Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CLEC3A	10143	broad.mit.edu	37	16	78056626	78056626	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr16:78056626C>T	uc002ffh.4	+	0	184	c.103C>T	c.(103-105)Cgt>Tgt	p.R35C		NM_005752	NP_005743	O75596	CLC3A_HUMAN	Homo sapiens C-type lectin domain family 3, member A (CLEC3A), transcript variant 1, mRNA.	35					skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						GCACAGCAAACGTCGAGTGAG	0.473000														24			11		0	0	0.069234	0	0
SERPINB7	8710	broad.mit.edu	37	18	61460480	61460480	+	Missense_Mutation	SNP	T	G	G			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr18:61460480T>G	uc002ljl.3	+	3	401	c.305T>G	c.(304-306)cTt>cGt	p.L102R	SERPINB7_uc002ljm.3_Missense_Mutation_p.L102R|SERPINB7_uc010xet.2_Missense_Mutation_p.L85R|SERPINB7_uc010dqg.3_Missense_Mutation_p.L102R	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	102					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				GTGAATGGGCTTTTTGCTGAA	0.368000														47			34		0	0	0.183431	0	0
MYRIP	25924	broad.mit.edu	37	3	40208373	40208373	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr3:40208373G>A	uc003cka.3	+	5	722	c.587G>A	c.(586-588)cGg>cAg	p.R196Q	MYRIP_uc010hhu.3_Non-coding_Transcript|MYRIP_uc010hhv.3_Missense_Mutation_p.R196Q|MYRIP_uc010hhw.3_Missense_Mutation_p.R107Q|MYRIP_uc011ayz.2_Missense_Mutation_p.R9Q	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), mRNA.	196	Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding	p.R196L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		GTGGCCCTACGGGTGGCTGAA	0.517000														85			12		0	0	0.080935	0	0
SNX7	51375	broad.mit.edu	37	1	99167440	99167440	+	Missense_Mutation	SNP	A	G	G			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:99167440A>G	uc010ouc.2	+	6	1158	c.1106A>G	c.(1105-1107)aAa>aGa	p.K369R	SNX7_uc001dsa.3_Missense_Mutation_p.K305R|SNX7_uc010oud.2_Missense_Mutation_p.K314R	NM_015976	NP_057060	Q9UNH6	SNX7_HUMAN	Homo sapiens sorting nexin 7 (SNX7), transcript variant 1, mRNA.	305					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		TTGACCTATAAAAAGGCAGAT	0.308000														112			29		0	0	0.125774	0	0
DAO	1610	broad.mit.edu	37	12	109278890	109278890	+	Silent	SNP	G	A	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr12:109278890G>A	uc001tnr.4	+	1	779	c.108G>A	c.(106-108)gcG>gcA	p.A36A	DAO_uc001tnq.4_Silent_p.A36A|DAO_uc009zvb.3_Non-coding_Transcript|DAO_uc001tns.4_Non-coding_Transcript	NM_001917	NP_001908	P14920	OXDA_HUMAN	Homo sapiens D-amino-acid oxidase (DAO), mRNA.	36					glyoxylate metabolic process	peroxisomal matrix	D-amino-acid oxidase activity|binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						AGGTCTACGCGGACCGCTTCA	0.622000														83			30		0	0	0.125774	0	0
DHX33	56919	broad.mit.edu	37	17	5365761	5365761	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr17:5365761G>A	uc002gca.3	-	2	757	c.556C>T	c.(556-558)Cgg>Tgg	p.R186W	DHX33_uc002gbz.3_5'Flank|DHX33_uc002gcb.3_Missense_Mutation_p.R13W|DHX33_uc010clf.3_Intron	NM_020162	NP_001186628	Q9H6R0	DHX33_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 33 (DHX33), transcript variant 1, mRNA.	186	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CTGTATTTCCGAAGCAAAGAG	0.463000														85			15		0	0	0.119110	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	T	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr20:33345744C>T	uc002xav.3	-	7	3378	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_uc002xaw.3_Silent_p.Q269Q|NCOA6_uc021wcd.1_Silent_p.Q269Q|NCOA6_uc021wce.1_Silent_p.Q269Q|NCOA6_uc021wcf.1_Silent_p.Q269Q|NCOA6_uc010gew.1_Silent_p.Q226Q	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(29)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000														101			9		0	0	0.047766	0	0
NCOR2	9612	broad.mit.edu	37	12	124825185	124825185	+	Silent	SNP	G	A	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr12:124825185G>A	uc021rga.1	-	34	5439	c.5322C>T	c.(5320-5322)ccC>ccT	p.P1774P	NCOR2_uc021rgb.1_Silent_p.P1758P|NCOR2_uc010tbb.2_Silent_p.P1767P|NCOR2_uc010tbc.2_Silent_p.P1757P|NCOR2_uc021rgc.1_Silent_p.P1757P|NCOR2_uc010tba.2_Silent_p.P1775P|NCOR2_uc010tax.2_5'Flank	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	1775					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGCTGCTGAAGGGCTGGGGCG	0.716000														14			3		0	0	0.115264	0	0
CTAGE10P	220429	broad.mit.edu	37	13	50466911	50466911	+	Missense_Mutation	SNP	G	A	A	rs34448316	by1000genomes	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr13:50466911G>A	uc001vdk.2	+	0	2367	c.2185G>A	c.(2185-2187)Gct>Act	p.A729T						Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA.																		CATGTTTGGAGCTTCTCCAGA	0.522000														132			13		0	0	0.093190	0	0
LRRK2	120892	broad.mit.edu	37	12	40704299	40704299	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr12:40704299C>T	uc001rmg.4	+	30	4505	c.4384C>T	c.(4384-4386)Cgc>Tgc	p.R1462C	LRRK2_uc009zjw.3_Missense_Mutation_p.R300C|LRRK2_uc001rmi.3_Missense_Mutation_p.R295C	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	1462	Roc.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	p.R1462H(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TGAGAAGCAACGCAAAGCCTG	0.483000														134			27		0	0	0.099896	0	0
LHCGR	3973	broad.mit.edu	37	2	48936157	48936157	+	Silent	SNP	G	A	A	rs61996322	byFrequency	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:48936157G>A	uc002rwu.4	-	7	680	c.610C>T	c.(610-612)Cta>Tta	p.L204L	STON1-GTF2A1L_uc021vhf.1_Intron|LHCGR_uc002rwv.2_Non-coding_Transcript	NM_000233	NP_000224	P22888	LSHR_HUMAN	Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA.	204					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	p.E203K(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	TTTTCCTTTAGCTCCCTGTGG	0.498000														85			5		0	0	0.029380	0	0
UGT1A1	54658	broad.mit.edu	37	2	234681097	234681097	+	Silent	SNP	C	T	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:234681097C>T	uc002vuw.3	+	4	1497	c.1497C>T	c.(1495-1497)gtC>gtT	p.V499V	UGT1A1_uc002vup.3_Silent_p.V495V|UGT1A1_uc002vur.3_Silent_p.V495V|UGT1A1_uc002vus.3_Silent_p.V495V|UGT1A1_uc002vut.3_Silent_p.V495V|UGT1A1_uc002vuu.3_Silent_p.V230V|UGT1A1_uc002vuv.4_Silent_p.V497V|UGT1A1_uc002vux.3_Silent_p.V499V|UGT1A1_uc002vuy.3_Silent_p.V499V|UGT1A1_uc002vva.3_Non-coding_Transcript|UGT1A1_uc002vvb.3_Silent_p.V498V	NM_019078	NP_061951	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA.	498					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TCTTGGCCGTCGTGCTGACAG	0.542000														75			63		0	0	0.139131	0	0
KRT6A	3853	broad.mit.edu	37	12	52884454	52884454	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr12:52884454G>A	uc001sam.3	-	4	1185	c.976C>T	c.(976-978)Cgc>Tgc	p.R326C		NM_005554	NP_005545	P02538	K2C6A_HUMAN	Homo sapiens keratin 6A (KRT6A), mRNA.	326	Linker 12.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCAGGTTGCGGTTGTTGTCC	0.537000														212			40		0	0	0.074837	0	0
FRG1B	284802	broad.mit.edu	37	20	29624093	29624093	+	Splice_Site	SNP	G	T	T	rs75468660		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr20:29624093G>T	uc010ztl.1	+	1	58	c.26_splice	c.e1+1	p.R9_splice	FRG1B_uc002wvm.1_Intron|FRG1B_uc010ztj.1_Intron|FRG1B_uc010gdr.1_Intron|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.?(6)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CTGATTCCAGGTGAGCTTATG	0.299000														22			3		0.004672	0.00477001	0.115264	1	0
