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
PTCH2	8643	broad.mit.edu	37	1	45288988	45288988	+	Missense_Mutation	SNP	C	C	T	rs142187073	byFrequency	TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr1:45288988C>T	uc010olf.2	-	19	3196	c.3184G>A	c.(3184-3186)Gtg>Atg	p.V1062M	PTCH2_uc021omv.1_Missense_Mutation_p.V1062M|PTCH2_uc010olg.2_Missense_Mutation_p.V760M	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.	1062					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CCATCGGTCACGGGGGCAAAT	0.617									Basal Cell Nevus syndrome			
NRD1	4898	broad.mit.edu	37	1	52260179	52260179	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr1:52260179C>T	uc001ctc.4	-	25	3266	c.2944G>A	c.(2944-2946)Ggt>Agt	p.G982S	NRD1_uc009vzb.3_Missense_Mutation_p.G677S|NRD1_uc001cte.3_Missense_Mutation_p.G850S|NRD1_uc001ctd.4_Missense_Mutation_p.G914S|NRD1_uc001ctf.2_Missense_Mutation_p.G914S|NRD1_uc010ong.1_Non-coding_Transcript	NM_002525	NP_001229290	O43847	NRDC_HUMAN	Homo sapiens nardilysin (N-arginine dibasic convertase) (NRD1), transcript variant 1, mRNA.	913					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TTGGCATCACCCTTGTTCAGA	0.547												
HIPK1	204851	broad.mit.edu	37	1	114500841	114500841	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr1:114500841G>A	uc001eem.3	+	7	2070	c.1909G>A	c.(1909-1911)Gga>Aga	p.G637R	HIPK1_uc001eel.3_Missense_Mutation_p.G637R|HIPK1_uc001een.3_Missense_Mutation_p.G637R|HIPK1_uc001eeo.3_Missense_Mutation_p.G263R|HIPK1_uc001eep.3_Missense_Mutation_p.G243R	NM_198268	NP_938010	Q86Z02	HIPK1_HUMAN	Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA.	637					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTGCAGCCTGGAACCACCCA	0.463												
RYR2	6262	broad.mit.edu	37	1	237777379	237777379	+	Silent	SNP	C	C	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr1:237777379C>T	uc001hyl.1	+	36	5071	c.4951C>T	c.(4951-4953)Ctg>Ttg	p.L1651L		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1651	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGAGGAATTGCTGAAATTTCA	0.463												
OR2T34	127068	broad.mit.edu	37	1	248737350	248737350	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr1:248737350C>T	uc001iep.1	-	0	709	c.709G>A	c.(709-711)Gcc>Acc	p.A237T		NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 34 (OR2T34), mRNA.	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A237P(4)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTGCGGCCGGCGGCAGAATTC	0.562												
MUC2	4583	broad.mit.edu	37	11	1094855	1094855	+	Silent	SNP	C	C	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr11:1094855C>T	uc001lsx.1	+	32	5958	c.5931C>T	c.(5929-5931)taC>taT	p.Y1977Y		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	2029						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ACACCTACTACGCACCAGGTA	0.607												
SLC22A10	387775	broad.mit.edu	37	11	63071595	63071595	+	Missense_Mutation	SNP	G	G	A	rs112720090		TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr11:63071595G>A	uc009yor.3	+	7	1509	c.1301G>A	c.(1300-1302)cGt>cAt	p.R434H	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_Missense_Mutation_p.V228M	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	434						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CAGACCCTGCGTGTGGCTTTG	0.453												
