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
CHML	1122	broad.mit.edu	37	1	241799053	241799053	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:241799053G>A	uc001hzd.3	-	0	180	c.16C>T	c.(16-18)Ccc>Tcc	p.P6S	OPN3_uc001hza.3_Intron|OPN3_uc001hzb.3_Intron|OPN3_uc001hzc.3_Intron	NM_001821	NP_001812	P26374	RAE2_HUMAN	Homo sapiens choroideremia-like (Rab escort protein 2) (CHML), mRNA.	6					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			AACTCTGTGGGAAGATTGTCC	0.433000														190			12		0	0	0.080935	0	0
GJB4	127534	broad.mit.edu	37	1	35227279	35227279	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:35227279G>A	uc001bxw.4	+	0	424	c.424G>A	c.(424-426)Gat>Aat	p.D142N	GJB4_uc001bxv.1_Missense_Mutation_p.D142N	NM_153212	NP_694944	Q9NTQ9	CXB4_HUMAN	Homo sapiens gap junction protein, beta 4, 30.3kDa (GJB4), mRNA.	142					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GGCCGCCGTGGATGCTGGCTT	0.612000														103			14		0	0	0.175082	0	0
TP53	7157	broad.mit.edu	37	17	7578526	7578526	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:7578526C>T	uc002gim.2	-	4	598	c.404G>A	c.(403-405)tGc>tAc	p.C135Y	TP53_uc002gig.1_Missense_Mutation_p.C135Y|TP53_uc002gih.3_Missense_Mutation_p.C135Y|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.C3Y|TP53_uc010cnf.1_Missense_Mutation_p.C3Y|TP53_uc002gii.1_Missense_Mutation_p.C3Y|TP53_uc010cni.1_Missense_Mutation_p.C135Y|TP53_uc010cnh.1_Missense_Mutation_p.C135Y|TP53_uc002gij.2_Missense_Mutation_p.C135Y|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.C42Y|TP53_uc002gio.2_Missense_Mutation_p.C3Y|TP53_uc010vug.2_Missense_Mutation_p.C96Y	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	135	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C135Y(113)|p.C135F(82)|p.C135W(22)|p.C135S(19)|p.F134L(17)|p.F134V(10)|p.C135R(9)|p.C135fs*35(9)|p.0?(8)|p.C135G(7)|p.C135*(7)|p.F134C(6)|p.C135C(5)|p.C135fs*9(4)|p.C42Y(4)|p.C3Y(4)|p.F134S(3)|p.C135fs*14(3)|p.F134_T140>S(2)|p.K132_A138delKMFCQLA(2)|p.S127_Q136del10(2)|p.C135T(2)|p.C135fs*15(2)|p.N131fs*27(2)|p.C135_A138delCQLA(2)|p.C3F(2)|p.C42F(2)|p.C135_T140delCQLAKT(2)|p.F134F(1)|p.V73fs*9(1)|p.C135fs*36(1)|p.Y126fs*11(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C42S(1)|p.M133fs*13(1)|p.C3S(1)|p.F134fs*14(1)|p.Q136fs*13(1)|p.F134fs*39(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCCAGTTGGCAAAACATCTT	0.572000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				76			18		0	0	0.160694	0	0
PRL	5617	broad.mit.edu	37	6	22294688	22294688	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr6:22294688C>T	uc003ndp.3	-	1	673	c.154G>A	c.(154-156)Gtc>Atc	p.V52I	PRL_uc003ndo.3_Missense_Mutation_p.V53I|PRL_uc003ndq.3_Missense_Mutation_p.V52I|PRL_uc003ndr.1_Non-coding_Transcript	NM_000948	NP_001157030	P01236	PRL_HUMAN	Homo sapiens prolactin (PRL), transcript variant 1, mRNA.	52					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					TGGGACAGGACGACGGCGCGG	0.582000														155			16		0	0	0.146539	0	0
PRR11	55771	broad.mit.edu	37	17	57270937	57270937	+	Silent	SNP	C	T	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:57270937C>T	uc002ixf.2	+	4	799	c.487C>T	c.(487-489)Ctg>Ttg	p.L163L	PRR11_uc021uar.1_Non-coding_Transcript	NM_018304	NP_060774	Q96HE9	PRR11_HUMAN	Homo sapiens proline rich 11 (PRR11), mRNA.	163										breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TGCCTGCGTTCTGATCACCCC	0.532000														254			23		0	0	0.064281	0	0
RPL23AP53	644128	broad.mit.edu	37	8	163279	163279	+	RNA	SNP	T	A	A	rs118081799	by1000genomes	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr8:163279T>A	uc010lra.3	-	3		c.854A>T			RPL23AP53_uc003woq.4_Non-coding_Transcript|RPL23AP53_uc010lrb.3_Non-coding_Transcript					Homo sapiens ribosomal protein L23a pseudogene 53 (RPL23AP53), non-coding RNA.																		CATCCAAAGCTTCATAATCAG	0.388000														128			7		0	0	0.175082	0	0
FAM154A	158297	broad.mit.edu	37	9	18941744	18941744	+	Silent	SNP	C	T	T	rs112030642		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr9:18941744C>T	uc003zni.2	-	2	662	c.312G>A	c.(310-312)acG>acA	p.T104T	FAM154A_uc010mip.2_Intron	NM_153707	NP_714918	Q8IYX7	F154A_HUMAN	Homo sapiens family with sequence similarity 154, member A (FAM154A), mRNA.	104										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		CTTTCTTATACGTCGTGAGCA	0.478000														160			45		0	0	0.131918	0	0
SLC16A10	117247	broad.mit.edu	37	6	111498424	111498424	+	Missense_Mutation	SNP	G	C	C			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr6:111498424G>C	uc003pus.3	+	2	673	c.498G>C	c.(496-498)gaG>gaC	p.E166D	SLC16A10_uc003pur.4_Missense_Mutation_p.E166D|SLC16A10_uc003put.3_5'UTR	NM_018593	NP_061063	Q8TF71	MOT10_HUMAN	Homo sapiens solute carrier family 16, member 10 (aromatic amino acid transporter) (SLC16A10), mRNA.	166					aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)		GTTCCATCGAGCCTCTGTACC	0.398000														133			8		0	0	0.047766	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823340	38823340	+	Silent	SNP	G	A	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr22:38823340G>A	uc003avs.1	-	1	895	c.798C>T	c.(796-798)gaC>gaT	p.D266D	KCNJ4_uc003avt.1_Silent_p.D266D|KCNJ4_uc021wpp.1_Silent_p.D266D	NM_004981	NP_690607	P48050	IRK4_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 4 (KCNJ4), transcript variant 2, mRNA.	266					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	PDZ domain binding|inward rectifier potassium channel activity			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					GGCTGTCCTCGTCGATCTCGT	0.607000														108			9		0	0	0.047766	0	0
FRMPD2	143162	broad.mit.edu	37	10	49457187	49457187	+	Silent	SNP	G	A	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr10:49457187G>A	uc001jgi.3	-	2	517	c.186C>T	c.(184-186)gcC>gcT	p.A62A	FRMPD2_uc001jgh.3_Silent_p.A53A|FRMPD2_uc001jgj.3_Silent_p.A53A	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	62	KIND.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CAGAAAGCAGGGCTGACCAGG	0.552000														93			19		0	0	0.062417	0	0
KCNN1	3780	broad.mit.edu	37	19	18099263	18099263	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:18099263C>T	uc002nht.3	+	6	1409	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W	KCNN1_uc010xqa.1_Missense_Mutation_p.R367W	NM_002248	NP_002239	Q92952	KCNN1_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1 (KCNN1), mRNA.	367					synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8						TGTGGTGGCTCGGAAGCTGGA	0.637000														38			11		0	0	0.093190	0	0
C15orf2	23742	broad.mit.edu	37	15	24921804	24921804	+	Missense_Mutation	SNP	G	A	A	rs138010778	byFrequency	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr15:24921804G>A	uc001ywo.3	+	0	1264	c.790G>A	c.(790-792)Gag>Aag	p.E264K		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	264					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		AGCGCCCCCTGAGCCAGCCGT	0.637000														142			22		0	0	0.055883	0	0
CKMT2	1160	broad.mit.edu	37	5	80550266	80550266	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr5:80550266G>A	uc003khc.4	+	4	645	c.403G>A	c.(403-405)Gac>Aac	p.D135N	RNU5E-1_uc011cto.1_Intron|CKMT2_uc010jaq.3_Missense_Mutation_p.D135N|CKMT2_uc003khd.4_Missense_Mutation_p.D135N|LOC100131067_uc003khe.2_Intron|LOC100131067_uc003khf.2_Intron|LOC100131067_uc003khg.2_Intron	NM_001825	NP_001816	P17540	KCRS_HUMAN	Homo sapiens creatine kinase, mitochondrial 2 (sarcomeric) (CKMT2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	135					creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	CAACGGCTATGACCCCAGGGT	0.532000														148			9		0	0	0.058154	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	91795	91795	+	RNA	SNP	G	A	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chrGL000211.1:91795G>A	uc003bnz.1	+	6		c.1151G>A			FLJ43315_uc003boa.3_Non-coding_Transcript					Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		CAATTTGTATGTTGGATAGTG	0.383000														28			4		0	0	0.047766	0	0
