cCa>cTa	p.P744L	PTK7_ENST00000349241.2_Missense_Mutation_p.P614L|PTK7_ENST00000345201.2_Missense_Mutation_p.P704L|PTK7_ENST00000481273.1_Missense_Mutation_p.P752L|PTK7_ENST00000352931.2_Missense_Mutation_p.P688L	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	744					actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GGCGAGGAGCCAGAGATGGAA	0.677000											OREG0017450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	40					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154396877	154396877	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr5:154396877G>A	ENST00000435029.4	+	1	3618	c.3458G>A	c.(3457-3459)gGa>gAa	p.G1153E		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1153	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	p.G1153V(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GTGACCCCAGGATTGAGCTTC	0.537000													7	88					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133543206	133543206	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr2:133543206G>A	ENST00000409261.1	-	14	1551	c.1178C>T	c.(1177-1179)cCa>cTa	p.P393L	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.P393L	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	393							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GATACGAGTTGGAGGTAGTTC	0.413000													17	38					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179701959	179701959	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr2:179701959C>T	ENST00000420890.2	-	23	4104	c.3987G>A	c.(3985-3987)gaG>gaA	p.E1329E	CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Silent_p.E754E	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	754							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GTAAAGCTCTCTCATGCACTT	0.483000													19	49					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9045922	9045922	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr19:9045922G>A	ENST00000397910.4	-	5	35912	c.35709C>T	c.(35707-35709)tcC>tcT	p.S11903S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11905	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						TAGAGGCACTGGAAAGCCCAG	0.498000													88	92					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26422649	26422649	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr22:26422649C>T	ENST00000335473.7	+	43	6959	c.6709C>T	c.(6709-6711)Ccg>Tcg	p.P2237S	MYO18B_ENST00000536101.1_Missense_Mutation_p.P2237S|MYO18B_ENST00000407587.2_Missense_Mutation_p.P2238S	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2237						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AAATACATCCCCGCTGTCGAG	0.592000													8	30					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57111308	57111308	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr12:57111308G>A	ENST00000454682.1	-	3	4287	c.4006C>T	c.(4006-4008)Cca>Tca	p.P1336S	NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GTTACAGCTGGGGGAGTGGGG	0.632000			T	BCL6	NHL								13	38					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216496828	216496828	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:216496828G>A	ENST00000366943.2	-	8	1924	c.1538C>T	c.(1537-1539)aCc>aTc	p.T513I	USH2A_ENST00000307340.3_Missense_Mutation_p.T513I|USH2A_ENST00000366942.3_Missense_Mutation_p.T513I			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	513	Laminin N-terminal.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCCACTAATGGTGATTTCGTC	0.373000										HNSCC(13;0.011)			103	58					0	0	1	0	0
HTR3A	3359	broad.mit.edu	37	11	113848644	113848644	+	Splice_Site	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr11:113848644G>A	ENST00000504030.2	+	2	664	c.219_splice	c.e2+1	p.V73_splice	HTR3A_ENST00000355556.2_Splice_Site_p.V79_splice|HTR3A_ENST00000299961.5_Splice_Site_p.V58_splice|HTR3A_ENST00000535865.1_5'UTR|HTR3A_ENST00000506841.2_Splice_Site_p.V73_splice|HTR3A_ENST00000375498.2_Splice_Site_p.V79_splice			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	73					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	TCCTCAACGTGGTGAGGCTCA	0.562000													42	23					0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74823702	74823702	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr14:74823702G>A	ENST00000256362.4	+	2	457	c.216G>A	c.(214-216)cgG>cgA	p.R72R		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	72					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						ATGCTCCACGGAACATGCTGC	0.672000													29	27					0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130187919	130187919	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr3:130187919G>A	ENST00000265379.6	+	38	7565	c.7071G>A	c.(7069-7071)ctG>ctA	p.L2357L	COL6A5_ENST00000432398.2_Silent_p.L2357L			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2357	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CTGTCTACCTGGAATTTGATT	0.463000													33	11					0	0	1	0	0
