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
CGN	57530	broad.mit.edu	37	1	151491671	151491671	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr1:151491671G>A	uc009wmw.3	+	1	820	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	Homo sapiens cingulin (CGN), mRNA.	220	Head.|Interacts with ZO-2.					myosin complex|tight junction	actin binding|motor activity	p.E225E(1)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CACCTTTGAGGAACGGGAGCG	0.627000														95			12		0	0	0.000151284	0	0
MIER3	166968	broad.mit.edu	37	5	56219660	56219660	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr5:56219660C>T	uc003jrc.1	-	12	1093	c.1068_splice	c.e12-1	p.T356_splice	MIER3_uc003jqz.1_Splice_Site_p.T288_splice|MIER3_uc003jrd.1_Splice_Site_p.T351_splice|MIER3_uc003jra.1_Splice_Site_p.T350_splice|MIER3_uc003jrb.1_Splice_Site_p.T175_splice|SETD9_uc021xyu.1_Intron	NM_152622	NP_689835	Q7Z3K6	MIER3_HUMAN	Homo sapiens mesoderm induction early response 1, family member 3 (MIER3), mRNA.	351					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		CCATATAGTCCCTGAAAAACA	0.418000														162			17		0	0	0.000958276	0	0
INTS1	26173	broad.mit.edu	37	7	1538686	1538686	+	Silent	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr7:1538686G>A	uc003skn.2	-	7	1163	c.1062C>T	c.(1060-1062)ctC>ctT	p.L354L	INTS1_uc003skq.2_Silent_p.L354L	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	Homo sapiens integrator complex subunit 1 (INTS1), mRNA.	354					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		AGGTGGAGGTGAGGAGCCGCA	0.677000														7			4		0	0	0.000602214	0	0
SEPT7	989	broad.mit.edu	37	7	35930362	35930362	+	Silent	SNP	T	C	C			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr7:35930362T>C	uc010kxc.3	+	9	1175	c.951T>C	c.(949-951)taT>taC	p.Y317Y	SEPT7_uc011kat.2_Silent_p.Y317Y|SEPT7_uc011kau.2_Silent_p.Y283Y|SEPT7_uc011kav.2_Silent_p.Y266Y	NM_001788	NP_001779	Q16181	SEPT7_HUMAN	Homo sapiens septin 7 (SEPT7), transcript variant 1, mRNA.	319					cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity	p.Y320Y(3)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						CTGTGACTTATAATGGAGTTG	0.323000														66			4		0	0	0.00024832	0	0
IGSF21	84966	broad.mit.edu	37	1	18691797	18691797	+	Silent	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr1:18691797G>A	uc001bau.2	+	5	1004	c.621G>A	c.(619-621)caG>caA	p.Q207Q	IGSF21_uc001bav.2_Silent_p.Q28Q	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA.	207						extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		GCCCCCTACAGGACAGCAGGC	0.607000														39			16		0	0	0.00074312	0	0
CCDC8	83987	broad.mit.edu	37	19	46914505	46914505	+	Silent	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr19:46914505C>T	uc002pep.3	-	0	2415	c.1563G>A	c.(1561-1563)ctG>ctA	p.L521L		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	Homo sapiens coiled-coil domain containing 8 (CCDC8), mRNA.	521						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CCTCGGCCCTCAGCACCCTGA	0.647000														61			9		0	0	0.000442599	0	0
FXYD6-FXYD2	100533181	broad.mit.edu	37	11	117711882	117711882	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr11:117711882T>C	uc021qqy.1	-	4	635	c.190A>G	c.(190-192)Agt>Ggt	p.S64G	FXYD6-FXYD2_uc021qqz.1_Intron|FXYD6-FXYD2_uc001prp.2_Missense_Mutation_p.S64G|FXYD6-FXYD2_uc001prr.2_Missense_Mutation_p.S64G|FXYD6-FXYD2_uc001prq.2_Missense_Mutation_p.S64G|FXYD6-FXYD2_uc001pro.2_Missense_Mutation_p.S64G|FXYD6-FXYD2_uc021qra.1_Missense_Mutation_p.S64G|FXYD6-FXYD2_uc021qrb.1_5'Flank	NM_001204268	NP_001191197			Homo sapiens FXYD6-FXYD2 readthrough (FXYD6-FXYD2), transcript variant 1, mRNA.																		TGATTGAAACTGCACTTGCAC	0.577000														19			9		0	0	0.00010058	0	0
FAT3	120114	broad.mit.edu	37	11	92531411	92531411	+	Silent	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr11:92531411C>T	uc001pdj.4	+	8	5249	c.5232C>T	c.(5230-5232)acC>acT	p.T1744T		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1744	Cadherin 15.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTCAGGCCACCAATATGGCAG	0.423000										TCGA Ovarian(4;0.039)				391			104		0	0	0.000781405	0	0