CABP4	57010	broad.mit.edu	37	11	67223870	67223870	+	Silent	SNP	C	C	T	rs139927588		TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr11:67223870C>T	uc001olo.3	+	2	575	c.498C>T	c.(496-498)acC>acT	p.T166T	CABP4_uc001oln.3_Silent_p.T61T	NM_145200	NP_660201	P57796	CABP4_HUMAN	Homo sapiens calcium binding protein 4 (CABP4), mRNA.	166	EF-hand 2.				visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			ACATGCCCACCGAGATGGAGC	0.652												
TRIM49C	642612	broad.mit.edu	37	11	89774448	89774448	+	Silent	SNP	G	G	A	rs77759231	by1000genomes	TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr11:89774448G>A	uc010rua.2	+	7	1418	c.1089G>A	c.(1087-1089)aaG>aaA	p.K363K		NM_001195234	NP_001182163	P0CI26	T49L2_HUMAN	Homo sapiens tripartite motif containing 49-like 2 (TRIM49L2), mRNA.	363	B30.2/SPRY.					intracellular	zinc ion binding			endometrium(3)|kidney(1)|lung(4)	8						TGTATCGGAAGGAGAAGAATC	0.453												
PRB2	653247	broad.mit.edu	37	12	11546320	11546322	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr12:11546320_11546322delTTG	uc010shk.1	-	2	725_727	c.690_692delCAA	c.(688-693)aacaag>aag	p.N230del		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACTTTGGGACTTGTTGTCTCCTT	0.601												
CACNB3	784	broad.mit.edu	37	12	49218469	49218469	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr12:49218469C>T	uc001rsl.2	+	4	884	c.425C>T	c.(424-426)tCc>tTc	p.S142F	CACNB3_uc010slx.2_Missense_Mutation_p.S129F|CACNB3_uc010sly.2_Missense_Mutation_p.S129F|CACNB3_uc010slz.2_Missense_Mutation_p.S141F|CACNB3_uc001rsk.2_5'UTR|CACNB3_uc021qxm.1_Missense_Mutation_p.S101F	NM_000725	NP_000716	P54284	CACB3_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 3 subunit (CACNB3), transcript variant 1, mRNA.	142					axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Verapamil(DB00661)	GGGAACCCTTCCAGCCTGAGT	0.493												
LOC645752	645752	broad.mit.edu	37	15	78207569	78207569	+	Missense_Mutation	SNP	G	G	A	rs56314252	by1000genomes	TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr15:78207569G>A	uc010bky.2	-	17	2107	c.1343C>T	c.(1342-1344)gCa>gTa	p.A448V	LOC645752_uc010umq.1_Missense_Mutation_p.A95V|DQ572823_uc002bcw.1_5'Flank|DQ582073_uc002bcx.1_5'Flank					Homo sapiens golgi autoantigen, golgin subfamily a, 6 pseudogene (LOC645752), non-coding RNA.																		GATCTGCTGTGCAGTGGGGTT	0.572												
TP53	7157	broad.mit.edu	37	17	7578217	7578217	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr17:7578217G>A	uc002gim.2	-	5	826	c.632C>T	c.(631-633)aCt>aTt	p.T211I	TP53_uc002gig.1_Missense_Mutation_p.T211I|TP53_uc002gih.3_Missense_Mutation_p.T211I|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.T79I|TP53_uc010cnf.1_Missense_Mutation_p.T79I|TP53_uc002gii.1_Missense_Mutation_p.T79I|TP53_uc010cni.1_Missense_Mutation_p.T211I|TP53_uc010cnh.1_Missense_Mutation_p.T211I|TP53_uc002gij.2_Missense_Mutation_p.T211I|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.T118I|TP53_uc002gio.2_Missense_Mutation_p.T79I|TP53_uc010vug.2_Missense_Mutation_p.T172I|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	211	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> N (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).		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 drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|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|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|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.T211I(14)|p.T211T(9)|p.0?(8)|p.T211N(8)|p.T211fs*4(5)|p.?(5)|p.N210fs*37(4)|p.T211fs*5(3)|p.D207_R213delDDRNTFR(2)|p.R209fs*35(2)|p.T211fs*36(2)|p.T211_S215delTFRHS(2)|p.D208_V216delDRNTFRHSV(2)|p.N210S(2)|p.R209_R213delRNTFR(2)|p.T211A(2)|p.T211fs*28(2)|p.D207_V216del10(2)|p.T211S(2)|p.K164_P219del(1)|p.N210D(1)|p.E204_N210delEYLDDRN(1)|p.T211_F212insX(1)|p.D208fs*1(1)|p.N210fs*7(1)|p.N210N(1)|p.N210H(1)|p.N210K(1)|p.N210T(1)|p.T211P(1)|p.R209fs*6(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)		ATGTCGAAAAGTGTTTCTGTC	0.532		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)		