CAMTA2	23125	broad.mit.edu	37	17	4875599	4875599	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:4875599G>A	ENST00000361571.5	-	15	3144	c.2733C>T	c.(2731-2733)gcC>gcT	p.A911A	CAMTA2_ENST00000348066.3_Silent_p.A912A|CAMTA2_ENST00000381311.5_Silent_p.A914A|CAMTA2_ENST00000358183.4_Silent_p.A912A|CAMTA2_ENST00000572543.1_Silent_p.A917A|CAMTA2_ENST00000414043.3_Silent_p.A935A	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	912					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CTGGTGGGAGGGCAGGAAGGG	0.597000													8	97					0	0	1	0	0
GPATCH3	63906	broad.mit.edu	37	1	27224157	27224157	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr1:27224157C>T	ENST00000361720.5	-	2	534	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	171						intracellular	nucleic acid binding			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		GTGAAGGCTTCATTCTCTGCC	0.557000													5	24					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10469463	10469463	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr8:10469463G>A	ENST00000382483.3	-	4	2368	c.2145C>T	c.(2143-2145)gcC>gcT	p.A715A		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	715					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGTTCCCAGAGGCCTGTGTCC	0.607000													12	33					0	0	1	0	0
CHRNA4	1137	broad.mit.edu	37	20	61981006	61981006	+	Splice_Site	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr20:61981006G>A	ENST00000370263.4	-	5	1978	c.1758_splice	c.e5+1	p.S586_splice	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	586					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GGGACTTACCGAGAAGTCTGT	0.687000													10	136					0	0	1	0	0
CCR5	1234	broad.mit.edu	37	3	46415394	46415394	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr3:46415394G>A	ENST00000343801.4	+	3	1358	c.1001G>A	c.(1000-1002)cGa>cAa	p.R334Q	CCR5_ENST00000292303.4_Missense_Mutation_p.R334Q|CCR5_ENST00000445772.1_Missense_Mutation_p.R334Q|RP11-24F11.2_ENST00000451485.1_RNA	NM_000579.3	NP_000570.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	334					cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity	p.R334Q(1)		central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	GCTCCCGAGCGAGCAAGCTCA	0.512000													59	114					0	0	1	0	0
RECQL5	9400	broad.mit.edu	37	17	73658637	73658637	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:73658637G>A	ENST00000420326.2	-	4	852	c.693C>T	c.(691-693)ttC>ttT	p.F231F	RECQL5_ENST00000584999.1_Silent_p.F231F|RECQL5_ENST00000423245.2_Silent_p.F204F|RECQL5_ENST00000317905.5_Silent_p.F231F|RECQL5_ENST00000340830.5_Silent_p.F231F	NM_001003715.3|NM_001003716.3	NP_001003715.1|NP_001003716.1	O94762	RECQ5_HUMAN	RecQ protein-like 5	231					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TCAGTTCCTTGAATTGCACAT	0.522000								Other identified genes with known or suspected DNA repair function					134	326					0	0	1	0	0
FIBIN	387758	broad.mit.edu	37	11	27016325	27016325	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr11:27016325C>T	ENST00000318627.2	+	1	698	c.252C>T	c.(250-252)ttC>ttT	p.F84F		NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog (zebrafish)	84						extracellular region|Golgi apparatus				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						GGGAGGAGTTCACCGTGCTGG	0.647000													3	31					0	0	1	0	0
KIAA0825	285600	broad.mit.edu	37	5	93859644	93859644	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr5:93859644G>A	ENST00000513200.3	-	3	363	c.291C>T	c.(289-291)ttC>ttT	p.F97F	KIAA0825_ENST00000329378.7_Silent_p.F97F|KIAA0825_ENST00000312498.7_Silent_p.F97F|KIAA0825_ENST00000427991.2_Silent_p.F97F	NM_001145678.1	NP_001139150.1	Q8IV33	K0825_HUMAN	KIAA0825	97										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						CCAGTGTTTTGAAAAATTTTA	0.303000													4	19					0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65372878	65372878	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr3:65372878C>T	ENST00000330909.8	-	15	2439	c.2440G>A	c.(2440-2442)Gga>Aga	p.G814R	MAGI1_ENST00000483466.1_Missense_Mutation_p.G814R|MAGI1_ENST00000497477.2_Intron|MAGI1_ENST00000402939.2_Intron	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	814	PDZ 4.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TTGCTCAATCCCGACGCAGGT	0.373000													20	54					0	0	1	0	0