FANCD2	2177	broad.mit.edu	37	3	10140621	10140621	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr3:10140621C>T	uc003buw.3	+	42	4481	c.4403C>T	c.(4402-4404)cCa>cTa	p.P1468L	FANCD2_uc003bux.1_Intron|FANCD2_uc003buy.1_Intron|FANCD2_uc010hcw.1_Intron|C3orf24_uc003buz.3_Intron	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.	1468					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TGCCCATTTCCATTCCCTCCA	0.403000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					60			22		0	0	0.00047179	0	0
CLDN25	644672	broad.mit.edu	37	11	113650669	113650669	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr11:113650669G>T	uc009yyw.1	+	0	152	c.152G>T	c.(151-153)tGg>tTg	p.W51L		NM_001101389	NP_001094859	C9JDP6	CLD25_HUMAN	Homo sapiens claudin 25 (CLDN25), mRNA.	51						integral to membrane|tight junction	structural molecule activity			large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						ATGGGGATTTGGGAGGTCTGC	0.562000														68			10		2.17888e-05	0.000274526	0.000442599	1	0
WNT3A	89780	broad.mit.edu	37	1	228238595	228238595	+	Silent	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr1:228238595C>T	uc001hrp.2	+	2	659	c.552C>T	c.(550-552)aaC>aaT	p.N184N	WNT3A_uc001hrq.2_Silent_p.N184N	NM_033131	NP_149122	P56704	WNT3A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 3A (WNT3A), mRNA.	184					Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway|axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				CAGCCATGAACCGCCACAACA	0.647000														18			11		0	0	0.000673444	0	0
NOL4	8715	broad.mit.edu	37	18	31523129	31523130	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr18:31523129_31523130GG>AA	uc010dmi.3	-	8	1739_1740	c.1441_1442CC>TT	c.(1441-1443)cct>TTt	p.P481F	NOL4_uc010xbs.2_Missense_Mutation_p.P196F|NOL4_uc002kxr.4_Missense_Mutation_p.P253F|NOL4_uc010xbt.2_Missense_Mutation_p.P407F|NOL4_uc010dmh.3_Missense_Mutation_p.P343F|NOL4_uc010xbu.2_Missense_Mutation_p.P417F|NOL4_uc002kxt.4_Intron|NOL4_uc010xbv.1_Missense_Mutation_p.P166F	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	481						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						AAGGTGGGAAGGAATAGGTCGA	0.416000														44			18		0	0	6.4e-05	0	0
OR10A3	26496	broad.mit.edu	37	11	7960726	7960727	+	Missense_Mutation	DNP	GA	AC	AC			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr11:7960726_7960727GA>AC	uc010rbi.2	-	0	341_342	c.341_342TC>GT	c.(340-342)ctc>cGT	p.L114R		NM_001003745	NP_001003745	P58181	O10A3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 3 (OR10A3), mRNA.	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCGCTCCCAGGAGAAAACATTC	0.406000														22			9		0	0	6.4e-05	0	0
POM121L12	285877	broad.mit.edu	37	7	53103782	53103782	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr7:53103782G>A	uc003tpz.3	+	0	434	c.418G>A	c.(418-420)Ggg>Agg	p.G140R		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	140								p.I139M(1)|p.I139I(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GGTGACCATCGGGATCGCGCC	0.716000														37			8		0	0	0.000274275	0	0
PTBP3	9991	broad.mit.edu	37	9	115013260	115013260	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr9:115013260G>A	uc004bfv.3	-	6	1036	c.853C>T	c.(853-855)Cct>Tct	p.P285S	MIR3134_uc022bma.1_Intron|PTBP3_uc004bfx.3_Missense_Mutation_p.P282S|PTBP3_uc004bfw.3_Missense_Mutation_p.P279S|PTBP3_uc011lwu.2_Missense_Mutation_p.P251S|PTBP3_uc004bfz.3_Missense_Mutation_p.P251S|PTBP3_uc004bfy.3_Missense_Mutation_p.P184S|5S_rRNA_uc022bmb.1_5'Flank	NM_001244898	NP_001231827	O95758	ROD1_HUMAN	Homo sapiens polypyrimidine tract binding protein 3 (PTBP3), transcript variant 6, mRNA.	279					anatomical structure morphogenesis|mRNA processing	nucleus	RNA binding|nucleotide binding										TCACCAGTAGGAAGGTCTAAG	0.448000														117			10		0	0	0.000442599	0	0