FAM167A	83648	broad.mit.edu	37	8	11301819	11301819	+	Silent	SNP	G	A	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr8:11301819G>A	uc010lry.1	-	1	722	c.102C>T	c.(100-102)acC>acT	p.T34T	FAM167A_uc003wtw.2_Silent_p.T34T	NM_053279	NP_444509	Q96KS9	F167A_HUMAN	Homo sapiens family with sequence similarity 167, member A (FAM167A), mRNA.	34										breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)	9						TCAGTTTCTCGGTGAGGGCCT	0.672000														115			7		0	0	0.029380	0	0
FBXW10	10517	broad.mit.edu	37	17	18675802	18675802	+	Missense_Mutation	SNP	C	T	T	rs150329747	byFrequency	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr17:18675802C>T	uc002gul.3	+	10	2403	c.2171C>T	c.(2170-2172)aCg>aTg	p.T724M	FBXW10_uc002guj.3_Missense_Mutation_p.T695M|FBXW10_uc002guk.3_Missense_Mutation_p.T695M|FBXW10_uc010cqh.2_Missense_Mutation_p.T642M	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	Homo sapiens F-box and WD repeat domain containing 10 (FBXW10), mRNA.	695										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GTggaaaaaacgaaacaaaag	0.413000														182			11		0	0	0.080935	0	0
KATNB1	10300	broad.mit.edu	37	16	57787404	57787404	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr16:57787404G>A	uc002eml.1	+	11	1524	c.1150G>A	c.(1150-1152)Gag>Aag	p.E384K		NM_005886	NP_005877	Q9BVA0	KTNB1_HUMAN	Homo sapiens katanin p80 (WD repeat containing) subunit B 1 (KATNB1), mRNA.	384	Interaction with PAFAH1B1 (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity	p.E384K(2)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				GGACTACAACGAGATCTTCCA	0.667000														37			17		0	0	0.146539	0	0
PTH2	113091	broad.mit.edu	37	19	49926533	49926533	+	Missense_Mutation	SNP	G	C	C			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:49926533G>C	uc002pnn.1	-	0	166	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V		NM_178449	NP_848544	Q96A98	TIP39_HUMAN	Homo sapiens parathyroid hormone 2 (PTH2), mRNA.	22					neuropeptide signaling pathway	extracellular region		p.L22V(4)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		GGCACCACcagcagcagcagc	0.692000														25			3		0	0	0.115264	0	0
ADCY8	114	broad.mit.edu	37	8	131793086	131793086	+	Silent	SNP	G	A	A	rs145809062		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr8:131793086G>A	uc003ytd.4	-	17	3562	c.3306C>T	c.(3304-3306)ggC>ggT	p.G1102G	ADCY8_uc010mds.3_Silent_p.G971G	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	1102					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.G1102G(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GTTTCTTAGCGCCGATAACGC	0.567000										HNSCC(32;0.087)				186			67		0	0	0.139131	0	0
GNAS	2778	broad.mit.edu	37	20	57484420	57484420	+	Missense_Mutation	SNP	C	T	T	rs11554273		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr20:57484420C>T	uc002xzw.3	+	7	2815	c.2530C>T	c.(2530-2532)Cgt>Tgt	p.R844C	GNAS_uc021wfl.1_3'UTR|GNAS_uc002xzt.3_Missense_Mutation_p.R169C|GNAS_uc010gjq.3_Missense_Mutation_p.R142C|GNAS_uc002xzx.3_Missense_Mutation_p.R142C|GNAS_uc021wfn.1_Missense_Mutation_p.R201C|GNAS_uc021wfo.1_Missense_Mutation_p.R202C|GNAS_uc002yaa.3_Missense_Mutation_p.R186C|GNAS_uc021wfp.1_Missense_Mutation_p.R187C|GNAS_uc002yad.3_Missense_Mutation_p.R92C|GNAS_uc002yae.3_Missense_Mutation_p.R126C	NM_080425	NP_001070958	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA.	201					G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.R201C(228)|p.R844C(9)|p.R201S(5)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCTTCGCTGCCGTGTCCTGAC	0.428000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)				97			91		0	0	0.139131	0	0
RNF186	54546	broad.mit.edu	37	1	20141295	20141295	+	Silent	SNP	G	A	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:20141295G>A	uc001bcr.3	-	0	477	c.300C>T	c.(298-300)cgC>cgT	p.R100R		NM_019062	NP_061935	Q9NXI6	RN186_HUMAN	Homo sapiens ring finger protein 186 (RNF186), mRNA.	100						integral to membrane	zinc ion binding			kidney(1)|lung(3)|urinary_tract(1)	5		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCATGGTCGCGCAGGCTGC	0.667000														81			5		0	0	0.014758	0	0
WASH2P	375260	broad.mit.edu	37	2	114356239	114356239	+	Silent	SNP	T	C	C			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:114356239T>C	uc002tkh.3	+	5	775	c.717T>C	c.(715-717)cgT>cgC	p.R239R	WASH2P_uc002tka.3_Non-coding_Transcript|WASH2P_uc002tkd.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 2 pseudogene (WASH2P), non-coding RNA.																		CCTTTGCCCGTGTGTCAGACT	0.642000														9			3		0	0	0.029380	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	86033	86033	+	RNA	SNP	T	C	C			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chrGL000211.1:86033T>C	uc003bnz.1	+	5		c.781T>C			FLJ43315_uc003boa.3_Non-coding_Transcript					Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		CCATAGGGAGTTTATAGCTTC	0.403000														20			4		0	0	0.150653	0	0
AFF3	3899	broad.mit.edu	37	2	100210198	100210198	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:100210198C>T	uc002taf.3	-	13	2144	c.2000G>A	c.(1999-2001)cGc>cAc	p.R667H	AFF3_uc002tag.3_Missense_Mutation_p.R642H|AFF3_uc010fiq.1_Missense_Mutation_p.R642H|AFF3_uc010yvr.1_Missense_Mutation_p.R795H|AFF3_uc002tah.1_Missense_Mutation_p.R667H	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	642					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.R667C(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CACGGAGGAGCGCAGCTCCTT	0.657000														43			23		0	0	0.062417	0	0
NLRP13	126204	broad.mit.edu	37	19	56424179	56424179	+	Missense_Mutation	SNP	C	A	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:56424179C>A	uc010ygg.2	-	4	1029	c.1004G>T	c.(1003-1005)tGg>tTg	p.W335L		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	335	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CTCCTGGTACCAGTCTGTACA	0.463000														95			59		7.47603e-22	8.52734e-22	0.139131	1	0
ARHGAP20	57569	broad.mit.edu	37	11	110494918	110494918	+	Silent	SNP	G	C	C			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr11:110494918G>C	uc001pkz.1	-	4	756	c.471C>G	c.(469-471)ggC>ggG	p.G157G	ARHGAP20_uc001pky.1_Silent_p.G134G|ARHGAP20_uc009yyb.1_Silent_p.G121G|ARHGAP20_uc001pla.1_Silent_p.G121G	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Homo sapiens Rho GTPase activating protein 20 (ARHGAP20), mRNA.	157	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		CTGTGGGCCAGCCCAAAACAA	0.393000														22			16		0	0	0.160694	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946437	16946437	+	RNA	SNP	C	T	T	rs2262202		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:16946437C>T	uc010ocf.2	-	2		c.461G>A			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		AGCCTTCCGCCGGGCCAGCAG	0.672000														13			3		0	0	0.150653	0	0
ANXA11	311	broad.mit.edu	37	10	81928927	81928927	+	Missense_Mutation	SNP	T	C	C			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr10:81928927T>C	uc010qlx.1	-	1	709	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	ANXA11_uc001kbq.1_Missense_Mutation_p.Y120C|ANXA11_uc001kbr.1_Missense_Mutation_p.Y120C|ANXA11_uc001kbs.1_Missense_Mutation_p.Y120C|ANXA11_uc001kbt.1_Missense_Mutation_p.Y120C|ANXA11_uc010qly.1_Missense_Mutation_p.Y87C|ANXA11_uc001kbu.1_Missense_Mutation_p.Y120C	NM_145869	NP_665876	P50995	ANX11_HUMAN	Homo sapiens annexin A11 (ANXA11), transcript variant c, mRNA.	120					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	S100 alpha binding|calcium-dependent phospholipid binding|calcium-dependent protein binding			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			GTATGGCGGATATGAGGGCAT	0.692000														17			7		0	0	0.029380	0	0