ADAM23	8745	broad.mit.edu	37	2	207427000	207427000	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr2:207427000C>T	ENST00000264377.3	+	13	1656	c.1328C>T	c.(1327-1329)cCt>cTt	p.P443L	ADAM23_ENST00000374416.1_Missense_Mutation_p.P443L|ADAM23_ENST00000374415.3_Missense_Mutation_p.P443L	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	443	Peptidase M12B.				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		CAATGGGAACCTTCTAGCAGA	0.403000													92	52					0	0	1	0	0
HOXA1	3198	broad.mit.edu	37	7	27134238	27134238	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:27134238A>G	ENST00000343060.4	-	2	890	c.829T>C	c.(829-831)Ttc>Ctc	p.F277L	HOXA1_ENST00000355633.5_3'UTR	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN	homeobox A1	277						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CGGTTCTGGAACCAGATCTTC	0.577000													35	80					0	0	1	0	0
ACAD10	80724	broad.mit.edu	37	12	112130549	112130549	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr12:112130549C>T	ENST00000455480.2	+	2	213	c.36C>T	c.(34-36)ctC>ctT	p.L12L	ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000549590.1_Silent_p.L12L|ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000313698.4_Silent_p.L12L	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	12							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CCCCCCGTCTCCAGTGGGTGT	0.612000													70	11					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61829691	61829691	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr10:61829691C>T	ENST00000280772.1	-	37	11139	c.10948G>A	c.(10948-10950)Gat>Aat	p.D3650N	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3650					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ATACTTTTATCCCCTTCCCCC	0.473000													10	90					0	0	1	0	0
OPRL1	4987	broad.mit.edu	37	20	62729381	62729381	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr20:62729381C>T	ENST00000349451.3	+	5	872	c.460C>T	c.(460-462)Cac>Tac	p.H154Y	OPRL1_ENST00000355631.4_Missense_Mutation_p.H154Y|OPRL1_ENST00000336866.2_Missense_Mutation_p.H154Y	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	154					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					AGCCATCTGCCACCCCATCCG	0.572000													18	179					0	0	1	0	0
SLC22A23	63027	broad.mit.edu	37	6	3284208	3284208	+	Splice_Site	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr6:3284208C>T	ENST00000436008.2	-	10	2067	c.1603_splice	c.e10-1	p.G535_splice	SLC22A23_ENST00000406686.3_Splice_Site_p.G527_splice|PSMG4_ENST00000451246.2_Intron|SLC22A23_ENST00000490273.1_Splice_Site_p.G246_splice|SLC22A23_ENST00000380302.4_Splice_Site_p.G246_splice			A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	527					ion transport	integral to membrane	transmembrane transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				TGTCACTCATCCCTGGGGGAA	0.602000													8	39					0	0	1	0	0
RADIL	55698	broad.mit.edu	37	7	4839105	4839105	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:4839105G>A	ENST00000399583.3	-	15	3319	c.3132C>T	c.(3130-3132)gaC>gaT	p.D1044D	RADIL_ENST00000536091.1_3'UTR|RADIL_ENST00000538469.1_Silent_p.D804D	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	1044	PDZ.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GACGGATCAGGTCCACAGCTC	0.632000													5	78					0	0	1	0	0
CLCN7	1186	broad.mit.edu	37	16	1504440	1504440	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr16:1504440G>A	ENST00000382745.4	-	13	1730	c.1125C>T	c.(1123-1125)atC>atT	p.I375I	CLCN7_ENST00000262318.8_Silent_p.I351I|CLCN7_ENST00000448525.1_Silent_p.I351I	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	375						integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				TGAAGACCGGGATCTCGTGGA	0.597000													10	55					0	0	1	0	0