SLC39A12	221074	broad.mit.edu	37	10	18276511	18276511	+	Silent	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr10:18276511C>T	uc001ipo.2	+	6	1473	c.1200C>T	c.(1198-1200)atC>atT	p.I400I	SLC39A12_uc001ipn.2_Silent_p.I400I|SLC39A12_uc001ipp.2_Silent_p.I400I|SLC39A12_uc010qck.1_Silent_p.I266I	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 12 (SLC39A12), transcript variant 1, mRNA.	400					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.L399F(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						ACAGGCTTATCTTACAGCTGT	0.542000														63			22		0	0	0.000375601	0	0
GPRC6A	222545	broad.mit.edu	37	6	117113438	117113438	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr6:117113438G>T	uc003pxj.1	-	5	2670	c.2648C>A	c.(2647-2649)cCc>cAc	p.P883H	GPRC6A_uc003pxk.1_Missense_Mutation_p.P708H|GPRC6A_uc003pxl.1_Missense_Mutation_p.P812H	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	883					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		ACTAGAGCTGGGATTGGTCAT	0.468000														70			14		4.3838e-07	5.5887e-06	0.000151284	1	0
RGMB	285704	broad.mit.edu	37	5	98115338	98115338	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr5:98115338T>A	uc003knc.3	+	3	716	c.314T>A	c.(313-315)gTg>gAg	p.V105E	RGMB_uc003knb.2_Missense_Mutation_p.V105E	NM_001012761	NP_001012779	Q6NW40	RGMB_HUMAN	Homo sapiens RGM domain family, member B (RGMB), mRNA.	64					BMP signaling pathway|axon guidance|cell adhesion|positive regulation of transcription, DNA-dependent	ER-Golgi intermediate compartment|anchored to plasma membrane|membrane raft	identical protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		ACGGACTTCGTGTCCCTGACT	0.493000														115			74		0	0	0.000781405	0	0
LOC729862	729862	broad.mit.edu	37	5	28927107	28927107	+	RNA	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr5:28927107G>A	uc003jgz.1	+	0		c.131G>A								Homo sapiens striatin, calmodulin binding protein pseudogene (LOC729862), non-coding RNA.																		GAGCAGAAGGGAGGCTCCAAG	0.512000														11			6		0	0	3.59834e-05	0	0
AHR	196	broad.mit.edu	37	7	17373557	17373557	+	Silent	SNP	T	C	C			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr7:17373557T>C	uc011jxz.1	+	6	1340	c.727T>C	c.(727-729)Tta>Cta	p.L243L		NM_001621	NP_001612	P35869	AHR_HUMAN	Homo sapiens aryl hydrocarbon receptor (AHR), mRNA.	243					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					CCAAGGGAAGTTAAAGTATCT	0.348000														43			49		0	0	0.000781405	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					50			56		0	0	0.000781405	0	0
VHLL	391104	broad.mit.edu	37	1	156268786	156268786	+	Silent	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr1:156268786G>A	uc001fok.3	-	0	643	c.195C>T	c.(193-195)atC>atT	p.I65I		NM_001004319	NP_001004319	Q6RSH7	VHLL_HUMAN	Homo sapiens von Hippel-Lindau tumor suppressor-like (VHLL), mRNA.	65	Beta-domain.				protein ubiquitination	nucleus				endometrium(1)|lung(2)|ovary(1)	4	Hepatocellular(266;0.158)					CAGGCAGCACGATTCGTGGGC	0.607000														29			11		0	0	0.000673444	0	0
PRB2	653247	broad.mit.edu	37	12	11546316	11546316	+	Silent	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr12:11546316G>A	uc010shk.1	-	2	731	c.696C>T	c.(694-696)tcC>tcT	p.S232S		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)			GGGCACTTTGGGACTTGTTGT	0.602000														423			78		0	0	0.000781405	0	0
KYNU	8942	broad.mit.edu	37	2	143713800	143713800	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr2:143713800G>A	uc010fnm.3	+	6	680	c.464G>A	c.(463-465)cGa>cAa	p.R155Q	KYNU_uc002tvk.3_Missense_Mutation_p.R155Q|KYNU_uc002tvl.3_Missense_Mutation_p.R155Q	NM_001199241	NP_001186170	Q16719	KYNU_HUMAN	Homo sapiens kynureninase (KYNU), transcript variant 3, mRNA.	155					NAD biosynthetic process|anthranilate metabolic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	ACGCCAAAACGATATAAAATT	0.308000														66			16		0	0	0.000422831	0	0