FAM184A	79632	broad.mit.edu	37	6	119295669	119295669	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr6:119295669C>T	uc003pyj.3	-	13	3187	c.2839G>A	c.(2839-2841)Gag>Aag	p.E947K	FAM184A_uc003pyk.4_Intron|FAM184A_uc003pyl.4_Intron|FAM184A_uc003pyi.3_Non-coding_Transcript	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	Homo sapiens family with sequence similarity 184, member A (FAM184A), transcript variant 1, mRNA.	947										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						ATATTTTTCTCTCTGAGGTGG	0.333000														116			38		0	0	0.069456	0	0
RTN1	6252	broad.mit.edu	37	14	60212959	60212959	+	Nonsense_Mutation	SNP	A	T	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr14:60212959A>T	uc001xen.1	-	1	691	c.482T>A	c.(481-483)tTa>tAa	p.L161*		NM_021136	NP_066959	Q16799	RTN1_HUMAN	Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA.	161					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	p.G160C(1)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		AGAACTAAATAAGCCACGAGA	0.517000														133			13		0	0	0.119110	0	0
ING3	54556	broad.mit.edu	37	7	120590817	120590817	+	Splice_Site	SNP	T	C	C			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr7:120590817T>C	uc003vjn.3	+	1	1	c.-133_splice	c.e1-1		ING3_uc011knr.1_Splice_Site|ING3_uc003vjl.3_Splice_Site|ING3_uc003vjm.1_Splice_Site|ING3_uc003vjo.3_Splice_Site|ING3_uc003vjp.3_Splice_Site|ING3_uc011kns.2_5'Flank	NM_019071	NP_061944	Q9NXR8	ING3_HUMAN	Homo sapiens inhibitor of growth family, member 3 (ING3), transcript variant 1, mRNA.						histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					tttttttttcttttttttttt	0.542000														15			6		0	0	0.029380	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94879384	94879384	+	Missense_Mutation	SNP	C	A	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr7:94879384C>A	uc003unp.3	+	8	2429	c.2147C>A	c.(2146-2148)aCc>aAc	p.T716N	PPP1R9A_uc010lfj.3_Missense_Mutation_p.T738N|PPP1R9A_uc011kif.2_Missense_Mutation_p.T716N|PPP1R9A_uc003unq.3_Missense_Mutation_p.T716N|PPP1R9A_uc011kig.2_Missense_Mutation_p.T716N	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	716	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CTAGAAAAAACCCAACTCCAA	0.413000										HNSCC(28;0.073)				49			18		1.02788e-11	1.15439e-11	0.160694	1	0
CTAGE10P	220429	broad.mit.edu	37	13	50466615	50466615	+	Missense_Mutation	SNP	G	A	A	rs150112365	by1000genomes	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr13:50466615G>A	uc001vdk.2	+	0	2071	c.1889G>A	c.(1888-1890)tGt>tAt	p.C630Y						Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA.																		TATTCTAATTGTGCTAGACGC	0.433000														129			10		0	0	0.080935	0	0
ZNF302	55900	broad.mit.edu	37	19	35176007	35176007	+	Silent	SNP	C	T	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:35176007C>T	uc002nvr.1	+	5	1460	c.1197C>T	c.(1195-1197)caC>caT	p.H399H	ZNF302_uc002nvp.1_Silent_p.H355H|ZNF302_uc002nvq.1_Silent_p.H355H|ZNF302_uc002nvs.1_Silent_p.H355H	NM_018443	NP_060913	Q9NR11	ZN302_HUMAN	Homo sapiens zinc finger protein 302 (ZNF302), transcript variant 1, mRNA.	434					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GTAGCTCACACCTTACTCAAC	0.373000														72			14		0	0	0.105934	0	0
PGAP3	93210	broad.mit.edu	37	17	37842226	37842226	+	Silent	SNP	G	A	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr17:37842226G>A	uc002hsj.3	-	1	271	c.228C>T	c.(226-228)acC>acT	p.T76T	ERBB2_uc010cwa.3_5'Flank|ERBB2_uc002hsm.3_5'Flank|PGAP3_uc010cvy.3_5'Flank|PGAP3_uc010wej.2_Silent_p.T76T|PGAP3_uc002hsk.3_Silent_p.T76T|PGAP3_uc010cvz.3_Silent_p.T76T|ERBB2_uc002hsl.3_5'Flank	NM_033419	NP_219487	Q96FM1	PGAP3_HUMAN	Homo sapiens post-GPI attachment to proteins 3 (PGAP3), mRNA.	76					GPI anchor biosynthetic process	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	hydrolase activity, acting on ester bonds			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						AGAGCCCAACGGTGACCCACA	0.537000														26			6		0	0	0.047766	0	0
NBPF10	100132406	broad.mit.edu	37	1	144828683	144828683	+	Missense_Mutation	SNP	C	G	G			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:144828683C>G	uc009wig.1	+	21	2916	c.2722C>G	c.(2722-2724)Cag>Gag	p.Q908E	NBPF10_uc010oxo.1_Missense_Mutation_p.Q835E|NBPF10_uc010oxn.1_Missense_Mutation_p.Q808E|NBPF10_uc021oth.1_Missense_Mutation_p.Q570E|NBPF10_uc021otj.1_Missense_Mutation_p.Q937E|NBPF10_uc021oto.1_Missense_Mutation_p.Q725E|NBPF10_uc021otr.1_Missense_Mutation_p.Q237E|NBPF10_uc021ots.1_Intron|NBPF10_uc001ekk.1_Missense_Mutation_p.Q481E|NBPF10_uc010oyd.1_Missense_Mutation_p.Q237E|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Non-coding_Transcript|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	910								p.Q577E(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ATTTGAGGAACAGCACATCAG	0.438000														400			43		0	0	0.111260	0	0
FARS2	10667	broad.mit.edu	37	6	5771561	5771561	+	Missense_Mutation	SNP	C	A	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr6:5771561C>A	uc010jnv.1	+	6	1591	c.1255C>A	c.(1255-1257)Cgc>Agc	p.R419S	FARS2_uc003mwr.2_Missense_Mutation_p.R419S	NM_006567	NP_006558	O95363	SYFM_HUMAN	Homo sapiens phenylalanyl-tRNA synthetase 2, mitochondrial (FARS2), nuclear gene encoding mitochondrial protein, mRNA.	419	FDX-ACB.				phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	CATCACGTACCGCCACATGGA	0.592000														41			33		6.04164e-23	6.94551e-23	0.153744	1	0
SEC62	7095	broad.mit.edu	37	3	169710773	169710773	+	Silent	SNP	A	G	G			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr3:169710773A>G	uc003fgg.3	+	7	1153	c.1122A>G	c.(1120-1122)caA>caG	p.Q374Q	SEC62_uc003fgh.3_Silent_p.Q374Q	NM_003262	NP_003253	Q99442	SEC62_HUMAN	Homo sapiens SEC62 homolog (S. cerevisiae) (SEC62), mRNA.	374					cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						TGGAACAGCAAACAGATGGGG	0.403000														57			4		0	0	0.150653	0	0
ABHD1	84696	broad.mit.edu	37	2	27351452	27351452	+	Silent	SNP	C	T	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:27351452C>T	uc002rit.3	+	1	418	c.258C>T	c.(256-258)ccC>ccT	p.P86P	ABHD1_uc002riu.3_Non-coding_Transcript|ABHD1_uc002riv.3_Intron	NM_032604	NP_115993	Q96SE0	ABHD1_HUMAN	Homo sapiens abhydrolase domain containing 1 (ABHD1), mRNA.	86						integral to membrane	carboxylesterase activity			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTCTCAGCCCCTAGTCCTTT	0.473000														74			46		0	0	0.117977	0	0
BCAT1	586	broad.mit.edu	37	12	25002795	25002795	+	Missense_Mutation	SNP	T	G	G			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr12:25002795T>G	uc001rgd.4	-	5	1126	c.599A>C	c.(598-600)aAt>aCt	p.N200T	BCAT1_uc001rgc.3_Missense_Mutation_p.N199T|BCAT1_uc010six.2_Missense_Mutation_p.N212T|BCAT1_uc010siy.2_Missense_Mutation_p.N163T|BCAT1_uc001rge.4_Missense_Mutation_p.N139T	NM_005504	NP_005495	P54687	BCAT1_HUMAN	Homo sapiens branched chain amino-acid transaminase 1, cytosolic (BCAT1), transcript variant 1, mRNA.	200					G1/S transition of mitotic cell cycle|branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	GGACACTGGATTAAAGGTTCC	0.483000														500			32		0	0	0.144211	0	0
RASSF4	83937	broad.mit.edu	37	10	45467190	45467190	+	Missense_Mutation	SNP	T	A	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr10:45467190T>A	uc001jbp.3	+	1	1674	c.125T>A	c.(124-126)cTa>cAa	p.L42Q	RASSF4_uc001jbo.3_Intron|RASSF4_uc009xmn.3_Intron|RASSF4_uc001jbq.3_Intron			Q9H2L5	RASF4_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 4 (RASSF4), mRNA.	0					cell cycle|signal transduction		protein binding			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						TGCCACACCCTAGGAGTACAT	0.547000														33			29		0	0	0.125774	0	0