DNAH9	1770	broad.mit.edu	37	17	11672470	11672470	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr17:11672470G>A	uc002gne.3	+	37	7444	c.7376G>A	c.(7375-7377)cGt>cAt	p.R2459H	DNAH9_uc010coo.3_Missense_Mutation_p.R1753H	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2459	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAGACCATCCGTGTGTGCTAC	0.612												
SMCR7	125170	broad.mit.edu	37	17	18167560	18167560	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr17:18167560A>G	uc010vxq.2	+	3	906	c.880A>G	c.(880-882)Atg>Gtg	p.M294V	SMCR7_uc002gsu.3_3'UTR|SMCR7_uc002gst.3_Missense_Mutation_p.M283V	NM_148886	NP_631901	Q96C03	SMCR7_HUMAN	Homo sapiens Smith-Magenis syndrome chromosome region, candidate 7 (SMCR7), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	283						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9	all_neural(463;0.228)					CCGGCCCAGCATGGCCTCGGA	0.667												
CCDC144NL	339184	broad.mit.edu	37	17	20799291	20799291	+	Missense_Mutation	SNP	A	A	C			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr17:20799291A>C	uc002gyf.3	-	0	163	c.43T>G	c.(43-45)Tct>Gct	p.S15A	AK057473_uc002gyg.1_Intron|AK057473_uc002gyh.1_Intron	NM_001004306	NP_001004306	Q6NUI1	C144L_HUMAN	Homo sapiens coiled-coil domain containing 144 family, N-terminal like (CCDC144NL), mRNA.	15										large_intestine(3)|lung(3)|skin(1)	7						GGCTTCGGAGACCCCCCAGCC	0.647											OREG0024248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
KIF2B	84643	broad.mit.edu	37	17	51900492	51900492	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr17:51900492C>T	uc002iua.2	+	0	254	c.98C>T	c.(97-99)gCg>gTg	p.A33V		NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	33					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATCTACGTGGCGATCCAGCGC	0.552												
ENPP7	339221	broad.mit.edu	37	17	77705154	77705154	+	Missense_Mutation	SNP	G	G	A	rs150916536		TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr17:77705154G>A	uc002jxa.3	+	1	273	c.253_splice	c.e1+1	p.G85_splice		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 7 (ENPP7), mRNA.	85					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CCTGGTCACCGGTGAGTACTG	0.647												
CELF5	60680	broad.mit.edu	37	19	3282231	3282231	+	Silent	SNP	C	C	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr19:3282231C>T	uc002lxm.3	+	6	895	c.858C>T	c.(856-858)aaC>aaT	p.N286N	CELF5_uc010dtj.2_Silent_p.N286N|CELF5_uc002lxl.2_Silent_p.N286N|CELF5_uc010xhg.2_Non-coding_Transcript|CELF5_uc002lxn.3_Non-coding_Transcript	NM_021938	NP_068757	Q8N6W0	CELF5_HUMAN	Homo sapiens CUGBP, Elav-like family member 5 (CELF5), transcript variant 1, mRNA.	286					mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						TCAGCCTCAACGGGCTGCCTG	0.647												
OR7A10	390892	broad.mit.edu	37	19	14951969	14951969	+	Missense_Mutation	SNP	A	A	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr19:14951969A>T	uc002mzx.1	-	0	721	c.721T>A	c.(721-723)Tgt>Agt	p.C241S		NM_001005190	NP_001005190	O76100	OR7AA_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily A, member 10 (OR7A10), mRNA.	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					TGAGATGCACAGGTGGAAAAT	0.488												