CLTCL1	8218	broad.mit.edu	37	22	19184149	19184149	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr22:19184149C>T	uc021wle.1	-	24	3967	c.3892G>A	c.(3892-3894)Gag>Aag	p.E1298K	CLTCL1_uc021wld.1_3'UTR|CLTCL1_uc021wlc.1_3'UTR|CLTCL1_uc021wlf.1_Missense_Mutation_p.E1298K|CLTCL1_uc011agw.1_Missense_Mutation_p.E1277K|CLTCL1_uc011agt.2_Missense_Mutation_p.E89K|CLTCL1_uc011agu.2_Missense_Mutation_p.E89K|CLTCL1_uc010grm.1_Missense_Mutation_p.E58K|CLTCL1_uc002zpd.1_Missense_Mutation_p.E205K|CLTCL1_uc002zpe.2_3'UTR	NM_007098	NP_009029	P53675	CLH2_HUMAN	Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA.	1298	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					AAGATCAGCTCCTCAAAGTAG	0.612000			T	?	ALCL									55			6		0	0	0.021553	0	0
PRR11	55771	broad.mit.edu	37	17	57271031	57271031	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:57271031C>T	uc002ixf.2	+	4	893	c.581C>T	c.(580-582)cCa>cTa	p.P194L	PRR11_uc021uar.1_Non-coding_Transcript	NM_018304	NP_060774	Q96HE9	PRR11_HUMAN	Homo sapiens proline rich 11 (PRR11), mRNA.	194	Pro-rich.									breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					ccacctctgccacctcctccA	0.522000														209			10		0	0	0.153744	0	0
RARRES3	5920	broad.mit.edu	37	11	63307030	63307030	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr11:63307030C>T	uc001nxf.4	+	1	120	c.52C>T	c.(52-54)Cgc>Tgc	p.R18C		NM_004585	NP_004576	Q9UL19	TIG3_HUMAN	Homo sapiens retinoic acid receptor responder (tazarotene induced) 3 (RARRES3), mRNA.	18					lipid catabolic process|negative regulation of cell proliferation		hydrolase activity			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						TGAGATTTTCCGCCTTGGCTA	0.483000														168			10		0	0	0.069234	0	0
PRODH2	58510	broad.mit.edu	37	19	36303115	36303115	+	Missense_Mutation	SNP	C	A	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:36303115C>A	uc002obx.1	-	3	677	c.659G>T	c.(658-660)gGc>gTc	p.G220V		NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	Homo sapiens proline dehydrogenase (oxidase) 2 (PRODH2), mRNA.	220					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity	p.R219W(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCCAGGAGGCCCCGTGACAG	0.652000														211			16		9.16793e-09	9.45443e-09	0.160694	1	0
COL4A2	1284	broad.mit.edu	37	13	111121596	111121596	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr13:111121596G>A	uc001vqx.3	+	27	2417	c.2128G>A	c.(2128-2130)Gca>Aca	p.A710T		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	710	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CCCAGGCTTCGCAGGAGCTGA	0.572000														21			5		0	0	0.014758	0	0
PCDH18	54510	broad.mit.edu	37	4	138451227	138451227	+	Silent	SNP	C	T	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr4:138451227C>T	uc003ihe.4	-	0	2403	c.2016G>A	c.(2014-2016)ctG>ctA	p.L672L	PCDH18_uc003ihf.4_Silent_p.L665L|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Silent_p.L452L|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	672	Cadherin 6.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TCATGCACTTCAGAAGGACTT	0.423000														341			30		0	0	0.125774	0	0
C12orf35	55196	broad.mit.edu	37	12	32135653	32135653	+	Silent	SNP	T	C	C			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr12:32135653T>C	uc001rks.3	+	3	2178	c.1764T>C	c.(1762-1764)ctT>ctC	p.L588L		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA.	588										NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	59	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			TCGCTTTGCTTTCACAGGCAC	0.358000														168			30		0	0	0.125774	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946407	16946407	+	RNA	SNP	T	G	G	rs10796418	by1000genomes	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:16946407T>G	uc010ocf.2	-	2		c.491A>C			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.																		AGCAATCTCCTCACTCAGCTG	0.672000														65			4		0	0	0.014758	0	0
PLD3	23646	broad.mit.edu	37	19	40882579	40882579	+	Silent	SNP	C	T	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:40882579C>T	uc002onm.4	+	10	1481	c.1083C>T	c.(1081-1083)cgC>cgT	p.R361R	PLD3_uc002onj.4_Silent_p.R361R|PLD3_uc002onn.3_Silent_p.R361R	NM_001031696	NP_036400	Q8IV08	PLD3_HUMAN	Homo sapiens phospholipase D family, member 3 (PLD3), transcript variant 1, mRNA.	361					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)			TCAAGGTGCGCCTGCTCATCA	0.642000														165			39		0	0	0.069456	0	0
PEAK1	79834	broad.mit.edu	37	15	77472919	77472919	+	Missense_Mutation	SNP	T	C	C			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr15:77472919T>C	uc021sqy.1	-	4	1926	c.1350A>G	c.(1348-1350)atA>atG	p.I450M	PEAK1_uc002bcn.2_Missense_Mutation_p.I450M|PEAK1_uc021sqz.1_5'Flank	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	Homo sapiens NKF3 kinase family member (PEAK1), mRNA.	450					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										GGACAAGGTTTATGGTTACTG	0.463000														356			68		0	0	0.139131	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37506771	37506771	+	Missense_Mutation	SNP	A	G	G			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr10:37506771A>G	uc021ppc.1	+	32	3163	c.3064A>G	c.(3064-3066)Ata>Gta	p.I1022V	ANKRD30A_uc001iza.1_Missense_Mutation_p.I1022V	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1078						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.I1022T(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AATACAAGATATAGAATTGAA	0.274000														56			15		0	0	0.132662	0	0
TPO	7173	broad.mit.edu	37	2	1520713	1520713	+	Silent	SNP	C	T	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr2:1520713C>T	uc002qwr.3	+	14	2663	c.2577C>T	c.(2575-2577)atC>atT	p.I859I	TPO_uc010ewj.3_Non-coding_Transcript|TPO_uc002qww.3_Silent_p.I859I|TPO_uc002qwx.3_Silent_p.I802I|TPO_uc002qwu.3_Silent_p.I802I|TPO_uc010yio.2_Silent_p.I686I|TPO_uc010yip.2_Silent_p.I815I|TPO_uc002qwy.1_Silent_p.I155I|TPO_uc002qwz.3_Non-coding_Transcript	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	859					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CTCTGCTGATCGGAGGCTTCG	0.547000														109			13		0	0	0.105934	0	0
WDR47	22911	broad.mit.edu	37	1	109560150	109560150	+	Missense_Mutation	SNP	C	A	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:109560150C>A	uc001dwl.3	-	2	608	c.232G>T	c.(232-234)Gac>Tac	p.D78Y	WDR47_uc001dwi.3_Missense_Mutation_p.D78Y|WDR47_uc001dwj.3_Missense_Mutation_p.D78Y|WDR47_uc001dwk.2_Intron|WDR47_uc010ovf.2_Missense_Mutation_p.D5Y	NM_001142550	NP_001136022	O94967	WDR47_HUMAN	Homo sapiens WD repeat domain 47 (WDR47), transcript variant 1, mRNA.	78	CTLH.									breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		CTTTTTTTGTCAAATTTTTCC	0.289000														117			15		6.31663e-08	6.44687e-08	0.132662	1	0
NRXN2	9379	broad.mit.edu	37	11	64434761	64434761	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr11:64434761C>T	uc021qkw.1	-	8	2221	c.1759G>A	c.(1759-1761)Gag>Aag	p.E587K	NRXN2_uc021qkx.1_Missense_Mutation_p.E556K|NRXN2_uc001oas.3_Missense_Mutation_p.E556K|NRXN2_uc001oaq.3_Missense_Mutation_p.E254K	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	587	Laminin G-like 3.				cell adhesion	integral to membrane	metal ion binding	p.E587K(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TGACACCACTCGCCATCATTG	0.592000														224			39		0	0	0.080422	0	0
OR5L1	219437	broad.mit.edu	37	11	55579400	55579400	+	Missense_Mutation	SNP	C	T	T	rs144467940	by1000genomes	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr11:55579400C>T	uc001nhw.1	+	0	458	c.458C>T	c.(457-459)aCg>aTg	p.T153M		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G152R(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TTCTGTGGGACGGTGTGTTCT	0.453000														363			70		0	0	0.139131	0	0
GRID1	2894	broad.mit.edu	37	10	87362370	87362370	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr10:87362370G>A	uc001kdl.1	-	15	2791	c.2690C>T	c.(2689-2691)tCg>tTg	p.S897L	GRID1_uc009xsu.1_Non-coding_Transcript|GRID1_uc010qmf.1_Missense_Mutation_p.S468L|LOC100507470_uc001kdk.2_Intron	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	897						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.A896V(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GAGCTCAATCGACGCTGGGGA	0.592000										Multiple Myeloma(13;0.14)				61			12		0	0	0.080935	0	0