ATM	472	broad.mit.edu	37	11	108124539	108124539	+	Splice_Site	SNP	A	C	C			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr11:108124539A>C	uc001pkb.1	+	13	2284	c.1899_splice	c.e13-2	p.C633_splice	ATM_uc009yxr.1_Splice_Site_p.C633_splice	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	633					DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		ACTTTCTTGAAGTGAACACCA	0.294000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				18			30		0	0	0.125774	0	0
MGA	23269	broad.mit.edu	37	15	42059147	42059147	+	Missense_Mutation	SNP	C	G	G			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr15:42059147C>G	uc010ucy.2	+	23	9048	c.8867C>G	c.(8866-8868)gCa>gGa	p.A2956G	MGA_uc010ucz.2_Missense_Mutation_p.A2747G	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	2917						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GGCCTCCCTGCAGAGCCCGAA	0.483000														46			7		0	0	0.029380	0	0
TH1L	51497	broad.mit.edu	37	20	57564956	57564956	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr20:57564956C>T	uc002yag.3	+	6	755	c.728C>T	c.(727-729)gCc>gTc	p.A243V	TH1L_uc002yaf.1_Non-coding_Transcript	NM_198976	NP_945327	Q8IXH7	NELFD_HUMAN	Homo sapiens TH1-like (Drosophila) (TH1L), transcript variant 1, mRNA.	243					negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23	all_lung(29;0.00711)		Colorectal(105;0.109)			TTTGCCCAGGCCATGATGTCC	0.637000														74			27		0	0	0.091800	0	0
FAT4	79633	broad.mit.edu	37	4	126373660	126373660	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr4:126373660G>A	uc003ifj.4	+	8	11489	c.11489G>A	c.(11488-11490)cGt>cAt	p.R3830H	FAT4_uc011cgp.2_Missense_Mutation_p.R2128H|FAT4_uc003ifi.1_Missense_Mutation_p.R1308H	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3830	EGF-like 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R3830C(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTAAAAAGCCGTGAGAGTCTT	0.483000														97			14		0	0	0.119110	0	0
ITPR2	3709	broad.mit.edu	37	12	26580903	26580903	+	Silent	SNP	G	A	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr12:26580903G>A	uc001rhg.3	-	48	7305	c.6888C>T	c.(6886-6888)ctC>ctT	p.L2296L	ITPR2_uc009zjg.1_Silent_p.L447L	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	2296					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					ATATTGATCTGAGCATTATTG	0.383000														86			7		0	0	0.047766	0	0
COL6A3	1293	broad.mit.edu	37	2	238253016	238253016	+	Missense_Mutation	SNP	G	A	A	rs151079701	byFrequency	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:238253016G>A	uc002vwl.2	-	35	7930	c.7645C>T	c.(7645-7647)Cgg>Tgg	p.R2549W	COL6A3_uc002vwo.2_Missense_Mutation_p.R2343W|COL6A3_uc010znj.1_Missense_Mutation_p.R1942W|COL6A3_uc002vwj.2_5'Flank|COL6A3_uc002vwp.1_Missense_Mutation_p.R370W	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2549	Nonhelical region.|VWFA 11.				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)		ATGAGCTGCCGGTCTTCCTGC	0.567000														295			13		0	0	0.105934	0	0
ASIC2	40	broad.mit.edu	37	17	32483324	32483324	+	Silent	SNP	C	T	T	rs137994407	by1000genomes	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr17:32483324C>T	uc002hhu.3	-	0	502	c.228G>A	c.(226-228)gtG>gtA	p.V76V		NM_001094	NP_001085	Q16515	ACCN1_HUMAN	Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG1, mRNA.	76					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	CCACTTCGTCCACCTTAGTGA	0.577000														72			11		0	0	0.080935	0	0
NBPF10	100132406	broad.mit.edu	37	1	144828688	144828688	+	Silent	SNP	C	T	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:144828688C>T	uc009wig.1	+	21	2921	c.2727C>T	c.(2725-2727)caC>caT	p.H909H	NBPF10_uc010oxo.1_Silent_p.H836H|NBPF10_uc010oxn.1_Silent_p.H809H|NBPF10_uc021oth.1_Silent_p.H571H|NBPF10_uc021otj.1_Silent_p.H938H|NBPF10_uc021oto.1_Silent_p.H726H|NBPF10_uc021otr.1_Silent_p.H238H|NBPF10_uc021ots.1_Intron|NBPF10_uc001ekk.1_Silent_p.H482H|NBPF10_uc010oyd.1_Silent_p.H238H|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Non-coding_Transcript|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	911								p.H578H(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAACAGCACATCAGCTTCG	0.433000														396			43		0	0	0.104719	0	0
HIATL1	84641	broad.mit.edu	37	9	97207438	97207438	+	Missense_Mutation	SNP	T	A	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr9:97207438T>A	uc004aur.3	+	5	972	c.703T>A	c.(703-705)Tct>Act	p.S235T	HIATL1_uc011luh.2_Missense_Mutation_p.S170T	NM_032558	NP_115947	Q5SR56	HIAL1_HUMAN	Homo sapiens hippocampus abundant transcript-like 1 (HIATL1), mRNA.	235					transmembrane transport	integral to membrane|plasma membrane	protein binding|transporter activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				AGCTCAGATTTCTTGGAAACA	0.423000														27			17		0	0	0.146539	0	0
MDM1	56890	broad.mit.edu	37	12	68707443	68707443	+	Missense_Mutation	SNP	A	C	C			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr12:68707443A>C	uc001stz.2	-	9	1726	c.1590T>G	c.(1588-1590)gaT>gaG	p.D530E	MDM1_uc009zqv.1_Missense_Mutation_p.D250E|MDM1_uc010stc.1_Missense_Mutation_p.D495E	NM_017440	NP_059136	Q8TC05	MDM1_HUMAN	Homo sapiens Mdm1 nuclear protein homolog (mouse) (MDM1), transcript variant 1, mRNA.	530						nucleus		p.D530N(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		GAGTAGTGAGATCATGATGAG	0.413000														67			139		0	0	0.139131	0	0
HCK	3055	broad.mit.edu	37	20	30681703	30681703	+	Missense_Mutation	SNP	A	G	G			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr20:30681703A>G	uc002wxh.3	+	10	1367	c.1130A>G	c.(1129-1131)tAc>tGc	p.Y377C	HCK_uc010gdy.3_Missense_Mutation_p.Y357C|HCK_uc021wbv.1_Missense_Mutation_p.Y356C|HCK_uc002wxi.3_Missense_Mutation_p.Y355C	NM_001172133	NP_001165604	P08631	HCK_HUMAN	Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA.	377	Protein kinase.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CAGAGGAACTACATCCACCGA	0.567000														73			7		0	0	0.029380	0	0
CD300LD	100131439	broad.mit.edu	37	17	72584875	72584875	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr17:72584875G>A	uc002jkz.2	-	1	183	c.154C>T	c.(154-156)Cgg>Tgg	p.R52W	C17orf77_uc002jla.1_Intron	NM_001115152	NP_001108624	Q6UXZ3	CLM4_HUMAN	Homo sapiens CD300 molecule-like family member d (CD300LD), mRNA.	52	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			large_intestine(1)|lung(2)|prostate(1)|stomach(1)	5						CCTTGACACCGCCACTTCAAG	0.473000														128			30		0	0	0.144211	0	0
FCN1	2219	broad.mit.edu	37	9	137809657	137809657	+	Missense_Mutation	SNP	G	T	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr9:137809657G>T	uc004cfi.3	-	0	150	c.61C>A	c.(61-63)Cat>Aat	p.H21N		NM_002003	NP_001994	O00602	FCN1_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing) 1 (FCN1), mRNA.	21					opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		TTCTTGATATGCAGGAACAAG	0.572000														83			16		1.15088e-07	1.24465e-07	0.146539	1	0
PLXNB1	5364	broad.mit.edu	37	3	48452387	48452387	+	Missense_Mutation	SNP	A	C	C			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr3:48452387A>C	uc003csw.2	-	28	5576	c.5306T>G	c.(5305-5307)gTg>gGg	p.V1769G	PLXNB1_uc003cst.2_Missense_Mutation_p.V219G|PLXNB1_uc003csu.2_Missense_Mutation_p.V1586G|PLXNB1_uc003csx.2_Missense_Mutation_p.V1769G	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	1769					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TAGGACCTTCACGGGCACGCC	0.597000														34			5		0	0	0.014758	0	0