ZNF208	7757	broad.mit.edu	37	19	22156724	22156724	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr19:22156724C>T	uc021urr.1	-	3	1261	c.1112G>A	c.(1111-1113)tGt>tAt	p.C371Y	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GCATTCTTCACATTTGTAGGG	0.383												
KLK6	5653	broad.mit.edu	37	19	51466663	51466663	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr19:51466663G>A	uc002puh.3	-	2	432	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C	KLK6_uc010eoj.3_Intron|KLK6_uc002pui.3_Missense_Mutation_p.R114C|KLK6_uc002puj.3_Missense_Mutation_p.R7C|KLK6_uc010ycn.2_Missense_Mutation_p.R7C|KLK6_uc002pul.3_Missense_Mutation_p.R114C|KLK6_uc002pum.3_Missense_Mutation_p.R7C	NM_001012965	NP_001012983	Q92876	KLK6_HUMAN	Homo sapiens kallikrein-related peptidase 6 (KLK6), transcript variant C, mRNA.	114	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		TTGGCTGGGCGTGCCAGGCGC	0.612												
NLRP11	204801	broad.mit.edu	37	19	56320357	56320357	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr19:56320357G>A	uc010ygf.2	-	4	2330	c.1619C>T	c.(1618-1620)aCg>aTg	p.T540M	NLRP11_uc002qlz.3_Missense_Mutation_p.T441M|NLRP11_uc002qmb.3_Missense_Mutation_p.T441M|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	540							ATP binding	p.T540M(4)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CATATGGTGCGTCAACTTTTC	0.448												
IL36A	27179	broad.mit.edu	37	2	113764258	113764258	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr2:113764258C>T	uc010yxr.2	+	2	208	c.208C>T	c.(208-210)Ctc>Ttc	p.L70F		NM_014440	NP_055255	Q9UHA7	IL36A_HUMAN	Homo sapiens interleukin 36, alpha (IL36A), mRNA.	70					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding			large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						CCTGAATGGACTCAATCTCTG	0.512												
RCAN2	51776	broad.mit.edu	37	2	174131096	174131096	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr2:174131096C>T	uc002uhz.3	+	19	2221	c.2021C>T	c.(2020-2022)tCa>tTa	p.S674L	MLK7-AS1_uc002uib.3_Intron	NM_016653	NP_057737	Q14206	RCAN2_HUMAN	Homo sapiens sterile alpha motif and leucine zipper containing kinase AZK (ZAK), transcript variant 1, mRNA.	0					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						GGTCGATACTCAGACAGAAGC	0.448												
ACADL	33	broad.mit.edu	37	2	211070506	211070506	+	Silent	SNP	A	A	G			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr2:211070506A>G	uc002vdz.4	-	5	846	c.618T>C	c.(616-618)aaT>aaC	p.N206N		NM_001608	NP_001599	P28330	ACADL_HUMAN	Homo sapiens acyl-CoA dehydrogenase, long chain (ACADL), nuclear gene encoding mitochondrial protein, mRNA.	206					carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		TTAATGACCCATTACTGATGA	0.388												
DIDO1	11083	broad.mit.edu	37	20	61512320	61512320	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr20:61512320G>A	uc002ydr.2	-	15	5300	c.4988C>T	c.(4987-4989)cCg>cTg	p.P1663L	DIDO1_uc002yds.2_Missense_Mutation_p.P1663L	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	1663					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GCCGCAAGGCGGTGTGGGCAG	0.731												
PLA2G3	50487	broad.mit.edu	37	22	31534350	31534350	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr22:31534350C>T	uc003aka.3	-	2	823	c.694G>A	c.(694-696)Gtg>Atg	p.V232M		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	Homo sapiens phospholipase A2, group III (PLA2G3), mRNA.	232	Phospholipase A2-like.				cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						GCCACGCCCACGATGTCCGAG	0.617												