PRODH2	58510	broad.mit.edu	37	19	36302895	36302895	+	Missense_Mutation	SNP	T	A	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:36302895T>A	uc002obx.1	-	4	812	c.794A>T	c.(793-795)gAg>gTg	p.E265V		NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	Homo sapiens proline dehydrogenase (oxidase) 2 (PRODH2), mRNA.	265					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGCCAGCCTCTCGGGGCTCAG	0.637000														135			9		0	0	0.047766	0	0
DEFB136	613210	broad.mit.edu	37	8	11831528	11831528	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr8:11831528G>A	uc011kxm.2	-	1	155	c.155C>T	c.(154-156)gCg>gTg	p.A52V		NM_001033018	NP_001028190	Q30KP8	DB136_HUMAN	Homo sapiens defensin, beta 136 (DEFB136), mRNA.	52					defense response to bacterium	extracellular region				endometrium(2)|large_intestine(1)|lung(4)	7			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.163)		GTGGCAGAACGCAATCCACCT	0.458000														396			29		0	0	0.116897	0	0
PCDH12	51294	broad.mit.edu	37	5	141335640	141335640	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr5:141335640C>T	uc003llx.3	-	0	2988	c.1777G>A	c.(1777-1779)Gag>Aag	p.E593K		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	Homo sapiens protocadherin 12 (PCDH12), mRNA.	593					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGGAGTCTCGATGGGCACC	0.597000														121			24		0	0	0.076483	0	0
APBA2	321	broad.mit.edu	37	15	29346316	29346316	+	Missense_Mutation	SNP	G	A	A	rs140795962		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr15:29346316G>A	uc001zck.3	+	2	433	c.229G>A	c.(229-231)Gtg>Atg	p.V77M	APBA2_uc010azj.2_Missense_Mutation_p.V77M|APBA2_uc010uat.2_Missense_Mutation_p.V77M|APBA2_uc001zcl.3_Missense_Mutation_p.V77M|APBA2_uc010uas.1_Missense_Mutation_p.V77M	NM_005503	NP_005494	Q99767	APBA2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 2 (APBA2), transcript variant 1, mRNA.	77					nervous system development|protein transport		protein binding	p.Y76Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CTCTGACTACGTGAACAACAC	0.637000														344			54		0	0	0.139131	0	0
FAM86C1	55199	broad.mit.edu	37	8	8094726	8094726	+	RNA	SNP	G	A	A	rs2945249	by1000genomes	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr8:8094726G>A	uc011kwt.2	+	6		c.955G>A			FAM86C1_uc010lrq.2_Non-coding_Transcript|FAM86C1_uc003wsf.4_Non-coding_Transcript			Q9NVL1	FA86C_HUMAN	Homo sapiens family with sequence similarity 86, member A pseudogene (FLJ10661), transcript variant 1, non-coding RNA.											lung(1)	1						GAGCACCAGCGGGCTTCTGAG	0.612000														93			7		0	0	0.029380	0	0
PRR11	55771	broad.mit.edu	37	17	57270942	57270942	+	Missense_Mutation	SNP	C	G	G			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:57270942C>G	uc002ixf.2	+	4	804	c.492C>G	c.(490-492)atC>atG	p.I164M	PRR11_uc021uar.1_Non-coding_Transcript	NM_018304	NP_060774	Q96HE9	PRR11_HUMAN	Homo sapiens proline rich 11 (PRR11), mRNA.	164										breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GCGTTCTGATCACCCCTGGAG	0.537000														250			23		0	0	0.183431	0	0
IL1RN	3557	broad.mit.edu	37	2	113885304	113885304	+	Missense_Mutation	SNP	A	T	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr2:113885304A>T	uc002tjb.3	+	0	167	c.103A>T	c.(103-105)Atg>Ttg	p.M35L	IL1RN_uc002tix.1_Non-coding_Transcript|IL1RN_uc002tiz.3_Missense_Mutation_p.M38L|IL1RN_uc002tiy.3_Missense_Mutation_p.M1L|IL1RN_uc002tja.3_Missense_Mutation_p.M17L	NM_173842	NP_776215	P18510	IL1RA_HUMAN	Homo sapiens interleukin 1 receptor antagonist (IL1RN), transcript variant 1, mRNA.	35					immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Anakinra(DB00026)	ATCCAGCAAGATGCAAGCCTT	0.562000									Lichen Sclerosis et Atrophicus, Familial Clustering of					113			17		0	0	0.043863	0	0
PRODH2	58510	broad.mit.edu	37	19	36302896	36302896	+	Nonsense_Mutation	SNP	C	A	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:36302896C>A	uc002obx.1	-	4	811	c.793G>T	c.(793-795)Gag>Tag	p.E265*		NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	Homo sapiens proline dehydrogenase (oxidase) 2 (PRODH2), mRNA.	265					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCCAGCCTCTCGGGGCTCAGC	0.637000														136			9		5.4927e-09	5.72397e-09	0.047766	1	0
abParts	0	broad.mit.edu	37	22	22663087	22663087	+	RNA	SNP	A	G	G	rs1054158		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr22:22663087A>G	uc021wml.1	+	30		c.2445A>G			abParts_uc011aiq.1_Non-coding_Transcript|abParts_uc011aip.2_Non-coding_Transcript|abParts_uc010gto.3_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		GCTGCCACATAAGTTGTCCTT	0.303000														56			9		0	0	0.047766	0	0
DYSF	8291	broad.mit.edu	37	2	71741003	71741003	+	Missense_Mutation	SNP	T	A	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr2:71741003T>A	uc010fen.3	+	6	852	c.711T>A	c.(709-711)agT>agA	p.S237R	DYSF_uc010fei.3_Missense_Mutation_p.S236R|DYSF_uc010feh.3_Missense_Mutation_p.S205R|DYSF_uc002sig.4_Missense_Mutation_p.S205R|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.S236R|DYSF_uc010fee.3_Missense_Mutation_p.S205R|DYSF_uc010fef.3_Missense_Mutation_p.S236R|DYSF_uc002sie.3_Missense_Mutation_p.S205R|DYSF_uc010feo.3_Missense_Mutation_p.S237R|DYSF_uc010fej.3_Missense_Mutation_p.S206R|DYSF_uc010fel.3_Missense_Mutation_p.S206R|DYSF_uc010fem.3_Missense_Mutation_p.S206R|DYSF_uc002sif.3_Missense_Mutation_p.S206R|DYSF_uc010fek.3_Missense_Mutation_p.S237R	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	205	C2 2.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GAAAGCGAAGTGCGCCTACAT	0.582000														116			8		0	0	0.058154	0	0
GABRG2	2566	broad.mit.edu	37	5	161576159	161576159	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr5:161576159G>A	uc010jjc.3	+	8	1446	c.1088G>A	c.(1087-1089)cGg>cAg	p.R363Q	GABRG2_uc003lyy.4_Missense_Mutation_p.R323Q|GABRG2_uc003lyz.4_Missense_Mutation_p.R323Q|GABRG2_uc011dej.2_Missense_Mutation_p.R228Q	NM_198903	NP_944493	P18507	GBRG2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.	323					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		ACCATTGCCCGGAAATCGCTC	0.473000														183			13		0	0	0.119110	0	0
AXIN1	8312	broad.mit.edu	37	16	343713	343713	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr16:343713G>A	uc002cgp.2	-	7	2350	c.1961C>T	c.(1960-1962)tCg>tTg	p.S654L	LUC7L_uc021szo.1_Intron|AXIN1_uc002cgq.2_Missense_Mutation_p.S654L	NM_003502	NP_003493	O15169	AXIN1_HUMAN	Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA.	654	Interaction with PPP2CA.|Interaction with RNF111.				Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis|activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	GTPase activator activity|I-SMAD binding|armadillo repeat domain binding|beta-catenin binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CCTCGTCCCCGAAGACCTTGG	0.637000														256			19		0	0	0.049695	0	0
FAM179B	23116	broad.mit.edu	37	14	45431977	45431977	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr14:45431977C>T	uc001wvw.3	+	0	562	c.353C>T	c.(352-354)gCt>gTt	p.A118V	FAM179B_uc001wvv.3_Missense_Mutation_p.A118V|FAM179B_uc010anc.3_Non-coding_Transcript|KLHL28_uc001wvq.3_5'Flank|KLHL28_uc001wvr.3_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.A118V|FAM179B_uc001wvu.3_Missense_Mutation_p.A118V	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	Homo sapiens family with sequence similarity 179, member B (FAM179B), mRNA.	118							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GCTTTGCAAGCTGCTTTGCCG	0.617000														420			24		0	0	0.076483	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5239938	5239938	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr5:5239938G>A	uc003jdl.3	+	15	2561	c.2423G>A	c.(2422-2424)cGg>cAg	p.R808Q	ADAMTS16_uc003jdk.1_Missense_Mutation_p.R808Q	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	808	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TGGCCCGGCCGGTACAAATTT	0.512000														266			22		0	0	0.069288	0	0