ZFYVE1	53349	broad.mit.edu	37	14	73459982	73459982	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr14:73459982G>A	uc001xnm.3	-	3	1793	c.1072C>T	c.(1072-1074)Cac>Tac	p.H358Y	ZFYVE1_uc010arj.3_Missense_Mutation_p.H358Y	NM_021260	NP_067083	Q9HBF4	ZFYV1_HUMAN	Homo sapiens zinc finger, FYVE domain containing 1 (ZFYVE1), transcript variant 1, mRNA.	358						Golgi stack|endoplasmic reticulum|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		CCCTTGTAGTGAATGGAACTA	0.537000														58			32		0	0	0.153744	0	0
DNMT3A	1788	broad.mit.edu	37	2	25467064	25467064	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:25467064C>T	uc002rgc.3	-	14	2068	c.1811G>A	c.(1810-1812)cGg>cAg	p.R604Q	DNMT3A_uc002rgd.3_Missense_Mutation_p.R604Q|DNMT3A_uc010eyi.3_Non-coding_Transcript|DNMT3A_uc002rgb.3_Missense_Mutation_p.R415Q	NM_022552	NP_783328	Q9Y6K1	DNM3A_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 alpha (DNMT3A), transcript variant 3, mRNA.	604	ADD.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATCTGGAGCCGGGAGGGCCA	0.632000			"""Mis, F, N, S"""		AML									43			6		0	0	0.038147	0	0
CXorf66	347487	broad.mit.edu	37	X	139038807	139038807	+	Missense_Mutation	SNP	T	A	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chrX:139038807T>A	uc004fbb.3	-	2	356	c.334A>T	c.(334-336)Atg>Ttg	p.M112L		NM_001013403	NP_001013421	Q5JRM2	CX066_HUMAN	Homo sapiens chromosome X open reading frame 66 (CXorf66), mRNA.	112	Ser-rich.					integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						GTAGATAGCATGGGTTGTGTT	0.433000														59			115		0	0	0.139131	0	0
CCR10	2826	broad.mit.edu	37	17	40831612	40831612	+	Missense_Mutation	SNP	A	C	C			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr17:40831612A>C	uc002iax.4	-	1	1052	c.1048T>G	c.(1048-1050)Tca>Gca	p.S350A	PLEKHH3_uc002iau.2_5'Flank|PLEKHH3_uc002iav.2_5'Flank|PLEKHH3_uc002iaw.2_5'Flank	NM_016602	NP_057686	P46092	CCR10_HUMAN	Homo sapiens chemokine (C-C motif) receptor 10 (CCR10), mRNA.	350						integral to plasma membrane				lung(1)|ovary(1)|skin(1)	3		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GTGGGAGCTGAGCAGGAAGAA	0.697000														36			8		0	0	0.038147	0	0
CRYBB1	1414	broad.mit.edu	37	22	27008041	27008041	+	Silent	SNP	C	T	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr22:27008041C>T	uc003acy.1	-	2	364	c.294G>A	c.(292-294)gcG>gcA	p.A98A		NM_001887	NP_001878	P53674	CRBB1_HUMAN	Homo sapiens crystallin, beta B1 (CRYBB1), mRNA.	98	Beta/gamma crystallin 'Greek key' 1.				visual perception		structural constituent of eye lens	p.A98V(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						CTCACGGTCCCGCGGAGACAA	0.582000														87			12		0	0	0.105934	0	0
SVEP1	79987	broad.mit.edu	37	9	113166766	113166766	+	Missense_Mutation	SNP	C	G	G			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr9:113166766C>G	uc010mtz.3	-	38	9844	c.9507G>C	c.(9505-9507)tgG>tgC	p.W3169C	SVEP1_uc010mty.3_Missense_Mutation_p.W1095C	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	3169	Sushi 29.				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						TCTCAGGGAACCAGCGACCAT	0.418000														247			130		0	0	0.139131	0	0
CCDC76	54482	broad.mit.edu	37	1	100613486	100613486	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:100613486C>T	uc001dsv.3	+	9	873	c.854C>T	c.(853-855)gCc>gTc	p.A285V	CCDC76_uc010ouf.2_Intron|CCDC76_uc009wea.3_Intron	NM_019083	NP_061956	Q9NUP7	TRM13_HUMAN	Homo sapiens coiled-coil domain containing 76 (CCDC76), mRNA.	285					tRNA processing		metal ion binding|methyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)	21		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0814)|all cancers(265;0.133)|COAD - Colon adenocarcinoma(174;0.146)|Lung(183;0.194)		ACCTATGCTGCCAGTTTTGAG	0.348000														65			10		0	0	0.069234	0	0
HCG27	253018	broad.mit.edu	37	6	31170608	31170608	+	RNA	SNP	C	T	T	rs9263872	byFrequency	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr6:31170608C>T	uc011dni.2	+	1		c.583C>T								Homo sapiens HLA complex group 27 (non-protein coding) (HCG27), non-coding RNA.																		TCCTTCCTGCCGCACCTTCTG	0.522000														125			7		0	0	0.038147	0	0
RGS22	26166	broad.mit.edu	37	8	101052308	101052308	+	Missense_Mutation	SNP	G	T	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr8:101052308G>T	uc003yjb.1	-	12	2141	c.1946C>A	c.(1945-1947)aCc>aAc	p.T649N	RGS22_uc003yja.1_Missense_Mutation_p.T468N|RGS22_uc003yjc.1_Missense_Mutation_p.T637N|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc010mbo.1_Non-coding_Transcript|RGS22_uc022azh.1_Missense_Mutation_p.T553N|RGS22_uc022azf.1_Missense_Mutation_p.T38N	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	649					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			ATCTGACACGGTTTTAACCTA	0.348000														29			30		2.85442e-18	3.23058e-18	0.153744	1	0
C14orf101	54916	broad.mit.edu	37	14	57085396	57085396	+	Nonsense_Mutation	SNP	C	T	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr14:57085396C>T	uc001xcm.3	+	9	1263	c.1141C>T	c.(1141-1143)Cga>Tga	p.R381*	C14orf101_uc001xcj.3_Non-coding_Transcript|C14orf101_uc001xcl.1_Non-coding_Transcript|C14orf101_uc001xcn.3_Non-coding_Transcript|C14orf101_uc010trf.2_5'UTR|C14orf101_uc001xco.3_5'UTR	NM_017799	NP_060269	Q9NX78	CN101_HUMAN	Homo sapiens chromosome 14 open reading frame 101 (C14orf101), mRNA.	381						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(311;0.226)		TGAGACTAACCGAGTGCTGAA	0.443000														103			16		0	0	0.146539	0	0
PLD3	23646	broad.mit.edu	37	19	40883778	40883778	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:40883778G>A	uc002onm.4	+	11	1669	c.1271G>A	c.(1270-1272)cGc>cAc	p.R424H	PLD3_uc002onj.4_Missense_Mutation_p.R424H|PLD3_uc002onn.3_Missense_Mutation_p.R424H	NM_001031696	NP_036400	Q8IV08	PLD3_HUMAN	Homo sapiens phospholipase D family, member 3 (PLD3), transcript variant 1, mRNA.	424	PLD phosphodiesterase 2.				lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			GTGACTGAACGCGCCACCTAC	0.612000														52			15		0	0	0.132662	0	0
SPAG17	200162	broad.mit.edu	37	1	118539013	118539013	+	Missense_Mutation	SNP	T	C	C			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:118539013T>C	uc001ehk.2	-	33	5101	c.5033A>G	c.(5032-5034)gAg>gGg	p.E1678G	SPAG17_uc021osr.1_Missense_Mutation_p.E188G	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1678						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTGCACTGGCTCTTGGAGAAC	0.428000														73			34		0	0	0.153744	0	0
MYO15A	51168	broad.mit.edu	37	17	18025706	18025706	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr17:18025706C>T	uc021trm.1	+	0	3811	c.3592C>T	c.(3592-3594)Cca>Tca	p.P1198S	MYO15A_uc021trl.1_Missense_Mutation_p.P1198S	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	1198	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin 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)					GGTCGGCCCGCCAAGCTGGCG	0.637000														47			13		0	0	0.093190	0	0
EXD1	161829	broad.mit.edu	37	15	41501725	41501725	+	Missense_Mutation	SNP	G	A	A	rs144824409		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr15:41501725G>A	uc010ucv.2	-	6	780	c.508C>T	c.(508-510)Cgc>Tgc	p.R170C	EXD1_uc001znk.3_Missense_Mutation_p.R112C	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 1 (EXD1), mRNA.	112					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						TTGCCATGGCGACATACATTC	0.383000														18			22		0	0	0.076483	0	0
OTOP3	347741	broad.mit.edu	37	17	72943312	72943312	+	Silent	SNP	G	A	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr17:72943312G>A	uc010wrr.2	+	5	1362	c.1362G>A	c.(1360-1362)tcG>tcA	p.S454S	OTOP3_uc010wrq.2_Silent_p.S436S	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	Homo sapiens otopetrin 3 (OTOP3), mRNA.	454						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					TGGCCTACTCGCTGCTGCTCA	0.627000														27			13		0	0	0.105934	0	0