PCDHA13	56136	broad.mit.edu	37	5	140262989	140262989	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr5:140262989C>T	ENST00000289272.2	+	1	1136	c.1136C>T	c.(1135-1137)tCt>tTt	p.S379F	PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.S379F|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATCGTGACTCTGGCTCAAAT	0.532000													95	115					0	0	1	0	0
EEFSEC	60678	broad.mit.edu	37	3	128077182	128077182	+	Silent	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr3:128077182C>T	ENST00000254730.6	+	6	1620	c.1566C>T	c.(1564-1566)ttC>ttT	p.F522F	EEFSEC_ENST00000483457.1_Intron	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	522						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						ACAGTGCCTTCGGCCAGAGCG	0.577000													25	46					0	0	1	0	0
MYBPC3	4607	broad.mit.edu	37	11	47360164	47360164	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr11:47360164C>T	ENST00000545968.1	-	23	2269	c.2215G>A	c.(2215-2217)Gag>Aag	p.E739K	MYBPC3_ENST00000256993.4_Missense_Mutation_p.E738K|MYBPC3_ENST00000399249.2_Missense_Mutation_p.E739K	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	738	Ig-like C2-type 5.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		TCTGCCCCCTCGACCGTGAAG	0.622000													6	28					0	0	1	0	0
OR6C6	283365	broad.mit.edu	37	12	55688295	55688295	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr12:55688295G>A	ENST00000358433.2	-	1	721	c.722C>T	c.(721-723)tCc>tTc	p.S241F		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AATCATGTGGGAAGTACAGGT	0.378000													38	10					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117819628	117819628	+	Silent	SNP	G	G	A	rs138726121		TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr9:117819628G>A	ENST00000350763.4	-	15	4794	c.4383C>T	c.(4381-4383)acC>acT	p.T1461T	TNC_ENST00000423613.2_Intron|TNC_ENST00000542877.1_Silent_p.T1097T|TNC_ENST00000346706.3_Intron|TNC_ENST00000341037.4_Silent_p.T1370T|TNC_ENST00000340094.3_Silent_p.T1097T|TNC_ENST00000345230.3_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000535648.1_Silent_p.T1097T	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1461	Fibronectin type-III 10.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						AGATCCCATCGGTAGCCATCC	0.433000													28	152					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82580577	82580577	+	Silent	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:82580577G>A	ENST00000423517.2	-	6	9664	c.9327C>T	c.(9325-9327)tcC>tcT	p.S3109S	PCLO_ENST00000333891.8_Silent_p.S3109S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3040					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGCTGAAAATGGAGCCAGGTT	0.463000													15	22					0	0	1	0	0
SHROOM4	57477	broad.mit.edu	37	X	50341481	50341481	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chrX:50341481G>A	ENST00000376020.2	-	8	4022	c.3997C>T	c.(3997-3999)Cga>Tga	p.R1333*	SHROOM4_ENST00000460112.3_Nonsense_Mutation_p.R1217*|SHROOM4_ENST00000289292.7_Nonsense_Mutation_p.R1333*	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1333	ASD2.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					AGCAGCCCTCGCTGGGCCTCC	0.478000													11	2					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78969097	78969097	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr9:78969097C>T	ENST00000545128.1	+	36	5673	c.5135C>T	c.(5134-5136)cCc>cTc	p.P1712L		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	777					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						TCTGATCCCCCCAGTGCCCAG	0.617000													2	5					0	0	1	0	0
SDHAP1	255812	broad.mit.edu	37	3	195711343	195711344	+	RNA	INS	-	-	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr3:195711343_195711344insT	ENST00000427841.1	-	0	585					NR_003264.2																						AAAGACTTCTCTGTGAGCTTTG	0.381													8	1	---	---	---	---					
ICK	22858	broad.mit.edu	37	6	52883129	52883129	+	Splice_Site	DEL	T	T	-			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr6:52883129delT	ENST00000356971.3	-	8	1151	c.663_splice	c.e8+1	p.K221_splice	ICK_ENST00000350082.5_Splice_Site_p.K221_splice	NM_016513.4	NP_057597.2	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	221	Protein kinase.				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					TATCATTACCTTTTTTGGTGT	0.502													7	463	---	---	---	---					
AC005077.5	0	broad.mit.edu	37	7	75804673	75804673	+	RNA	DEL	A	A	-			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr7:75804673delA	ENST00000437494.1	+	0	57																											atctcgaaccaaaaaaaaaag	0.542													3	4	---	---	---	---					