FBXL5	26234	broad.mit.edu	37	4	15627133	15627133	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr4:15627133C>A	uc003goc.2	-	8	1717	c.1592G>T	c.(1591-1593)aGt>aTt	p.S531I	FBXL5_uc010idw.2_Missense_Mutation_p.S444I|FBXL5_uc003gob.2_Missense_Mutation_p.S393I|FBXL5_uc010idx.2_Missense_Mutation_p.S530I|FBXL5_uc003god.2_Missense_Mutation_p.S514I|FBXL5_uc010idy.2_Missense_Mutation_p.S531I	NM_012161	NP_036293	Q9UKA1	FBXL5_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 5 (FBXL5), transcript variant 1, mRNA.	531					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|iron ion homeostasis	SCF ubiquitin ligase complex|perinuclear region of cytoplasm	iron ion binding|protein binding|ubiquitin-protein ligase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						CCAACAGACACTAGTCCTTAG	0.413000														29			20		2.4624e-09	3.19592e-08	0.000132079	1	0
GPR126	57211	broad.mit.edu	37	6	142721714	142721714	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr6:142721714T>C	uc010khe.3	+	10	2071	c.1660T>C	c.(1660-1662)Ttt>Ctt	p.F554L	GPR126_uc010khc.3_Missense_Mutation_p.F554L|GPR126_uc010khd.3_Missense_Mutation_p.F526L|GPR126_uc010khf.3_Missense_Mutation_p.F526L	NM_198569	NP_940971	Q86SQ4	GP126_HUMAN	Homo sapiens G protein-coupled receptor 126 (GPR126), transcript variant b1, mRNA.	554					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		CAAGCCTGGCTTTTCTGCTTC	0.458000														20			6		0	0	8.12818e-05	0	0
SLC16A14	151473	broad.mit.edu	37	2	230910937	230910937	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr2:230910937G>A	uc002vqd.2	-	3	1364	c.905C>T	c.(904-906)tCg>tTg	p.S302L	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.3_Missense_Mutation_p.S302L|SLC16A14_uc002vqf.3_Missense_Mutation_p.S302L	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA.	302						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		AAAGTAGCCCGAATACCAGTC	0.493000														26			12		0	0	0.00010058	0	0
ABCC3	8714	broad.mit.edu	37	17	48757215	48757215	+	Silent	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr17:48757215C>T	uc002isl.3	+	25	3842	c.3762C>T	c.(3760-3762)atC>atT	p.I1254I	ABCC3_uc002isn.3_Silent_p.I8I	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	1254					bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	AATCTAACATCGTGGCTGTGG	0.522000														46			23		0	0	0.000586117	0	0
FAM179B	23116	broad.mit.edu	37	14	45433494	45433494	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr14:45433494T>A	uc001wvw.3	+	0	2079	c.1870T>A	c.(1870-1872)Tgt>Agt	p.C624S	FAM179B_uc001wvv.3_Missense_Mutation_p.C624S|FAM179B_uc010anc.3_Non-coding_Transcript|KLHL28_uc001wvr.3_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.C624S|FAM179B_uc001wvu.3_Missense_Mutation_p.C624S	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	Homo sapiens family with sequence similarity 179, member B (FAM179B), mRNA.	624							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GAGTGCACACTGTCACTGTGG	0.483000														35			13		0	0	0.00010058	0	0
MUC17	140453	broad.mit.edu	37	7	100675854	100675855	+	Missense_Mutation	DNP	CA	AC	AC			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr7:100675854_100675855CA>AC	uc003uxp.1	+	2	1210_1211	c.1157_1158CA>AC	c.(1156-1158)tca>tAC	p.S386Y	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	386	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ATGCTAACCTCAACTCTTAGTG	0.455000														346			19		0	0	6.4e-05	0	0
PDS5B	23047	broad.mit.edu	37	13	33333804	33333804	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr13:33333804G>C	uc010abf.3	+	28	3534	c.3348G>C	c.(3346-3348)atG>atC	p.M1116I	PDS5B_uc010abg.3_Non-coding_Transcript	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) (PDS5B), mRNA.	1116					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		CTCCTGAAATGAAATCATTTT	0.294000														44			12		0	0	0.000308642	0	0