ZBTB7A	51341	broad.mit.edu	37	19	4048140	4048140	+	Missense_Mutation	SNP	G	C	C			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:4048140G>C	uc002lzh.3	-	2	1440	c.1365C>G	c.(1363-1365)aaC>aaG	p.N455K	ZBTB7A_uc002lzi.3_Missense_Mutation_p.N455K	NM_015898	NP_056982	O95365	ZBT7A_HUMAN	Homo sapiens zinc finger and BTB domain containing 7A (ZBTB7A), mRNA.	455					cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCGCATGTGGTTCTTCAGGT	0.627000														58			18		0	0	0.055883	0	0
KBTBD12	166348	broad.mit.edu	37	3	127642283	127642283	+	Missense_Mutation	SNP	C	A	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr3:127642283C>A	uc010hsr.3	+	0	382	c.379C>A	c.(379-381)Cac>Aac	p.H127N	KBTBD12_uc003ejy.4_Intron|KBTBD12_uc010hsq.3_Intron|KBTBD12_uc003eka.4_5'UTR|KBTBD12_uc003ejz.2_Missense_Mutation_p.H127N	NM_207335	NP_997218	Q3ZCT8	KBTBC_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 12 (KBTBD12), mRNA.	127										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						TATGATGGACCACATGGATGC	0.363000														41			11		1.58986e-06	1.66993e-06	0.069234	1	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19415783	19415783	+	RNA	SNP	G	A	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr13:19415783G>A	uc010tcj.1	-	0		c.30327C>T								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		AGCAGCAGAAGATGTACTATG	0.308000														48			5		0	0	0.029380	0	0
IGF2BP3	10643	broad.mit.edu	37	7	23352422	23352422	+	Missense_Mutation	SNP	G	A	A	rs78711689		TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr7:23352422G>A	uc003swg.3	-	13	1839	c.1573C>T	c.(1573-1575)Cgt>Tgt	p.R525C	IGF2BP3_uc003swf.3_Missense_Mutation_p.R144C	NM_006547	NP_006538	O00425	IF2B3_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 3 (IGF2BP3), mRNA.	525	KH 4.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	p.R525C(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						GTCTGGTCACGAGGGACAACA	0.388000														84			5		0	0	0.014758	0	0
ZNF707	286075	broad.mit.edu	37	8	144776010	144776010	+	Silent	SNP	C	T	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr8:144776010C>T	uc003yze.4	+	6	741	c.426C>T	c.(424-426)gaC>gaT	p.D142D	ZNF707_uc010mfh.3_Silent_p.D142D|ZNF707_uc010mfi.3_Silent_p.D142D|ZNF707_uc003yzf.4_Silent_p.D142D|ZNF707_uc003yzh.4_Silent_p.D69D|ZNF707_uc011lkq.1_Non-coding_Transcript	NM_173831	NP_776192	Q96C28	ZN707_HUMAN	Homo sapiens zinc finger protein 707 (ZNF707), transcript variant 1, mRNA.	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)	1	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;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AAAGGACAGACGCCAAGCCCA	0.647000														62			13		0	0	0.093190	0	0
FRYL	285527	broad.mit.edu	37	4	48548200	48548200	+	Silent	SNP	G	A	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr4:48548200G>A	uc003gyh.1	-	41	5768	c.5163C>T	c.(5161-5163)agC>agT	p.S1721S	FRYL_uc003gyg.1_Silent_p.S417S|FRYL_uc003gyi.1_Silent_p.S609S|FRYL_uc003gyj.1_Silent_p.S16S	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	1721					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TATTTCCTAAGCTGATACTAG	0.448000														32			29		0	0	0.108266	0	0
DENND1A	57706	broad.mit.edu	37	9	126165765	126165765	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr9:126165765C>T	uc011lzm.1	-	17	1611	c.1397G>A	c.(1396-1398)cGc>cAc	p.R466H	DENND1A_uc011lzl.1_Missense_Mutation_p.R273H|DENND1A_uc004bny.1_Missense_Mutation_p.R237H|DENND1A_uc004bnz.1_Missense_Mutation_p.R498H|DENND1A_uc004boa.1_Missense_Mutation_p.R498H|DENND1A_uc004bob.1_Missense_Mutation_p.R468H|DENND1A_uc010mwh.1_5'UTR|MIR601_uc022bnd.1_5'Flank	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	Homo sapiens DENN/MADD domain containing 1A (DENND1A), transcript variant 1, mRNA.	498						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						ACGAGGTGGGCGCACCTAGAG	0.542000														26			4		0	0	0.014758	0	0
USP10	9100	broad.mit.edu	37	16	84797846	84797846	+	Silent	SNP	C	T	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr16:84797846C>T	uc010voe.2	+	10	2072	c.1821C>T	c.(1819-1821)acC>acT	p.T607T	USP10_uc002fii.3_Silent_p.T603T|USP10_uc010vof.2_Silent_p.T165T|USP10_uc002fij.3_Silent_p.T129T	NM_005153	NP_005144	Q14694	UBP10_HUMAN	Homo sapiens ubiquitin specific peptidase 10 (USP10), mRNA.	603					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						CTCCAATCACCGGCATTTTTG	0.488000														68			45		0	0	0.131918	0	0
PEG3	5178	broad.mit.edu	37	19	57327021	57327021	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:57327021C>T	uc002qnu.2	-	6	3140	c.2789G>A	c.(2788-2790)cGt>cAt	p.R930H	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.R901H|PEG3_uc002qnv.2_Missense_Mutation_p.R930H|PEG3_uc002qnw.2_Missense_Mutation_p.R806H|PEG3_uc002qnx.2_Missense_Mutation_p.R804H|PEG3_uc010etr.2_Missense_Mutation_p.R930H	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	930					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)		CTGGTATTCACGGACATTTGA	0.448000														149			72		0	0	0.139131	0	0
HBE1	3046	broad.mit.edu	37	11	5290746	5290746	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr11:5290746C>T	uc001mal.1	-	1	519	c.253G>A	c.(253-255)Gcc>Acc	p.A85T	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Missense_Mutation_p.A85T	NM_005330	NP_005321	P02100	HBE_HUMAN	Homo sapiens hemoglobin, epsilon 1 (HBE1), mRNA.	85					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	p.A85S(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTAGCAAAGGCGGGCTTGAGG	0.502000														93			55		0	0	0.139131	0	0
FBXL13	222235	broad.mit.edu	37	7	102518012	102518012	+	Nonsense_Mutation	SNP	G	A	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr7:102518012G>A	uc003vaq.2	-	15	1964	c.1537C>T	c.(1537-1539)Cga>Tga	p.R513*	FBXL13_uc010liq.1_Intron|FBXL13_uc010lir.1_Nonsense_Mutation_p.R513*|FBXL13_uc003var.2_Non-coding_Transcript|FBXL13_uc003vas.2_Nonsense_Mutation_p.R513*	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 13 (FBXL13), transcript variant 1, mRNA.	513								p.R513*(4)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TCACAATTTCGTAAACTCAAG	0.323000														140			28		0	0	0.108266	0	0
TMEM108	66000	broad.mit.edu	37	3	133099106	133099106	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr3:133099106C>T	uc003epi.3	+	3	821	c.551C>T	c.(550-552)cCg>cTg	p.P184L	TMEM108_uc003eph.3_Missense_Mutation_p.P184L|TMEM108_uc003epj.1_Missense_Mutation_p.P184L|TMEM108_uc003epk.3_Intron	NM_001136469	NP_076432	Q6UXF1	TM108_HUMAN	Homo sapiens transmembrane protein 108 (TMEM108), transcript variant 2, mRNA.	184	Pro-rich.					integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CGCCCTGTCCCGCCTGCACCT	0.647000														37			27		0	0	0.099896	0	0
ASPRV1	151516	broad.mit.edu	37	2	70188473	70188473	+	Nonsense_Mutation	SNP	C	T	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:70188473C>T	uc002sfz.4	-	0	925	c.348G>A	c.(346-348)tgG>tgA	p.W116*		NM_152792	NP_690005	Q53RT3	APRV1_HUMAN	Homo sapiens aspartic peptidase, retroviral-like 1 (ASPRV1), mRNA.	116					protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						AGCTGTGCAGCCAGAGGTTTG	0.582000														38			35		0	0	0.163468	0	0