TTLL12	23170	broad.mit.edu	37	22	43575872	43575872	+	Nonsense_Mutation	SNP	C	C	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr22:43575872C>T	uc003bdq.3	-	3	743	c.681G>A	c.(679-681)tgG>tgA	p.W227*		NM_015140	NP_055955	Q14166	TTL12_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 12 (TTLL12), mRNA.	227					protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				CCCTCAGGGGCCACAGCAGCG	0.672												
CELSR1	9620	broad.mit.edu	37	22	46931874	46931874	+	Silent	SNP	G	G	A			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr22:46931874G>A	uc003bhw.1	-	0	1194	c.1194C>T	c.(1192-1194)gaC>gaT	p.D398D		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	398	Cadherin 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GCTGGAAGACGTCCCACGCGC	0.682												
NKTR	4820	broad.mit.edu	37	3	42676817	42676817	+	Silent	SNP	A	A	G	rs142015233		TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr3:42676817A>G	uc003clo.3	+	11	1269	c.1122A>G	c.(1120-1122)gcA>gcG	p.A374A	NKTR_uc003clm.1_Silent_p.A121A|NKTR_uc011azp.2_Intron|NKTR_uc003clp.3_Silent_p.A121A|NKTR_uc003clq.1_Silent_p.A264A|NKTR_uc003clr.1_Silent_p.A121A|NKTR_uc003cls.3_Silent_p.A74A	NM_005385	NP_005376	P30414	NKTR_HUMAN	Homo sapiens natural killer-tumor recognition sequence (NKTR), mRNA.	374					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GATTAAGAGCATATAGACCAC	0.388												
KBTBD8	84541	broad.mit.edu	37	3	67054666	67054666	+	Silent	SNP	C	C	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr3:67054666C>T	uc003dmy.3	+	2	1328	c.1275C>T	c.(1273-1275)tgC>tgT	p.C425C	KBTBD8_uc011bfv.2_Intron	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 8 (KBTBD8), mRNA.	425										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		CGACTGTTTGCGCGATGCCAG	0.413												
ROBO1	6091	broad.mit.edu	37	3	78734960	78734960	+	Silent	SNP	G	G	A			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr3:78734960G>A	uc003dqe.2	-	9	1486	c.1278C>T	c.(1276-1278)taC>taT	p.Y426Y	ROBO1_uc003dqc.2_Silent_p.Y390Y|ROBO1_uc003dqd.2_Silent_p.Y390Y|ROBO1_uc003dqb.2_Silent_p.Y387Y|ROBO1_uc010hoh.2_5'UTR|ROBO1_uc003dqf.1_Silent_p.Y105Y	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	426	Ig-like C2-type 4.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TCTGGCAGATGTAATAACCAA	0.393												
DNAJB8	165721	broad.mit.edu	37	3	128181904	128181904	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr3:128181904C>T	uc003ekk.1	-	2	1846	c.185G>A	c.(184-186)cGc>cAc	p.R62H	DNAJB8-AS1_uc003ekl.1_5'Flank|DNAJB8_uc021xdk.1_Missense_Mutation_p.R62H	NM_153330	NP_699161	Q8NHS0	DNJB8_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 8 (DNAJB8), mRNA.	62	J.				protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		ATACAGGGAGCGTTTCTTGGA	0.602												
ARL14	80117	broad.mit.edu	37	3	160395695	160395695	+	Silent	SNP	G	G	A			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr3:160395695G>A	uc003fdq.3	+	0	748	c.561G>A	c.(559-561)gcG>gcA	p.A187A		NM_025047	NP_079323	Q8N4G2	ARL14_HUMAN	Homo sapiens ADP-ribosylation factor-like 14 (ARL14), mRNA.	187					small GTPase mediated signal transduction	intracellular	GTP binding			lung(6)	6			Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)			ACACTTTGGCGTTCTTCAAGC	0.473												