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	G	G	rs41559716	by1000genomes	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr6:29910693A>G	uc003nol.3	+	1	317	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Intron|AK097625_uc003nog.1_Intron|HLA-A_uc021ytz.1_Missense_Mutation_p.Q78R|HLA-A_uc010jrq.3_5'UTR|HLA-A_uc003nok.3_5'UTR|HLA-A_uc021yua.1_Silent_p.A121A|HLA-A_uc010klp.2_Missense_Mutation_p.Q50R|HLA-A_uc011dmc.2_5'UTR|HLA-A_uc011dmd.2_5'Flank|HLA-A_uc021yub.1_5'Flank	NM_002116	NP_002107	P30443	1A01_HUMAN	Homo sapiens major histocompatibility complex, class I, A (HLA-A), transcript variant 1, mRNA.	78	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to plasma membrane	MHC class I receptor activity	p.Q78R(4)|p.Q78*(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)				60			7		0	0	0.058154	0	0
CHAT	1103	broad.mit.edu	37	10	50833616	50833616	+	Missense_Mutation	SNP	G	A	A	rs146236256		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr10:50833616G>A	uc001jhz.2	+	5	1003	c.850G>A	c.(850-852)Ggc>Agc	p.G284S	CHAT_uc001jhv.1_Missense_Mutation_p.G166S|CHAT_uc001jhx.1_Missense_Mutation_p.G166S|CHAT_uc001jhy.1_Missense_Mutation_p.G166S|CHAT_uc001jia.2_Missense_Mutation_p.G202S|CHAT_uc010qgs.1_Missense_Mutation_p.G166S	NM_020549	NP_066266	P28329	CLAT_HUMAN	Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA.	284					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	p.P283P(1)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CCGGCTCCCCGGCCATACCCA	0.592000														30			9		0	0	0.047766	0	0
SEPSECS	51091	broad.mit.edu	37	4	25158572	25158572	+	Silent	SNP	G	A	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr4:25158572G>A	uc003grg.3	-	2	507	c.294C>T	c.(292-294)tcC>tcT	p.S98S	SEPSECS_uc003gri.3_Silent_p.S97S|SEPSECS_uc003grh.3_Silent_p.S19S	NM_016955	NP_058651	Q9HD40	SPCS_HUMAN	Homo sapiens Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase (SEPSECS), mRNA.	98				S -> P (in Ref. 8; AAG00491).	selenocysteine incorporation	cytoplasm|nucleus	pyridoxal phosphate binding|tRNA binding|transferase activity, transferring selenium-containing groups			endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8		Breast(46;0.173)			Pyridoxal Phosphate(DB00114)	AAATATCACCGGATCGTCCAA	0.398000														114			27		0	0	0.099896	0	0
OR1A1	8383	broad.mit.edu	37	17	3119669	3119669	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:3119669G>A	uc010vrc.2	+	0	755	c.755G>A	c.(754-756)gGt>gAt	p.G252D		NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily A, member 1 (OR1A1), mRNA.	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						TTGTATTATGGTACAGTCATG	0.498000														254			44		0	0	0.111260	0	0
FLJ43860	389690	broad.mit.edu	37	8	142445279	142445279	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr8:142445279G>A	uc003ywi.2	-	27	3704	c.3623C>T	c.(3622-3624)aCg>aTg	p.T1208M	FLJ43860_uc011ljs.1_Non-coding_Transcript|FLJ43860_uc010meu.1_Non-coding_Transcript	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	1209							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CCAGGCCAGCGTGCAGAAGAG	0.682000														82			22		0	0	0.055883	0	0
ABHD15	116236	broad.mit.edu	37	17	27889843	27889843	+	Silent	SNP	G	A	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:27889843G>A	uc002hed.2	-	1	1201	c.1143C>T	c.(1141-1143)ttC>ttT	p.F381F		NM_198147	NP_937790	Q6UXT9	ABH15_HUMAN	Homo sapiens abhydrolase domain containing 15 (ABHD15), mRNA.	381						extracellular region	carboxylesterase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						GCAGGAGGAAGAAGTAGGGGT	0.617000														200			12		0	0	0.093190	0	0
RYBP	23429	broad.mit.edu	37	3	72427709	72427709	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr3:72427709C>T	uc003dpe.3	-	3	484	c.484G>A	c.(484-486)Gac>Aac	p.D162N		NM_012234	NP_036366	Q8N488	RYBP_HUMAN	Homo sapiens RING1 and YY1 binding protein (RYBP), mRNA.	172	Interaction with E4TF1B.				apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		TCCTTAAAGTCTGTGATAATG	0.552000														127			24		0	0	0.069288	0	0
MAP2K7	5609	broad.mit.edu	37	19	7976364	7976364	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:7976364C>T	uc002mit.3	+	8	1045	c.980C>T	c.(979-981)aCg>aTg	p.T327M	MAP2K7_uc002miv.2_Missense_Mutation_p.T334M|MAP2K7_uc010xka.1_Non-coding_Transcript|MAP2K7_uc010dvv.3_Missense_Mutation_p.T202M|MAP2K7_uc010xkb.2_Missense_Mutation_p.T334M	NM_145185	NP_660186	O14733	MP2K7_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 7 (MAP2K7), mRNA.	327	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of JUN kinase activity|innate immune response|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	AACTGCAAGACGGACTTTGAG	0.592000														85			24		0	0	0.091800	0	0
ZNF267	10308	broad.mit.edu	37	16	31926313	31926313	+	Missense_Mutation	SNP	A	G	G			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr16:31926313A>G	uc002ecs.4	+	3	952	c.743A>G	c.(742-744)gAa>gGa	p.E248G		NM_003414	NP_003405	Q14586	ZN267_HUMAN	Homo sapiens zinc finger protein 267 (ZNF267), transcript variant 498723, mRNA.	248					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AAATGTAAAGAATTTGAGGAA	0.303000														83			15		0	0	0.132662	0	0
MYLK	4638	broad.mit.edu	37	3	123383037	123383037	+	Silent	SNP	C	T	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr3:123383037C>T	uc003ego.3	-	22	4182	c.3900G>A	c.(3898-3900)gcG>gcA	p.A1300A	MYLK_uc010hrr.3_5'UTR|MYLK_uc011bjv.2_Silent_p.A100A|MYLK_uc011bjw.2_Silent_p.A1300A|MYLK_uc003egp.3_Silent_p.A1231A|MYLK_uc003egq.3_Silent_p.A1300A|MYLK_uc003egr.3_Silent_p.A1231A|MYLK_uc003egs.3_Silent_p.A1124A	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1300	Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 8.			A -> G (in Ref. 1; CAA59685).	aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GCTCCTGGCGCGCGGCCAGGA	0.627000														631			44		0	0	0.098360	0	0
CCDC61	729440	broad.mit.edu	37	19	46506729	46506729	+	Silent	SNP	C	T	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:46506729C>T	uc002pdw.3	+	3	372	c.372C>T	c.(370-372)ttC>ttT	p.F124F	CCDC61_uc021uwd.1_Silent_p.F67F	NM_001080402	NP_001073871			Homo sapiens coiled-coil domain containing 61 (CCDC61), mRNA.											endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		TCAACATCTTCTGTCATATGC	0.567000														68			13		0	0	0.093190	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25144704	25144704	+	RNA	SNP	T	C	C	rs71218558	by1000genomes	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr13:25144704T>C	uc001upm.3	+	3		c.245T>C								Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 6 (TPTE2P6), non-coding RNA.																		TACATAGATGTGTTTAACACA	0.388000														46			9		0	0	0.093190	0	0
NBEAL1	65065	broad.mit.edu	37	2	204009874	204009874	+	Silent	SNP	C	T	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr2:204009874C>T	uc002uzt.3	+	31	5541	c.5208C>T	c.(5206-5208)ctC>ctT	p.L1736L	NBEAL1_uc021vvj.1_Silent_p.L439L	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	1736							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AAAGCAAGCTCAAATTTCAGG	0.333000														138			10		0	0	0.069234	0	0