MYO3B	140469	broad.mit.edu	37	2	171242714	171242714	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:171242714G>A	uc002ufy.3	+	12	1449	c.1306G>A	c.(1306-1308)Gga>Aga	p.G436R	MYO3B_uc002ufv.3_Missense_Mutation_p.G423R|MYO3B_uc010fqb.1_Missense_Mutation_p.G436R|MYO3B_uc002ufz.3_Missense_Mutation_p.G436R|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002ugb.3_Non-coding_Transcript	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	436	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TGTCATCAGCGGAGAGAGTGG	0.448000														20			23		0	0	0.083992	0	0
TREX1	11277	broad.mit.edu	37	3	48508064	48508064	+	Nonsense_Mutation	SNP	C	T	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr3:48508064C>T	uc003ctj.3	+	1	1432	c.175C>T	c.(175-177)Cag>Tag	p.Q59*	TREX1_uc010hjy.3_Nonsense_Mutation_p.Q4*|TREX1_uc010hjz.3_Nonsense_Mutation_p.Q4*|TREX1_uc003ctk.3_Intron|TREX1_uc010hka.3_Nonsense_Mutation_p.Q59*	NM_033629	NP_338599	Q9NSU2	TREX1_HUMAN	Homo sapiens three prime repair exonuclease 1 (TREX1), transcript variant 4, mRNA.	59					DNA recombination|DNA replication|cell death|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|MutLalpha complex binding|MutSalpha complex binding|exodeoxyribonuclease III activity|metal ion binding|protein homodimerization activity|single-stranded DNA binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CATGGGCTCGCAGGCCCTGCC	0.637000														217			46		0	0	0.124865	0	0
TOP2A	7153	broad.mit.edu	37	17	38555132	38555132	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr17:38555132C>T	uc002huq.3	-	25	3505	c.3346G>A	c.(3346-3348)Gac>Aac	p.D1116N	RARA_uc021txb.1_Intron	NM_001067	NP_001058	P11388	TOP2A_HUMAN	Homo sapiens topoisomerase (DNA) II alpha 170kDa (TOP2A), mRNA.	1116					DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|apoptotic chromosome condensation|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	DNA topoisomerase complex (ATP-hydrolyzing)|cytoplasm|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	GTTACGGAGTCACTCTTTTCA	0.353000														26			27		0	0	0.091800	0	0
DNAJB7	150353	broad.mit.edu	37	22	41257516	41257516	+	Silent	SNP	A	G	G			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr22:41257516A>G	uc003azj.3	-	0	615	c.483T>C	c.(481-483)ggT>ggC	p.G161G	XPNPEP3_uc011aox.2_Intron|XPNPEP3_uc003azh.3_Intron|XPNPEP3_uc003azi.3_Intron|XPNPEP3_uc011aoy.1_5'Flank|XPNPEP3_uc003azf.2_Intron|XPNPEP3_uc003azg.2_Intron|XPNPEP3_uc010gyh.1_5'Flank	NM_145174	NP_660157	Q7Z6W7	DNJB7_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 7 (DNAJB7), mRNA.	161					protein folding		heat shock protein binding|unfolded protein binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						GCCCCAATGAACCCTGTGATG	0.378000														160			36		0	0	0.183431	0	0
GPR125	166647	broad.mit.edu	37	4	22456513	22456513	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr4:22456513C>T	uc003gqm.1	-	3	714	c.449G>A	c.(448-450)cGa>cAa	p.R150Q	GPR125_uc010ieo.1_Missense_Mutation_p.R24Q|GPR125_uc003gqo.3_Missense_Mutation_p.R150Q	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	Homo sapiens G protein-coupled receptor 125 (GPR125), mRNA.	150					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				GGTGAGTCCTCGAAATATGTC	0.378000														78			44		0	0	0.111260	0	0
DNAAF2	55172	broad.mit.edu	37	14	50100984	50100984	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr14:50100984G>A	uc001wws.4	-	0	965	c.884C>T	c.(883-885)gCc>gTc	p.A295V	NEMF_uc010anj.1_Intron|DNAAF2_uc001wwt.4_Missense_Mutation_p.A295V	NM_018139	NP_060609	Q9NVR5	KTU_HUMAN	Homo sapiens dynein, axonemal, assembly factor 2 (DNAAF2), transcript variant 1, mRNA.	295					axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm				kidney(1)|lung(4)	5						CGCCTGCTCGGCCGAGCGCAA	0.652000														30			9		0	0	0.047766	0	0
XIRP2	129446	broad.mit.edu	37	2	167760152	167760152	+	Missense_Mutation	SNP	C	G	G			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:167760152C>G	uc002udx.3	+	1	249	c.160C>G	c.(160-162)Cct>Gct	p.P54A	XIRP2_uc010fpn.3_Missense_Mutation_p.P54A|XIRP2_uc010fpo.3_Missense_Mutation_p.P54A	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	0					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						AGTATCAGCACCTCAATCTTT	0.483000														45			43		0	0	0.111260	0	0
COQ6	51004	broad.mit.edu	37	14	74424980	74424980	+	Splice_Site	SNP	G	T	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr14:74424980G>T	uc001xph.3	+	5	693	c.612_splice	c.e5+1	p.L204_splice	ENTPD5_uc001xpi.3_3'UTR|COQ6_uc001xpe.3_Splice_Site_p.L129_splice|COQ6_uc010tuk.2_Splice_Site_p.L179_splice|COQ6_uc010tum.2_Missense_Mutation_p.L204F|COQ6_uc010tul.2_Missense_Mutation_p.L149F|COQ6_uc010tun.2_Splice_Site_p.L149_splice|COQ6_uc021rwk.1_Splice_Site_p.L129_splice	NM_182476	NP_872282	Q9Y2Z9	COQ6_HUMAN	Homo sapiens coenzyme Q6 homolog, monooxygenase (S. cerevisiae) (COQ6), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	204					ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		CCAAATTGTTGGTAGTTGAAG	0.418000														78			8		0.000157383	0.000162964	0.038147	1	0
PPP1R3C	5507	broad.mit.edu	37	10	93389816	93389816	+	Silent	SNP	G	A	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr10:93389816G>A	uc001kho.3	-	1	954	c.822C>T	c.(820-822)gaC>gaT	p.D274D		NM_005398	NP_005389	Q9UQK1	PPR3C_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3C (PPP1R3C), mRNA.	274							protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				GGAATGCACAGTCCTGGGGTG	0.507000														75			23		0	0	0.069288	0	0
LOC392232	392232	broad.mit.edu	37	8	73150355	73150355	+	RNA	SNP	T	C	C			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr8:73150355T>C	uc022avu.1	-	5		c.817A>G								Homo sapiens transient receptor potential cation channel, subfamily A, member 1 pseudogene (LOC392232), non-coding RNA.																		GTCACCATTTTGCACAGCCAG	0.423000														52			17		0	0	0.043863	0	0
ATG10	83734	broad.mit.edu	37	5	81283497	81283497	+	Splice_Site	SNP	G	C	C			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr5:81283497G>C	uc003khs.3	+	3	537	c.108_splice	c.e3+1	p.K36_splice	ATG10_uc003khq.2_Splice_Site_p.K36_splice|ATG10_uc003khr.3_Splice_Site_p.K36_splice|ATG10_uc010jas.3_Splice_Site_p.K36_splice|ATG10_uc003kht.1_Non-coding_Transcript	NM_001131028	NP_113670	Q9H0Y0	ATG10_HUMAN	Homo sapiens ATG10 autophagy related 10 homolog (S. cerevisiae) (ATG10), transcript variant 3, mRNA.	36					autophagy in response to ER overload|positive regulation of protein modification process|protein lipidation|protein modification by small protein conjugation|protein transport	cytoplasm	Atg12 ligase activity|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(2)	9		Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30)		GACCATCAAAGGTAAGAATGG	0.328000														85			30		0	0	0.144211	0	0
BPTF	2186	broad.mit.edu	37	17	65941849	65941849	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr17:65941849G>A	uc002jgf.3	+	20	7086	c.7025G>A	c.(7024-7026)cGt>cAt	p.R2342H	BPTF_uc002jge.3_Missense_Mutation_p.R2468H|BPTF_uc021uca.1_Missense_Mutation_p.R142H|BPTF_uc002jgg.3_Missense_Mutation_p.R142H|BPTF_uc002jgh.3_5'Flank	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	2468	Thr-rich.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TCTCCTGTTCGTGTCCAAAGT	0.512000														79			27		0	0	0.099896	0	0
OR8B8	26493	broad.mit.edu	37	11	124310146	124310146	+	Missense_Mutation	SNP	G	T	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr11:124310146G>T	uc010sal.2	-	0	836	c.836C>A	c.(835-837)aCc>aAc	p.T279N		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 8 (OR8B8), mRNA.	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y278F(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CACCACAGTGGTATAGAATAG	0.413000														65			8		5.4927e-09	6.02958e-09	0.047766	1	0