KNG1	3827	broad.mit.edu	37	3	186459456	186459456	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr3:186459456G>A	uc011bsa.2	+	9	1505	c.1271G>A	c.(1270-1272)gGg>gAg	p.G424E	KNG1_uc003fqr.3_Intron|KNG1_uc021xil.1_Intron	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	Homo sapiens kininogen 1 (KNG1), transcript variant 1, mRNA.	424	His-rich.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding	p.E423D(1)		endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	AAAGAACAAGGGCATACTCGT	0.458												
UGT2B10	7365	broad.mit.edu	37	4	69681966	69681966	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr4:69681966C>A	uc003hee.3	+	0	254	c.229C>A	c.(229-231)Cct>Act	p.P77T	UGT2B10_uc011cam.2_Missense_Mutation_p.P77T	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	77					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TGAAGTTTATCCTACATCTTT	0.348												
TLR2	7097	broad.mit.edu	37	4	154625962	154625962	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr4:154625962C>T	uc003inq.3	+	2	2122	c.1903C>T	c.(1903-1905)Ccc>Tcc	p.P635S	TLR2_uc003inr.3_Missense_Mutation_p.P635S|TLR2_uc003ins.3_Missense_Mutation_p.P635S|TLR2_uc021xtl.1_Missense_Mutation_p.P635S	NM_003264	NP_003255	O60603	TLR2_HUMAN	Homo sapiens toll-like receptor 2 (TLR2), mRNA.	635					cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				CAGGAAAGCTCCCAGCAGGAA	0.537												
CDH9	1007	broad.mit.edu	37	5	26902589	26902589	+	Missense_Mutation	SNP	T	T	A			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr5:26902589T>A	uc003jgs.1	-	6	1418	c.1249A>T	c.(1249-1251)Ata>Tta	p.I417L		NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	417	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ACTTACTTTATTAAATTGTTC	0.308												
SPEF2	79925	broad.mit.edu	37	5	35641735	35641735	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr5:35641735C>T	uc003jjo.3	+	2	475	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C	SPEF2_uc003jjn.1_Missense_Mutation_p.R122C|SPEF2_uc003jjq.4_Missense_Mutation_p.R122C	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	122					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.R122H(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AACCATGCAACGTCTGACAAA	0.358												
EFNA5	1946	broad.mit.edu	37	5	106763058	106763058	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr5:106763058G>C	uc003kol.3	-	1	560	c.278C>G	c.(277-279)aCt>aGt	p.T93S	EFNA5_uc010jbr.1_Missense_Mutation_p.T93S	NM_001962	NP_001953	P52803	EFNA5_HUMAN	Homo sapiens ephrin-A5 (EFNA5), mRNA.	93					cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding			large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		CCCTTTGGAAGTGTGGTCGCA	0.488												
KIF4B	285643	broad.mit.edu	37	5	154396474	154396474	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr5:154396474G>A	uc010jih.1	+	0	3215	c.3055G>A	c.(3055-3057)Gaa>Aaa	p.E1019K		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	1019	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTCTTCTTTTGAATATATCCC	0.403												
SLIT3	6586	broad.mit.edu	37	5	168176560	168176560	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr5:168176560C>T	uc010jjg.3	-	18	2474	c.2054G>A	c.(2053-2055)aGt>aAt	p.S685N	SLIT3_uc003mab.3_Missense_Mutation_p.S685N	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	685	LRRCT 3.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGGTTCCCACTGACGATCCG	0.557												