DISC1	27185	broad.mit.edu	37	1	231830151	231830151	+	Missense_Mutation	SNP	C	T	T	rs139420445	byFrequency	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:231830151C>T	uc010pxh.2	+	1	700	c.647C>T	c.(646-648)tCg>tTg	p.S216L	DISC1_uc010pwe.2_Missense_Mutation_p.S171L|DISC1_uc010pwf.2_Missense_Mutation_p.S171L|DISC1_uc010pwj.1_Missense_Mutation_p.S205L|DISC1_uc010pwk.1_Missense_Mutation_p.S205L|DISC1_uc010pwg.1_Missense_Mutation_p.S205L|DISC1_uc010pwh.1_Missense_Mutation_p.S171L|DISC1_uc010pwi.1_Missense_Mutation_p.S171L|DISC1_uc010pwl.2_Non-coding_Transcript|DISC1_uc010pwp.2_Missense_Mutation_p.S216L|DISC1_uc010pwo.2_Missense_Mutation_p.S216L|DISC1_uc010pwq.2_Missense_Mutation_p.S216L|DISC1_uc010pwr.1_Missense_Mutation_p.S216L|DISC1_uc010pws.1_Missense_Mutation_p.S216L|DISC1_uc010pwt.1_Missense_Mutation_p.S216L|DISC1_uc010pwu.1_Intron|DISC1_uc010pwv.2_Non-coding_Transcript|DISC1_uc010pwx.2_Non-coding_Transcript|DISC1_uc010pww.2_Missense_Mutation_p.S216L|DISC1_uc001huy.3_Missense_Mutation_p.S216L|DISC1_uc010pwy.2_Non-coding_Transcript|DISC1_uc010pwz.2_Non-coding_Transcript|DISC1_uc010pxa.2_Non-coding_Transcript|DISC1_uc010pxb.1_Missense_Mutation_p.S216L|DISC1_uc010pxc.1_Missense_Mutation_p.S216L|DISC1_uc010pxe.2_Missense_Mutation_p.S216L|DISC1_uc010pxf.2_Missense_Mutation_p.S216L|DISC1_uc010pxg.2_Missense_Mutation_p.S216L|DISC1_uc010pxd.2_5'UTR|DISC1_uc009xfr.3_Missense_Mutation_p.S171L|DISC1_uc010pxn.1_5'UTR|DISC1_uc010pxk.1_Non-coding_Transcript|DISC1_uc010pxi.1_Non-coding_Transcript|DISC1_uc010pxj.1_5'UTR|DISC1_uc010pxl.1_Non-coding_Transcript|DISC1_uc010pxm.2_Missense_Mutation_p.S216L|DISC1_uc001huz.3_Missense_Mutation_p.S216L|DISC1_uc001hva.3_Missense_Mutation_p.S216L|DISC1_uc010pwm.2_Missense_Mutation_p.S216L|DISC1_uc001hvc.3_Missense_Mutation_p.S216L|DISC1_uc010pwn.1_Missense_Mutation_p.S216L|DISC1_uc021pkn.1_Missense_Mutation_p.S216L|DISC1_uc001hux.1_Missense_Mutation_p.S216L	NM_001164537	NP_001158009	Q9NRI5	DISC1_HUMAN	Homo sapiens disrupted in schizophrenia 1 (DISC1), transcript variant a, mRNA.	216	Interaction with MAP1A.				Wnt receptor signaling pathway|microtubule cytoskeleton organization|neuron migration|positive regulation of Wnt receptor signaling pathway|positive regulation of neuroblast proliferation	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				ATTCGGCTCTCGCTTGGCTCT	0.607000														174			16		0	0	0.132662	0	0
GRAMD1A	57655	broad.mit.edu	37	19	35500042	35500042	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:35500042C>T	uc010xsf.1	+	1	43	c.43C>T	c.(43-45)Cgg>Tgg	p.R15W	GRAMD1A_uc002nxi.1_Missense_Mutation_p.R97W|GRAMD1A_uc010xse.1_Missense_Mutation_p.R10W|GRAMD1A_uc002nxk.2_Missense_Mutation_p.R10W|GRAMD1A_uc002nxl.2_5'UTR	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	Homo sapiens GRAM domain containing 1A (GRAMD1A), transcript variant 1, mRNA.	10						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CCACTCTGGCCGGAGCACGCC	0.622000														264			22		0	0	0.083992	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12943068	12943068	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:12943068G>A	uc001aun.2	-	1	219	c.148C>T	c.(148-150)Cgc>Tgc	p.R50C		NM_001009611	NP_001009611	O60810	PRAM4_HUMAN	Homo sapiens PRAME family member 4 (PRAMEF4), mRNA.	50								p.R50C(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCCTCACAGCGTCTCCTGCTG	0.607000														345			34		0	0	0.183431	0	0
NTNG1	22854	broad.mit.edu	37	1	107979392	107979392	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:107979392C>T	uc001dvh.4	+	6	2079	c.1361C>T	c.(1360-1362)cCg>cTg	p.P454L	NTNG1_uc001dvc.4_Intron|NTNG1_uc010out.2_Missense_Mutation_p.P420L|NTNG1_uc001dvf.4_Intron|NTNG1_uc001dvi.3_Missense_Mutation_p.R22W|NTNG1_uc001dve.3_Non-coding_Transcript|NTNG1_uc009wek.3_Non-coding_Transcript|NTNG1_uc001dvg.3_Intron|NTNG1_uc009wem.3_Intron	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	Homo sapiens netrin G1 (NTNG1), transcript variant 1, mRNA.	454	Laminin EGF-like 3.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		GAGTGTCTGCCGGGAAATTCC	0.517000														64			14		0	0	0.132662	0	0
CCDC116	164592	broad.mit.edu	37	22	21991276	21991276	+	Missense_Mutation	SNP	G	T	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr22:21991276G>T	uc002zve.3	+	4	1852	c.1759G>T	c.(1759-1761)Gat>Tat	p.D587Y		NM_152612	NP_689825	Q8IYX3	CC116_HUMAN	Homo sapiens coiled-coil domain containing 116 (CCDC116), mRNA.	0										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					TGAGGGCCGTGATAAAGCCGA	0.557000														198			18		1.45105e-14	1.52824e-14	0.175082	1	0
CDKN2A	1029	broad.mit.edu	37	9	21971111	21971111	+	Missense_Mutation	SNP	G	C	C	rs121913385		TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr9:21971111G>C	uc003zpk.3	-	1	553	c.247C>G	c.(247-249)Cac>Gac	p.H83D	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Missense_Mutation_p.H83D|CDKN2A_uc003zpl.3_Missense_Mutation_p.A97G	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	83			H -> N (in a lung tumor).|H -> Q (in dbSNP:rs34968276).|H -> Y (in a pancreas and a head and neck tumor).		G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.H83Y(64)|p.?(44)|p.H83fs*2(4)|p.V82_G89>G(2)|p.H83N(2)|p.V82fs*62(2)|p.P81_A85del(2)|p.V82_E88del(2)|p.V82M(2)|p.H83P(2)|p.E61_L94del(2)|p.A138V(2)|p.R80fs*34(1)|p.A68fs*3(1)|p.H83Q(1)|p.V82fs*44(1)|p.H83R(1)|p.V82V(1)|p.0(1)|p.V82fs*64(1)|p.R137fs*48(1)|p.V82L(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGCGTCGTGCACGGGTCGG	0.741000	H83Y(CALU3_LUNG)|H83Y(HS944T_SKIN)|H83Y(JHH2_LIVER)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				48			8		0	0	0.047766	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140180975	140180975	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr5:140180975C>T	uc003lhf.2	+	0	193	c.193C>T	c.(193-195)Cgg>Tgg	p.R65W	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.R65W	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	78	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCCTGTTCCGGGTGGCGTC	0.617000														408			34		0	0	0.163468	0	0
AK296148	0	broad.mit.edu	37	17	18333915	18333915	+	RNA	SNP	C	T	T	rs148961204	by1000genomes	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:18333915C>T	uc010vxz.2	+	5		c.1148C>T								Homo sapiens cDNA FLJ61294 complete cds, highly similar to Keratin, type I cytoskeletal 17.																		CAGAGAACCGCTACTGCATGC	0.612000														64			6		0	0	0.021553	0	0
FAM47A	158724	broad.mit.edu	37	X	34150323	34150323	+	Silent	SNP	G	T	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chrX:34150323G>T	uc004ddg.3	-	0	125	c.73C>A	c.(73-75)Cgg>Agg	p.R25R		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	25										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TTGGAAGGCCGTTTGTTACAG	0.612000														120			11		2.27111e-07	2.29429e-07	0.093190	1	0
PRR11	55771	broad.mit.edu	37	17	57271093	57271093	+	Nonsense_Mutation	SNP	C	T	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:57271093C>T	uc002ixf.2	+	4	955	c.643C>T	c.(643-645)Cag>Tag	p.Q215*	PRR11_uc021uar.1_Non-coding_Transcript	NM_018304	NP_060774	Q96HE9	PRR11_HUMAN	Homo sapiens proline rich 11 (PRR11), mRNA.	215										breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TAAAGCACTTCAGGTAGGTAA	0.473000														222			61		0	0	0.139131	0	0
AGAP2	116986	broad.mit.edu	37	12	58127884	58127884	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr12:58127884G>A	uc001spq.3	-	4	1474	c.1474C>T	c.(1474-1476)Cgt>Tgt	p.R492C	AGAP2_uc001spp.3_Missense_Mutation_p.R492C|AGAP2_uc001spr.3_Missense_Mutation_p.R156C	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 (AGAP2), transcript variant 1, mRNA.	492	G domain.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	p.R156S(1)		breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						CCATGGAGACGGCTCACAGCC	0.592000														87			8		0	0	0.038147	0	0
KDM5B	10765	broad.mit.edu	37	1	202714993	202714993	+	Silent	SNP	C	T	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:202714993C>T	uc009xag.3	-	16	2540	c.2424G>A	c.(2422-2424)aaG>aaA	p.K808K	KDM5B_uc001gyf.3_Silent_p.K772K|KDM5B_uc001gyg.1_Silent_p.K614K	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	772					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TACTTTTCTTCTTGTTGATCT	0.383000														303			20		0	0	0.043863	0	0
COL5A3	50509	broad.mit.edu	37	19	10097024	10097024	+	Silent	SNP	G	A	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:10097024G>A	uc002mmq.1	-	29	2405	c.2319C>T	c.(2317-2319)ggC>ggT	p.G773G		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	773	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GCCCCTCCTCGCCAGCCTGCC	0.612000														92			15		0	0	0.119110	0	0