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr15:102515299G>A	uc002cdi.3	+	8	1943	c.523G>A	c.(523-525)Ggc>Agc	p.G175S	WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.									p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652000														8			3		0	0	0.150653	0	0
TBC1D17	79735	broad.mit.edu	37	19	50390732	50390732	+	Splice_Site	SNP	G	T	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:50390732G>T	uc002pqo.3	+	14	1744	c.1445_splice	c.e14-1	p.D482_splice	TBC1D17_uc010ybg.2_Splice_Site_p.D449_splice|TBC1D17_uc002pqp.3_Splice_Site_p.D133_splice|TBC1D17_uc002pqr.3_Splice_Site_p.D133_splice|IL4I1_uc002pqt.1_3'UTR|IL4I1_uc021uxy.1_3'UTR|IL4I1_uc002pqu.2_3'UTR|IL4I1_uc010eno.2_3'UTR|IL4I1_uc002pqv.2_3'UTR|MIR4750_uc021uxz.1_5'Flank	NM_024682	NP_078958	Q9HA65	TBC17_HUMAN	Homo sapiens TBC1 domain family, member 17 (TBC1D17), transcript variant 1, mRNA.	482	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		TCATCCCCCAGATTCCCAGGA	0.577000														28			13		2.27111e-07	2.4381e-07	0.093190	1	0
ZNF611	81856	broad.mit.edu	37	19	53209243	53209243	+	Silent	SNP	T	C	C			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:53209243T>C	uc002pzz.3	-	6	1382	c.1065A>G	c.(1063-1065)caA>caG	p.Q355Q	ZNF611_uc010eqc.3_Silent_p.Q285Q|ZNF611_uc010ydo.2_Silent_p.Q285Q|ZNF611_uc010ydp.2_Silent_p.Q355Q|ZNF611_uc010ydq.2_Silent_p.Q355Q|ZNF611_uc010ydr.2_Silent_p.Q286Q|ZNF611_uc002qaa.4_Silent_p.Q285Q|ZNF611_uc021uyy.1_Silent_p.Q286Q	NM_030972	NP_001154973	Q8N823	ZN611_HUMAN	Homo sapiens zinc finger protein 611 (ZNF611), transcript variant 1, mRNA.	355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		AAAGTTGTGATTGTTGATTAA	0.343000														127			84		0	0	0.139131	0	0
RBM15	64783	broad.mit.edu	37	1	110883874	110883874	+	Missense_Mutation	SNP	G	T	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:110883874G>T	uc001dzl.1	+	0	1930	c.1847G>T	c.(1846-1848)cGc>cTc	p.R616L	RBM15_uc001dzm.1_Missense_Mutation_p.R616L|LOC440600_uc001dzj.3_5'Flank|RBM15_uc021orn.1_Missense_Mutation_p.R616L	NM_022768	NP_073605	Q96T37	RBM15_HUMAN	Homo sapiens RNA binding motif protein 15 (RBM15), transcript variant 1, mRNA.	616	Arg-rich.				interspecies interaction between organisms	nucleus	RNA binding|nucleotide binding|protein binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGCCTAGATCGCAGGCGGGAT	0.612000			T	MKL1	acute megakaryocytic leukemia									32			14		7.93312e-07	8.45427e-07	0.119110	1	0
TUBGCP6	85378	broad.mit.edu	37	22	50657234	50657234	+	Silent	SNP	G	A	A			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr22:50657234G>A	uc003bkb.1	-	20	5231	c.4719C>T	c.(4717-4719)gaC>gaT	p.D1573D	TUBGCP6_uc003bka.1_Silent_p.D660D|TUBGCP6_uc010har.1_Silent_p.D1565D|TUBGCP6_uc010has.1_Non-coding_Transcript	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	Homo sapiens tubulin, gamma complex associated protein 6 (TUBGCP6), mRNA.	1573					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CGTGCGGGGTGTCCCCATGCA	0.647000														57			23		0	0	0.076483	0	0
SDHAP2	727956	broad.mit.edu	37	3	195400728	195400728	+	Silent	SNP	A	G	G	rs12107841	by1000genomes	TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr3:195400728A>G	uc003fuw.3	+	8	1218	c.24A>G	c.(22-24)ccA>ccG	p.P8P	SDHAP2_uc011btb.1_Missense_Mutation_p.S156G|SDHAP2_uc011btc.1_Non-coding_Transcript|SDHAP2_uc003fuv.3_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA.																		GATTGTGCCCAGCCTGTACGC	0.587000														36			5		0	0	0.021553	0	0
RANBP2	5903	broad.mit.edu	37	2	109380688	109380688	+	Silent	SNP	C	T	T			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr2:109380688C>T	uc002tem.4	+	19	3819	c.3693C>T	c.(3691-3693)cgC>cgT	p.R1231R		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	1231	RanBD1 1.				carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding	p.R1231C(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GTAAAATTCGCCTTCTAATGA	0.378000														113			22		0	0	0.055883	0	0
DNAJC11	55735	broad.mit.edu	37	1	6727803	6727804	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:6727803_6727804delTC	uc001aof.2	-	3	449_450	c.343_344delGA	c.(343-345)gaafs	p.E115fs	DNAJC11_uc001aog.2_Frame_Shift_Del_p.E115fs|DNAJC11_uc010nzu.1_Frame_Shift_Del_p.E25fs	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 11 (DNAJC11), mRNA.	115					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCCTCTCTTCTCTCTCTCTC	0.505													---	57	---	---	8	---					
TMCO2	127391	broad.mit.edu	37	1	40713708	40713709	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:40713708_40713709delTC	uc001cfe.2	+	0	136_137	c.43_44delTC	c.(43-45)tctfs	p.S15fs		NM_001008740	NP_001008740	Q7Z6W1	TMCO2_HUMAN	Homo sapiens transmembrane and coiled-coil domains 2 (TMCO2), mRNA.	15						integral to membrane				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			CCTCTTAGAGTCTCTCTCTCTC	0.406													---	688	---	---	9	---					
OR2T2	401992	broad.mit.edu	37	1	248616705	248616711	+	Frame_Shift_Del	DEL	TGCTGCG	-	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr1:248616705_248616711delTGCTGCG	uc001iek.1	+	0	607_613	c.607_613delTGCTGCG	c.(607-615)tgctgcgtgfs	p.C203fs		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA.	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATGTATGCCTGCTGCGTGCTGATGCT	0.527													---	65	---	---	18	---					
MYO10	4651	broad.mit.edu	37	5	16676227	16676227	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr5:16676227delA	uc003jft.4	-	33	5047	c.4579delT	c.(4579-4581)tacfs	p.Y1527fs	MYO10_uc011cnb.2_Frame_Shift_Del_p.Y156fs|MYO10_uc011cnc.2_Frame_Shift_Del_p.Y406fs|MYO10_uc011cnd.2_Frame_Shift_Del_p.Y884fs|MYO10_uc011cne.2_Frame_Shift_Del_p.Y884fs|MYO10_uc010itx.3_Frame_Shift_Del_p.Y1149fs	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	1527					axon guidance|signal transduction	myosin complex	ATP binding|actin binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TTCCGCTTGTAAATCTGTTCC	0.448													---	78	---	---	40	---					
RAD23B	5887	broad.mit.edu	37	9	110064366	110064366	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr9:110064366delA	uc004bde.3	+	2	593	c.199delA	c.(199-201)aaafs	p.K67fs	RAD23B_uc011lwa.2_Frame_Shift_Del_p.K67fs|RAD23B_uc022blj.1_5'UTR|RAD23B_uc011lwb.2_Frame_Shift_Del_p.K46fs	NM_002874	NP_002865	P54727	RD23B_HUMAN	Homo sapiens RAD23 homolog B (S. cerevisiae) (RAD23B), transcript variant 1, mRNA.	67	Ubiquitin-like.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	XPC complex|cytoplasm|nucleoplasm|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AATTGATGAGAAAAACTTTGT	0.303								Direct reversal of damage;Nucleotide excision repair (NER)					---	138	---	---	27	---					
LILRB1	10859	broad.mit.edu	37	19	55146148	55146150	+	In_Frame_Del	DEL	CTC	-	-			TCGA-HZ-7289-01A-11D-2154-08	TCGA-HZ-7289-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc10de4-de39-4008-a5da-02048d186ed9	0a84f7bc-d034-4c50-bb0b-59a05ab1037b	g.chr19:55146148_55146150delCTC	uc002qgj.3	+	10	1757_1759	c.1417_1419delCTC	c.(1417-1419)ctcdel	p.L479del	LILRB1_uc010erp.1_In_Frame_Del_p.L94del|LILRB1_uc002qgl.3_In_Frame_Del_p.L479del|LILRB1_uc002qgk.3_In_Frame_Del_p.L480del|LILRB1_uc002qgm.3_In_Frame_Del_p.L480del|LILRB1_uc010erq.3_In_Frame_Del_p.L463del|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	479					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.L479del(1)|p.L478L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CAtcctactgctcctcctcctcc	0.581										HNSCC(37;0.09)			---	126	---	---	7	---					