KIF13A	63971	broad.mit.edu	37	6	17788096	17788097	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr6:17788096_17788097delAA	uc003ncg.4	-	26	3431_3432	c.3271_3272delTT	c.(3271-3273)ttafs	p.L1091fs	KIF13A_uc003ncf.3_Frame_Shift_Del_p.L1078fs|KIF13A_uc003nch.4_Frame_Shift_Del_p.L1091fs|KIF13A_uc003nci.4_Frame_Shift_Del_p.L1078fs	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	1091					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TACGCAGTTTAAGTCTTCTTCC	0.366												
COL11A2	1302	broad.mit.edu	37	6	33143356	33143356	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr6:33143356C>T	uc003ocx.1	-	29	2599	c.2371G>A	c.(2371-2373)Gag>Aag	p.E791K	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.E705K|COL11A2_uc003ocz.1_Missense_Mutation_p.E684K	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	791	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						ATCACCTTCTCGCCCATGAGC	0.657												
GPR31	2853	broad.mit.edu	37	6	167571202	167571202	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr6:167571202G>C	uc011egq.2	-	0	118	c.118C>G	c.(118-120)Ctg>Gtg	p.L40V		NM_005299	NP_005290	O00270	GPR31_HUMAN	Homo sapiens G protein-coupled receptor 31 (GPR31), mRNA.	40						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		ACCCGGAACAGGAAGGTCCAC	0.662												
TNKS	8658	broad.mit.edu	37	8	9565981	9565981	+	Silent	SNP	G	G	A			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr8:9565981G>A	uc003wss.3	+	8	1562	c.1557G>A	c.(1555-1557)ccG>ccA	p.P519P	TNKS_uc011kwv.1_Silent_p.P519P|TNKS_uc011kww.2_Silent_p.P282P	NM_003747	NP_003738	O95271	TNKS1_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA.	519					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		TCAAACAACCGCAGTCTCATG	0.328												
KIAA1429	25962	broad.mit.edu	37	8	95531632	95531632	+	Silent	SNP	A	A	G			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr8:95531632A>G	uc003ygo.2	-	8	2165	c.2094T>C	c.(2092-2094)ccT>ccC	p.P698P	KIAA1429_uc003ygp.3_Silent_p.P698P|KIAA1429_uc010maz.2_Non-coding_Transcript	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.	698					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GCAGCACACCAGGGTGAGCAC	0.388												
FOXH1	8928	broad.mit.edu	37	8	145700407	145700407	+	Silent	SNP	C	C	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr8:145700407C>T	uc003zdc.3	-	2	891	c.312G>A	c.(310-312)aaG>aaA	p.K104K		NM_003923	NP_003914	O75593	FOXH1_HUMAN	Homo sapiens forkhead box H1 (FOXH1), mRNA.	104					axial mesoderm development|blood vessel development|cell migration involved in gastrulation|embryonic heart tube anterior/posterior pattern formation|floor plate formation|heart looping|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|specification of organ position|transforming growth factor beta receptor signaling pathway	activin responsive factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|R-SMAD binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			AGAAGTTGCCCTTGGCCTGGG	0.687												
FAM214B	80256	broad.mit.edu	37	9	35108147	35108147	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr9:35108147G>A	uc003zwl.3	-	2	450	c.125C>T	c.(124-126)gCg>gTg	p.A42V	FAM214B_uc003zwm.3_Missense_Mutation_p.A42V|FAM214B_uc003zwn.3_5'UTR|FAM214B_uc003zwo.3_Missense_Mutation_p.A42V|FAM214B_uc003zwp.1_Missense_Mutation_p.A42V|FAM214B_uc010mkk.1_Non-coding_Transcript|FAM214B_uc022bgj.1_Missense_Mutation_p.A42V	NM_025182	NP_079458	Q7L5A3	K1539_HUMAN	Homo sapiens family with sequence similarity 214, member B (FAM214B), mRNA.	42						nucleus											GGGGGATGTCGCCCCCCCTGC	0.652												