OR1D2	4991	broad.mit.edu	37	17	2996105	2996105	+	Silent	SNP	G	A	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:2996105G>A	uc010vrb.2	-	0	186	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_002548	NP_002539	P34982	OR1D2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily D, member 2 (OR1D2), mRNA.	62					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						GGTTGGCCAGGAAGAAGTACA	0.537000														372			35		0	0	0.080422	0	0
EYS	346007	broad.mit.edu	37	6	66063415	66063415	+	Missense_Mutation	SNP	G	C	C			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr6:66063415G>C	uc011dxu.1	-	8	1933	c.1395C>G	c.(1393-1395)ttC>ttG	p.F465L	EYS_uc003peq.3_Missense_Mutation_p.F465L|EYS_uc003per.1_Missense_Mutation_p.F465L|EYS_uc021zbn.1_Missense_Mutation_p.F465L	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	Homo sapiens eyes shut homolog (Drosophila) (EYS), transcript variant 1, mRNA.	465					response to stimulus|visual perception	extracellular region	calcium ion binding	p.T464N(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						AAATACCATGGAAGGTGACTC	0.373000														145			20		0	0	0.062417	0	0
MSRB3	253827	broad.mit.edu	37	12	65857005	65857005	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr12:65857005C>T	uc001ssn.3	+	5	608	c.482C>T	c.(481-483)tCg>tTg	p.S161L	MSRB3_uc009zqp.3_Missense_Mutation_p.S154L|MSRB3_uc001ssm.3_Missense_Mutation_p.S154L|MSRB3_uc021qzy.1_Missense_Mutation_p.S154L	NM_198080	NP_932346	Q8IXL7	MSRB3_HUMAN	Homo sapiens methionine sulfoxide reductase B3 (MSRB3), transcript variant 1, mRNA.	161					protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding	p.S161L(1)|p.S154L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		TGCATAAATTCGGCTGCCTTG	0.547000														186			37		0	0	0.080422	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	311344	311344	+	RNA	SNP	C	T	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chrGL000192.1:311344C>T	uc010yij.1	-	6		c.1025G>A			HYDIN_uc021vdl.1_Non-coding_Transcript	NM_017558		Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 2, mRNA.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TACCTTGCTGCAATTAAGAGC	0.577000														77			5		0	0	0.014758	0	0
RSU1	6251	broad.mit.edu	37	10	16794556	16794556	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr10:16794556C>T	uc001iok.3	-	5	882	c.580G>A	c.(580-582)Gtt>Att	p.V194I	RSU1_uc001iol.3_Missense_Mutation_p.V194I|RSU1_uc001iom.3_Missense_Mutation_p.V141I|RSU1_uc001ion.3_Missense_Mutation_p.V194I	NM_152724	NP_689937	Q15404	RSU1_HUMAN	Homo sapiens Ras suppressor protein 1 (RSU1), transcript variant 2, mRNA.	194					cell junction assembly|signal transduction	cytosol	protein binding	p.T193T(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(1;7.54e-08)		GGGGGCAGAACGGTGAGGCGG	0.468000														329			24		0	0	0.116897	0	0
GTPBP5	26164	broad.mit.edu	37	20	60774235	60774235	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr20:60774235G>A	uc002yce.4	+	5	786	c.748G>A	c.(748-750)Gcc>Acc	p.A250T	GTPBP5_uc011aaf.2_Intron|GTPBP5_uc011aab.2_Missense_Mutation_p.A22T|GTPBP5_uc011aac.2_Missense_Mutation_p.A22T|GTPBP5_uc011aad.2_Missense_Mutation_p.A22T|GTPBP5_uc011aae.2_Missense_Mutation_p.A22T	NM_015666	NP_056481	Q9H4K7	GTPB5_HUMAN	Homo sapiens GTP binding protein 5 (putative) (GTPBP5), mRNA.	250	G.|Localized in the mitocondria.|Not localized in the mitocondria.				ribosome biogenesis	mitochondrion	GTP binding|GTPase activity|magnesium ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)	15	Breast(26;3.52e-09)		BRCA - Breast invasive adenocarcinoma(19;2.5e-08)			CGCCAGACCCGCCGTGGCTTC	0.622000														68			35		0	0	0.069456	0	0
FRMPD3	84443	broad.mit.edu	37	X	106845431	106845431	+	Missense_Mutation	SNP	T	C	C			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chrX:106845431T>C	uc022cce.1	+	0	1797	c.1429T>C	c.(1429-1431)Tac>Cac	p.Y477H				Q5JV73	FRPD3_HUMAN	Homo sapiens mRNA for KIAA1817 protein, partial cds.	1421	FERM.					cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						AGCTCCCAATTACAGGAAACT	0.617000														109			46		0	0	0.131918	0	0
RPL23AP53	644128	broad.mit.edu	37	8	163401	163401	+	RNA	SNP	G	C	C			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr8:163401G>C	uc010lra.3	-	3		c.732C>G			RPL23AP53_uc003woq.4_Non-coding_Transcript|RPL23AP53_uc010lrb.3_Non-coding_Transcript					Homo sapiens ribosomal protein L23a pseudogene 53 (RPL23AP53), non-coding RNA.																		TCTGGTGCTTGTTGGCTTTAA	0.463000														85			5		0	0	0.029380	0	0
GPR15	2838	broad.mit.edu	37	3	98251438	98251438	+	Missense_Mutation	SNP	G	C	C			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr3:98251438G>C	uc011bgy.2	+	0	561	c.561G>C	c.(559-561)aaG>aaC	p.K187N		NM_005290	NP_005281	P49685	GPR15_HUMAN	Homo sapiens G protein-coupled receptor 15 (GPR15), mRNA.	187						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.K187N(2)		endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		CAGAGAAAAAGGCAACTCCAA	0.473000														209			15		0	0	0.119110	0	0
DNAJC11	55735	broad.mit.edu	37	1	6727803	6727804	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	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													---	105	---	---	7	---					
TMCO2	127391	broad.mit.edu	37	1	40713708	40713709	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	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													---	446	---	---	11	---					
IPP	3652	broad.mit.edu	37	1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	-	-			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:46184897_46184898delAC	uc001cou.3	-	5	1430_1431	c.1163_1164delGT	c.(1162-1164)tgtfs	p.C388fs	IPP_uc001cos.4_Frame_Shift_Del_p.C388fs	NM_005897	NP_005888	Q9Y573	IPP_HUMAN	Homo sapiens intracisternal A particle-promoted polypeptide (IPP), transcript variant 1, mRNA.	388						actin cytoskeleton|cytoplasm	actin binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347													---	160	---	---	7	---					
PRG4	10216	broad.mit.edu	37	1	186276283	186276285	+	In_Frame_Del	DEL	ACT	-	-	rs146673354	byFrequency	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:186276283_186276285delACT	uc001gru.4	+	6	1483_1485	c.1432_1434delACT	c.(1432-1434)actdel	p.T478del	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_In_Frame_Del_p.T437del|PRG4_uc009wyl.3_In_Frame_Del_p.T385del|PRG4_uc009wym.3_In_Frame_Del_p.T344del|PRG4_uc010poo.2_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	478	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.P479delP(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TGCACCCACCACTCCCAAAGAGC	0.655													---	244	---	---	8	---					
ARV1	64801	broad.mit.edu	37	1	231131567	231131567	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr1:231131567delA	uc009xfl.1	+	3	539	c.510delA	c.(508-510)gcafs	p.A170fs	ARV1_uc001huh.3_Frame_Shift_Del_p.A170fs	NM_022786	NP_073623	Q9H2C2	ARV1_HUMAN	Homo sapiens ARV1 homolog (S. cerevisiae) (ARV1), mRNA.	170					sphingolipid metabolic process	integral to membrane				breast(3)|large_intestine(2)|lung(2)	7	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)		CCATGACGGCAAAAAAAAAGC	0.383													---	189	---	---	12	---					
ABI2	10152	broad.mit.edu	37	2	204267424	204267427	+	Frame_Shift_Del	DEL	ATGA	-	-			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr2:204267424_204267427delATGA	uc002vaa.3	+	8	1394_1397	c.1159_1162delATGA	c.(1159-1164)atgaatfs	p.M387fs	ABI2_uc010zij.2_Frame_Shift_Del_p.M264fs|ABI2_uc002uzz.3_Frame_Shift_Del_p.M320fs|ABI2_uc010zih.2_Frame_Shift_Del_p.M35fs|ABI2_uc010zii.2_Frame_Shift_Del_p.M381fs|ABI2_uc002vab.3_Frame_Shift_Del_p.M275fs|ABI2_uc010zik.2_Frame_Shift_Del_p.M112fs|ABI2_uc010zil.2_Frame_Shift_Del_p.M222fs|ABI2_uc010zim.2_Frame_Shift_Del_p.M173fs|ABI2_uc002vac.3_Frame_Shift_Del_p.M173fs|ABI2_uc010zin.2_Frame_Shift_Del_p.M35fs	NM_005759	NP_005750	Q9NYB9	ABI2_HUMAN	Homo sapiens abl-interactor 2 (ABI2), mRNA.	387	Pro-rich.				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	DNA binding|SH3 domain binding|cytoskeletal adaptor activity|kinase binding|proline-rich region binding|ubiquitin protein ligase binding			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						TCAGAATCAGATGAATGGAGGACC	0.407													---	170	---	---	25	---					