ZNF367	195828	broad.mit.edu	37	9	99154819	99154835	+	Splice_Site	DEL	CTTCAAAACACAAGGTT	CTTCAAAACACAAGGTT	-			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr9:99154819_99154835delCTTCAAAACACAAGGTT	ENST00000375256.4	-	4	988		c.e4-1			NM_153695.3	NP_710162.1	Q7RTV3	ZN367_HUMAN	zinc finger protein 367						regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12		Acute lymphoblastic leukemia(62;0.0167)				CTCAGGCAGCCTTCAAAACACAAGGTTAACACCTGTC	0.470													33	41	---	---	---	---					
VCL	7414	broad.mit.edu	37	10	75867067	75867072	+	In_Frame_Del	DEL	GGAGCC	GGAGCC	-			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr10:75867067_75867072delGGAGCC	ENST00000211998.4	+	17	2608_2613	c.2514_2519delGGAGCC	c.(2512-2520)cat>ca	p.QEP838del	VCL_ENST00000372755.3_In_Frame_Del_p.QEP838del|VCL_ENST00000417648.2_Intron	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	838	Linker (Pro-rich).|Pro-rich.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					TCCAACCTCAGGAGCCTGACTTCCCG	0.510													16	18	---	---	---	---					
MMP12	4321	broad.mit.edu	37	11	102738793	102738794	+	RNA	INS	-	-	T	rs35342965	by1000genomes	TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr11:102738793_102738794insT	ENST00000532855.1	-	0	727_728							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	TGAGGAACAAGTGGTGCCTAAG	0.416													4	7	---	---	---	---					
LRIG3	121227	broad.mit.edu	37	12	59268350	59268351	+	Frame_Shift_Ins	INS	-	-	G			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr12:59268350_59268351insG	ENST00000320743.3	-	17	2986_2987	c.2700_2701insC	c.(2698-2703)acgccafs	p.P901fs	LRIG3_ENST00000379141.4_Frame_Shift_Ins_p.P841fs	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	901						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TCAATATGGCAGGTCCCTTTGA	0.401			T	ROS1	NSCLC								8	918	---	---	---	---					
CLIP1	6249	broad.mit.edu	37	12	122812690	122812691	+	Frame_Shift_Ins	INS	-	-	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr12:122812690_122812691insT	ENST00000358808.2	-	16	3173_3174	c.3019_3020insA	c.(3019-3021)ccafs	p.P1007fs	CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1018					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTGGTTGTGGCTTGTTTCCATT	0.505													12	210	---	---	---	---					
RBM26	64062	broad.mit.edu	37	13	79918806	79918807	+	Frame_Shift_Ins	INS	-	-	T			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr13:79918806_79918807insT	ENST00000438737.2	-	15	2621_2622	c.2181_2182insA	c.(2179-2184)aaaggafs	p.G728fs	RBM26_ENST00000438724.1_Frame_Shift_Ins_p.G704fs|RBM26_ENST00000267229.7_Frame_Shift_Ins_p.G701fs			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	728					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GTACTTACCTGTTTTTTTTTCT	0.332													7	80	---	---	---	---					
MIR7162	102466227	broad.mit.edu	37	15	62538522	62538523	+	RNA	INS	-	-	GA	rs3055695		TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr15:62538522_62538523insGA	ENST00000570077.1	-	0	693_694																											GGGGGCTCCGGGTAGGGGTTCA	0.609													2	4	---	---	---	---					
LLGL2	3993	broad.mit.edu	37	17	73569700	73569701	+	Frame_Shift_Ins	INS	-	-	G	rs112393371	byFrequency	TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chr17:73569700_73569701insG	ENST00000392550.3	+	21	2981_2982	c.2864_2865insG	c.(2863-2865)cagfs	p.Q955fs	LLGL2_ENST00000577200.1_Frame_Shift_Ins_p.Q955fs|LLGL2_ENST00000167462.5_Frame_Shift_Ins_p.Q955fs	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	955					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			AAGAAGGCCCCGAGCCGAGCCA	0.668													8	40	---	---	---	---					
SPIN3	169981	broad.mit.edu	37	X	57021207	57021216	+	Frame_Shift_Del	DEL	CCATCCGTGC	CCATCCGTGC	-			TCGA-ER-A3PL-06A-11D-A23B-08	TCGA-ER-A3PL-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e75632-ffa8-4762-abae-360c6bbe0c7e	2b317c56-0025-4bed-93e4-70d9a1cb6815	g.chrX:57021207_57021216delCCATCCGTGC	ENST00000374919.3	-	2	487_496	c.165_174delGCACGGATGG	c.(163-174)cafs	p.QHGW55fs		NM_001010862.2	NP_001010862.2	Q5JUX0	SPIN3_HUMAN	spindlin family, member 3	55					gamete generation					central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						CTCCATCTTTCCATCCGTGCTGAATTCTGC	0.486													30	148	---	---	---	---					