FAM102A	399665	broad.mit.edu	37	9	130710434	130710434	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr9:130710434C>T	uc004bsx.2	-	5	928	c.532G>A	c.(532-534)Ggt>Agt	p.G178S	FAM102A_uc004bsw.1_Missense_Mutation_p.G36S|FAM102A_uc004bsy.1_5'UTR	NM_001035254	NP_976050	Q5T9C2	F102A_HUMAN	Homo sapiens family with sequence similarity 102, member A (FAM102A), transcript variant 1, mRNA.	178	Ser-rich.									breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						CTGGTCCCACCACCCTTACAC	0.612												
LAMC3	10319	broad.mit.edu	37	9	133947006	133947006	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr9:133947006C>T	uc004caa.1	+	17	3303	c.3205C>T	c.(3205-3207)Ctt>Ttt	p.L1069F		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	1069	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCATCACCTGCTTCCAGGTAC	0.672												
PPEF1	5475	broad.mit.edu	37	X	18797156	18797156	+	Missense_Mutation	SNP	A	A	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chrX:18797156A>T	uc004cyq.3	+	9	1068	c.587A>T	c.(586-588)tAt>tTt	p.Y196F	PPEF1_uc004cyp.3_Missense_Mutation_p.Y196F|PPEF1_uc004cyr.3_Missense_Mutation_p.Y196F|PPEF1_uc004cys.3_Missense_Mutation_p.Y196F|PPEF1_uc011mja.2_Missense_Mutation_p.Y131F|PPEF1_uc011mjb.2_Missense_Mutation_p.Y140F	NM_006240	NP_006231	O14829	PPE1_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 1 (PPEF1), transcript variant 1, mRNA.	196	Catalytic.				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	p.P195Q(1)		breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					AGGAACCCGTATGTTTTTAAT	0.408												
GPR64	10149	broad.mit.edu	37	X	19025360	19025360	+	Frame_Shift_Del	DEL	G	G	-			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chrX:19025360delG	uc004cyx.3	-	19	1924	c.1682delC	c.(1681-1683)ccgfs	p.P561fs	GPR64_uc004cze.3_Frame_Shift_Del_p.P531fs|GPR64_uc004cza.3_Frame_Shift_Del_p.P539fs|GPR64_uc004czf.3_Frame_Shift_Del_p.P523fs|GPR64_uc004cyy.3_Frame_Shift_Del_p.P558fs|GPR64_uc004czc.3_Frame_Shift_Del_p.P545fs|GPR64_uc004cyz.3_Frame_Shift_Del_p.P547fs|GPR64_uc004czb.3_Frame_Shift_Del_p.P561fs|GPR64_uc004czd.3_Frame_Shift_Del_p.P537fs|GPR64_uc004cyw.3_Frame_Shift_Del_p.P545fs|GPR64_uc010nfj.3_Intron	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN	Homo sapiens G protein-coupled receptor 64 (GPR64), transcript variant 1, mRNA.	561					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					CACCTGGCTCGGGTTGATGTG	0.502												
NXF5	55998	broad.mit.edu	37	X	101096651	101096651	+	Frame_Shift_Del	DEL	G	G	-			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chrX:101096651delG	uc011mrk.1	-	4	595	c.235delC	c.(235-237)caafs	p.Q79fs	NXF5_uc004eih.1_Non-coding_Transcript|NXF5_uc004eii.1_Non-coding_Transcript|NXF5_uc004eij.1_Non-coding_Transcript|NXF5_uc004eik.1_Intron|NXF5_uc004eil.1_Intron	NM_032946	NP_116564	Q9H1B4	NXF5_HUMAN	Homo sapiens nuclear RNA export factor 5 (NXF5), transcript variant 1, mRNA.	79	RRM.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						CACACCTTTTGGTTCTCATCA	0.488												
F8	2157	broad.mit.edu	37	X	154159916	154159916	+	Missense_Mutation	SNP	G	G	A	rs137852435		TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chrX:154159916G>A	uc004fmt.3	-	13	2320	c.2149C>T	c.(2149-2151)Cgg>Tgg	p.R717W		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	717	F5/8 type A 2.|Plastocyanin-like 4.		R -> L (in HEMA; mild).|R -> W (in HEMA; mild).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CCTCTGTTCCGAAAGTCTGAG	0.423