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	-	-	rs2622736	byFrequency	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr3:137880741_137880743delTCG	uc003erv.3	-	7	1777_1779	c.1623_1625delCGA	c.(1621-1626)gacgat>gat	p.541_542DD>D	DBR1_uc003eru.3_In_Frame_Del_p.490_491DD>D|DBR1_uc003ert.3_In_Frame_Del_p.309_310DD>D	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	Homo sapiens debranching enzyme homolog 1 (S. cerevisiae) (DBR1), mRNA.	541						nucleus	RNA lariat debranching enzyme activity|metal ion binding			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394													---	247	---	---	7	---					
CSNK1G3	1456	broad.mit.edu	37	5	122911485	122911487	+	In_Frame_Del	DEL	CTT	-	-			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr5:122911485_122911487delCTT	uc003ktm.3	+	5	1220_1222	c.501_503delCTT	c.(499-504)aacttc>aac	p.F168del	CSNK1G3_uc003ktl.3_In_Frame_Del_p.F168del|CSNK1G3_uc003ktn.3_In_Frame_Del_p.F168del|CSNK1G3_uc003kto.3_In_Frame_Del_p.F168del|CSNK1G3_uc011cwr.2_In_Frame_Del_p.F93del|CSNK1G3_uc011cws.2_In_Frame_Del_p.F55del|CSNK1G3_uc010jda.3_In_Frame_Del_p.F168del	NM_004384	NP_004375	Q9Y6M4	KC1G3_HUMAN	Homo sapiens casein kinase 1, gamma 3 (CSNK1G3), transcript variant 1, mRNA.	168	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		AACCTGAGAACTTCTTAATAGGA	0.335													---	131	---	---	8	---					
PCDHGC5	56097	broad.mit.edu	37	5	140812776	140812776	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr5:140812776delT	uc011dba.2	+	0	2619	c.2450delT	c.(2449-2451)cttfs	p.L817fs	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron	NM_032094	NP_115265	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 2, mRNA.	0					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCttctttcttttttttttt	0.413													---	125	---	---	13	---					
UHRF1BP1	54887	broad.mit.edu	37	6	34804004	34804006	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr6:34804004_34804006delCAG	uc003oju.4	+	7	1146_1148	c.912_914delCAG	c.(910-915)aacagc>aac	p.S308del	UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA.	308										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GCAACAGCAACAGCAGCAGCAGC	0.552													---	606	---	---	7	---					
SRRT	51593	broad.mit.edu	37	7	100479332	100479332	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr7:100479332delG	uc003uwy.2	+	3	571	c.304delG	c.(304-306)gggfs	p.G102fs	SRRT_uc010lhl.1_Frame_Shift_Del_p.G102fs|SRRT_uc003uxa.2_Frame_Shift_Del_p.G102fs|SRRT_uc003uwz.2_Frame_Shift_Del_p.G102fs	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	Homo sapiens serrate RNA effector molecule homolog (Arabidopsis) (SRRT), transcript variant 1, mRNA.	102					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	p.G104fs*45(1)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GCCCTATGCTGGGGGGGGTGG	0.607													---	270	---	---	9	---					
SRRT	51593	broad.mit.edu	37	7	100482040	100482042	+	In_Frame_Del	DEL	AGG	-	-			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr7:100482040_100482042delAGG	uc003uwy.2	+	6	1076_1078	c.809_811delAGG	c.(808-813)caggag>cag	p.E275del	SRRT_uc010lhl.1_In_Frame_Del_p.E275del|SRRT_uc003uxa.2_In_Frame_Del_p.E275del|SRRT_uc003uwz.2_In_Frame_Del_p.E275del	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	Homo sapiens serrate RNA effector molecule homolog (Arabidopsis) (SRRT), transcript variant 1, mRNA.	275	Glu-rich.				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						ATCCTGGAGCAGGAGGAGGAGGA	0.596													---	132	---	---	7	---					
UBQLN3	50613	broad.mit.edu	37	11	5529918	5529920	+	In_Frame_Del	DEL	TGG	-	-	rs2234451	byFrequency	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr11:5529918_5529920delTGG	uc021qcw.1	-	0	869_871	c.869_871delCCA	c.(868-873)accagc>agc	p.T290del	HBG1_uc001mak.1_Intron|UBQLN3_uc001may.1_In_Frame_Del_p.T290del	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	290			T -> S (in dbSNP:rs2234451).							NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGGTTGGCTGGTGGTGGTGGT	0.537													---	284	---	---	8	---					
PAK1	5058	broad.mit.edu	37	11	77069990	77069992	+	In_Frame_Del	DEL	CAT	-	-			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr11:77069990_77069992delCAT	uc001oyh.4	-	5	1081_1083	c.548_550delATG	c.(547-552)gatgct>gct	p.D183del	PAK1_uc010rso.2_In_Frame_Del_p.D85del|PAK1_uc001oyg.4_In_Frame_Del_p.D183del|PAK1_uc001oyi.1_In_Frame_Del_p.D183del|PAK1_uc010rsn.2_5'UTR	NM_002576	NP_002567	Q13153	PAK1_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 1 (PAK1), transcript variant 2, mRNA.	183	Interaction with CRIPAK.				ER-nucleus signaling pathway|T cell costimulation|T cell receptor signaling pathway|apoptosis|axon guidance|cytoskeleton organization|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation	Golgi apparatus|cytosol|focal adhesion	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GGTGGGGTAGcatcatcatcatc	0.478													---	320	---	---	8	---					
ADAMTS7	11173	broad.mit.edu	37	15	79058183	79058184	+	Frame_Shift_Ins	INS	-	TGGGTCC	TGGGTCC			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr15:79058183_79058184insTGGGTCC	uc002bej.4	-	18	4280_4281	c.4069_4070insGGACCCA	c.(4069-4071)aagfs	p.K1357fs	ADAMTS7_uc010und.1_3'UTR	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	1357					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AGGCTGACCCTTGGGTCCTGGG	0.653													---	93	---	---	7	---					
GLIS2	84662	broad.mit.edu	37	16	4387132	4387133	+	Frame_Shift_Ins	INS	-	G	G			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr16:4387132_4387133insG	uc002cwc.1	+	5	1248_1249	c.1182_1183insG	c.(1180-1185)ggtgggfs	p.G394fs		NM_032575	NP_115964	Q9BZE0	GLIS2_HUMAN	Homo sapiens GLIS family zinc finger 2 (GLIS2), mRNA.	394	Gly-rich.				cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						GCAGTGGGGGTGGGGGGGGCAT	0.723													---	4	---	---	2	---					
UBN1	29855	broad.mit.edu	37	16	4910691	4910693	+	In_Frame_Del	DEL	AGA	-	-			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr16:4910691_4910693delAGA	uc002cyb.3	+	6	1037_1039	c.698_700delAGA	c.(697-702)gagaag>gag	p.K238del	UBN1_uc010uxw.2_In_Frame_Del_p.K238del|UBN1_uc002cyc.3_In_Frame_Del_p.K238del	NM_001079514	NP_058632	Q9NPG3	UBN1_HUMAN	Homo sapiens ubinuclein 1 (UBN1), transcript variant 2, mRNA.	238	Lys-rich.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	p.K234E(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GCCAGTAAGGAGAAGAAGAAGAA	0.453													---	600	---	---	8	---					
ZFP90	146198	broad.mit.edu	37	16	68598462	68598463	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr16:68598462_68598463insA	uc010cff.3	+	4	2064_2065	c.1772_1773insA	c.(1771-1773)cgafs	p.R591fs	ZFP90_uc002ewb.3_3'UTR|ZFP90_uc002ewc.3_3'UTR|ZFP90_uc002ewd.3_Frame_Shift_Ins_p.R591fs|ZFP90_uc002ewe.3_Frame_Shift_Ins_p.R591fs	NM_133458	NP_597715	Q8TF47	ZFP90_HUMAN	Homo sapiens zinc finger protein 90 homolog (mouse) (ZFP90), mRNA.	591					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		AGAGCCTTCCGAAAAAAAACCA	0.411													---	420	---	---	7	---					
ANKRD11	29123	broad.mit.edu	37	16	89349640	89349641	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr16:89349640_89349641insT	uc002fmx.1	-	8	3770_3771	c.3309_3310insA	c.(3307-3312)aaagatfs	p.K1103fs	ANKRD11_uc002fmy.1_Frame_Shift_Ins_p.K1103fs|ANKRD11_uc002fnc.1_Frame_Shift_Ins_p.K1103fs|ANKRD11_uc002fnb.1_Frame_Shift_Ins_p.K1060fs	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	1103	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTCTTGTCATCTTTTTTTTCAG	0.465													---	383	---	---	7	---					
NUFIP2	57532	broad.mit.edu	37	17	27620990	27620992	+	In_Frame_Del	DEL	GCT	-	-			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr17:27620990_27620992delGCT	uc002hdy.4	-	0	175_177	c.86_88delAGC	c.(85-90)cagccg>ccg	p.Q29del	NUFIP2_uc002hdx.4_In_Frame_Del_p.Q29del	NM_020772	NP_065823	Q7Z417	NUFP2_HUMAN	Homo sapiens nuclear fragile X mental retardation protein interacting protein 2 (NUFIP2), mRNA.	29	His-rich.					nucleus|polysomal ribosome	RNA binding|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			tggtggtgcggctgctgctgctg	0.591													---	281	---	---	7	---					
HAUS8	93323	broad.mit.edu	37	19	17160706	17160707	+	Frame_Shift_Del	DEL	GA	-	-			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:17160706_17160707delGA	uc002nfe.3	-	10	1320_1321	c.1209_1210delTC	c.(1207-1212)tctcgtfs	p.S403fs	HAUS8_uc002nff.3_Frame_Shift_Del_p.S402fs	NM_033417	NP_219485	Q9BT25	HAUS8_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 8 (HAUS8), transcript variant 1, mRNA.	403					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle pole				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						CTCCCTGAACGAGAGAGAGAGG	0.495													---	733	---	---	9	---					
RSPH6A	81492	broad.mit.edu	37	19	46299165	46299167	+	In_Frame_Del	DEL	CCT	-	-	rs62639328	byFrequency	TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr19:46299165_46299167delCCT	uc002pdm.3	-	5	2285_2287	c.2114_2116delAGG	c.(2113-2118)gagggc>ggc	p.E705del	RSPH6A_uc002pdl.3_In_Frame_Del_p.E441del	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA.	705	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						tcctcctcgccctcctcctcctc	0.586													---	734	---	---	13	---					
CTCFL	140690	broad.mit.edu	37	20	56099187	56099187	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chr20:56099187delT	uc010giw.1	-	1	186	c.75delA	c.(73-75)aaafs	p.K25fs	CTCFL_uc010gix.1_Frame_Shift_Del_p.K25fs|CTCFL_uc002xym.2_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjb.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gja.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjc.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjd.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gje.3_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjg.3_Intron|CTCFL_uc010gjf.3_Intron|CTCFL_uc010gjh.2_Frame_Shift_Del_p.K25fs|CTCFL_uc010gji.2_Intron|CTCFL_uc010gjj.2_Frame_Shift_Del_p.K25fs|CTCFL_uc021wfe.1_Frame_Shift_Del_p.K25fs|CTCFL_uc021wff.1_Intron|CTCFL_uc021wfg.1_Intron|CTCFL_uc010gjk.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjl.1_Frame_Shift_Del_p.K25fs	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.	25					DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CCTTCAGGCCTTTTTCCGGCA	0.502													---	988	---	---	7	---					
UTY	7404	broad.mit.edu	37	Y	15448217	15448218	+	Splice_Site	INS	-	A	A			TCGA-HZ-A4BH-01A-11D-A26I-08	TCGA-HZ-A4BH-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	449b0a3a-5c4c-4117-852f-5b732b395e80	f65e31fb-81af-4b3c-82cf-bd086025d453	g.chrY:15448217_15448218insA	uc022ckf.1	-	18	3067	c.2062_splice	c.e18-1	p.G688_splice	UTY_uc004fsw.1_Splice_Site_p.G254_splice|UTY_uc022cjk.1_Splice_Site_p.G339_splice|UTY_uc022cjp.1_Splice_Site_p.G339_splice|UTY_uc022ckv.1_Splice_Site_p.G607_splice|UTY_uc022cjq.1_Intron|UTY_uc022ckw.1_Splice_Site_p.G620_splice|UTY_uc022cjr.1_Splice_Site_p.G451_splice|UTY_uc022ckx.1_Splice_Site_p.G591_splice|UTY_uc022cjs.1_Splice_Site_p.G575_splice|UTY_uc022cky.1_Splice_Site_p.G419_splice|UTY_uc022cjt.1_Splice_Site_p.G339_splice|UTY_uc022ckz.1_Splice_Site_p.G424_splice|UTY_uc022cju.1_Intron|UTY_uc022cla.1_Splice_Site_p.G27_splice|UTY_uc022cjv.1_Splice_Site_p.G508_splice|UTY_uc022clb.1_Splice_Site_p.G260_splice|UTY_uc022cjw.1_Splice_Site_p.G633_splice|UTY_uc022cjx.1_Splice_Site_p.G564_splice|UTY_uc022cjy.1_Splice_Site_p.G73_splice|UTY_uc022cjz.1_Splice_Site_p.G512_splice|UTY_uc022cka.1_Intron|UTY_uc022ckb.1_Intron|UTY_uc022ckc.1_Intron|UTY_uc022ckd.1_Splice_Site_p.G136_splice|UTY_uc022cke.1_Intron|UTY_uc022ckg.1_Splice_Site_p.G636_splice|UTY_uc022ckh.1_Splice_Site_p.G339_splice|UTY_uc022cki.1_Splice_Site_p.G621_splice|UTY_uc022ckj.1_Splice_Site_p.G643_splice|UTY_uc022ckk.1_Splice_Site_p.G467_splice|UTY_uc022ckl.1_Splice_Site_p.G27_splice|UTY_uc022ckm.1_Splice_Site_p.G542_splice|UTY_uc022ckn.1_Splice_Site_p.G607_splice|UTY_uc022cko.1_Splice_Site_p.G512_splice|UTY_uc022ckp.1_Splice_Site_p.G512_splice|UTY_uc004fsx.1_Splice_Site_p.G591_splice|UTY_uc022ckq.1_Splice_Site_p.G636_splice|UTY_uc022cjl.1_Splice_Site_p.G136_splice|UTY_uc022ckr.1_Splice_Site_p.G237_splice|UTY_uc022cjm.1_Splice_Site_p.G636_splice|UTY_uc022cks.1_Splice_Site_p.G467_splice|UTY_uc022cjn.1_Splice_Site_p.G260_splice|UTY_uc022ckt.1_Splice_Site_p.G591_splice|UTY_uc022cjo.1_Splice_Site_p.G379_splice|UTY_uc022cku.1_Splice_Site_p.G339_splice|UTY_uc022clc.1_Splice_Site_p.G621_splice|UTY_uc022cld.1_Splice_Site_p.G483_splice|UTY_uc022cle.1_Splice_Site_p.G408_splice|UTY_uc022clf.1_Splice_Site_p.G467_splice|UTY_uc022clg.1_Splice_Site_p.G339_splice|UTY_uc022clh.1_Splice_Site_p.G558_splice|UTY_uc022cli.1_Splice_Site_p.G607_splice|UTY_uc022clj.1_Splice_Site_p.G355_splice|UTY_uc022clk.1_Splice_Site_p.G152_splice|UTY_uc022cll.1_Splice_Site_p.G392_splice|UTY_uc022clm.1_Splice_Site_p.G243_splice|UTY_uc022cln.1_Splice_Site_p.G379_splice|UTY_uc022clo.1_Splice_Site_p.G591_splice|UTY_uc022clp.1_Splice_Site_p.G419_splice|UTY_uc022clq.1_Splice_Site_p.G561_splice|UTY_uc004fsy.3_Splice_Site_p.G591_splice|UTY_uc022clr.1_Splice_Site_p.G339_splice|UTY_uc022cls.1_Splice_Site_p.G620_splice|UTY_uc022clt.1_Splice_Site_p.G339_splice|UTY_uc022clu.1_Splice_Site_p.G575_splice|UTY_uc022clv.1_Splice_Site_p.G384_splice|UTY_uc022clw.1_Splice_Site_p.G666_splice|UTY_uc022clx.1_Splice_Site_p.G688_splice|UTY_uc022cly.1_Splice_Site_p.G636_splice|UTY_uc022clz.1_Splice_Site_p.G339_splice|UTY_uc022cma.1_Splice_Site_p.G395_splice|UTY_uc022cmb.1_Splice_Site_p.G237_splice|UTY_uc022cng.1_Splice_Site_p.G561_splice|UTY_uc022cnh.1_Intron|UTY_uc004fsz.3_Splice_Site_p.G591_splice|UTY_uc022cmc.1_Splice_Site|UTY_uc022cmd.1_Splice_Site_p.G139_splice|UTY_uc022cme.1_Intron|UTY_uc022cmf.1_Splice_Site_p.G339_splice|UTY_uc022cmg.1_Splice_Site_p.G451_splice|UTY_uc022cmh.1_Splice_Site_p.G575_splice|UTY_uc022cmi.1_Splice_Site_p.G384_splice|UTY_uc022cmj.1_Splice_Site_p.G564_splice|UTY_uc022cmk.1_Splice_Site_p.G136_splice|UTY_uc022cml.1_Splice_Site_p.G652_splice|UTY_uc022cmm.1_Splice_Site_p.G688_splice|UTY_uc022cmn.1_Splice_Site_p.G636_splice|UTY_uc022cmo.1_Splice_Site_p.G306_splice|UTY_uc022cmp.1_Intron|UTY_uc022cmq.1_Intron|UTY_uc022cmr.1_Splice_Site_p.G637_splice|UTY_uc022cms.1_Splice_Site_p.G434_splice|UTY_uc022cmt.1_Splice_Site_p.G467_splice|UTY_uc022cmu.1_Splice_Site_p.G574_splice|UTY_uc022cmv.1_Splice_Site_p.G558_splice|UTY_uc022cmw.1_Splice_Site_p.G379_splice|UTY_uc022cmx.1_Splice_Site_p.G363_splice|UTY_uc022cmy.1_Splice_Site_p.G379_splice|UTY_uc022cmz.1_Splice_Site_p.G346_splice|UTY_uc022cna.1_Splice_Site_p.G386_splice|UTY_uc022cnb.1_Splice_Site_p.G346_splice|UTY_uc022cnc.1_Splice_Site_p.G260_splice|UTY_uc022cnd.1_Splice_Site_p.G658_splice|UTY_uc022cne.1_Intron|UTY_uc022cnf.1_Splice_Site_p.G437_splice|UTY_uc022cni.1_Splice_Site_p.G323_splice|UTY_uc022cnj.1_Splice_Site_p.G339_splice|UTY_uc022cnk.1_Splice_Site_p.G575_splice|UTY_uc022cnl.1_Splice_Site_p.G588_splice|UTY_uc022cnm.1_Splice_Site_p.G659_splice|UTY_uc022cnn.1_Splice_Site_p.G483_splice|UTY_uc022cno.1_Splice_Site_p.G558_splice|UTY_uc022cnp.1_Splice_Site_p.G607_splice|UTY_uc022cnq.1_Splice_Site_p.G591_splice|UTY_uc022cnr.1_Splice_Site_p.G346_splice|UTY_uc022cns.1_Splice_Site_p.G543_splice|UTY_uc022cnt.1_Splice_Site_p.G363_splice|UTY_uc022cnu.1_Splice_Site_p.G666_splice|UTY_uc022cnv.1_Splice_Site_p.G621_splice|UTY_uc022cnw.1_Splice_Site_p.G607_splice|UTY_uc022cnx.1_Splice_Site_p.G379_splice|UTY_uc022cny.1_Splice_Site_p.G126_splice|UTY_uc022cnz.1_Intron|UTY_uc022coa.1_Intron	NM_007125	NP_009056	O14607	UTY_HUMAN	Homo sapiens ubiquitously transcribed tetratricopeptide repeat gene, Y-linked (UTY), transcript variant 3, mRNA.	591					chromatin modification	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(6)	7						ATGAAGCCCCTAAAAAAAAAAA	0.361													---	65	---	---	7	---					