VPS13D	55187	broad.mit.edu	37	1	12359295	12359295	+	Silent	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr1:12359295C>T	uc001atv.3	+	24	6211	c.6070C>T	c.(6070-6072)Ctg>Ttg	p.L2024L	VPS13D_uc001atw.3_Silent_p.L2024L|VPS13D_uc001atx.3_Silent_p.L1212L	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	2024					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ACGGGTTCTCCTGGATATTGA	0.418000														45			42		0	0	0.000781405	0	0
HIVEP1	3096	broad.mit.edu	37	6	12122047	12122047	+	Silent	SNP	T	G	G			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr6:12122047T>G	uc003nac.3	+	3	2198	c.2019T>G	c.(2017-2019)tcT>tcG	p.S673S	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	673					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GTACGGATTCTGGTTACTTTT	0.502000														27			14		0	0	0.000308642	0	0
EYA4	2070	broad.mit.edu	37	6	133836476	133836476	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr6:133836476A>G	uc011ecs.2	+	16	1853	c.1537A>G	c.(1537-1539)Aag>Gag	p.K513E	EYA4_uc011ecq.2_Missense_Mutation_p.K453E|EYA4_uc011ecr.2_Missense_Mutation_p.K459E|EYA4_uc003qec.4_Missense_Mutation_p.K507E|EYA4_uc003qed.4_Missense_Mutation_p.K507E|EYA4_uc003qee.4_Missense_Mutation_p.K484E|BC041459_uc003qeg.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA.	507					DNA repair|anatomical structure morphogenesis|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TGGCCCTGCCAAGAGGGATGC	0.433000														81			35		0	0	0.000814825	0	0
UBE3B	89910	broad.mit.edu	37	12	109971326	109971326	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr12:109971326C>T	uc001top.3	+	26	3581	c.2978C>T	c.(2977-2979)cCa>cTa	p.P993L	UBE3B_uc001toq.3_Missense_Mutation_p.P993L|UBE3B_uc001tos.3_Missense_Mutation_p.P420L|UBE3B_uc001tot.3_Missense_Mutation_p.P111L|UBE3B_uc010sxp.1_Missense_Mutation_p.P111L	NM_130466	NP_904324	Q7Z3V4	UBE3B_HUMAN	Homo sapiens ubiquitin protein ligase E3B (UBE3B), transcript variant 1, mRNA.	993	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CTCAAGCCTCCATTCTCCATC	0.632000														80			5		0	0	0.000602214	0	0
ENOX1	55068	broad.mit.edu	37	13	43843642	43843642	+	Silent	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr13:43843642G>A	uc001uza.4	-	12	1818	c.1518C>T	c.(1516-1518)tcC>tcT	p.S506S	ENOX1_uc001uzc.4_Silent_p.S506S|ENOX1_uc001uzb.4_Silent_p.S506S	NM_001127615	NP_060463	Q8TC92	ENOX1_HUMAN	Homo sapiens ecto-NOX disulfide-thiol exchanger 1 (ENOX1), transcript variant 2, mRNA.	506					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		CTTGTGTATGGGACTGCTCTT	0.398000														116			49		0	0	0.000781405	0	0
ZNF436	80818	broad.mit.edu	37	1	23688771	23688771	+	Silent	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr1:23688771C>T	uc001bgt.3	-	2	1485	c.1104G>A	c.(1102-1104)ggG>ggA	p.G368G	ZNF436_uc001bgu.3_Silent_p.G368G	NM_030634	NP_085137	Q9C0F3	ZN436_HUMAN	Homo sapiens zinc finger protein 436 (ZNF436), transcript variant 2, mRNA.	368					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		TGAAGCTTTTCCCACAAGCAT	0.463000														61			47		0	0	0.000680045	0	0
LYST	1130	broad.mit.edu	37	1	235973516	235973516	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr1:235973516G>A	uc001hxj.2	-	4	777	c.602C>T	c.(601-603)cCc>cTc	p.P201L	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Missense_Mutation_p.P201L	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	201					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTTAGCTTTGGGGTGGTCTTG	0.423000														142			7		0	0	0.000157383	0	0
OR56A5	390084	broad.mit.edu	37	11	5989553	5989553	+	Silent	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr11:5989553G>A	uc010qzu.2	-	0	172	c.172C>T	c.(172-174)Ctg>Ttg	p.L58L		NM_001146033	NP_001139505	P0C7T3	O56A5_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 5 (OR56A5), mRNA.	58						integral to membrane|plasma membrane	olfactory receptor activity										GGCTGGTGCAGAGAGGCTTCC	0.602000														30			4		0	0	0.000602214	0	0
DSCAM	1826	broad.mit.edu	37	21	41465790	41465790	+	Silent	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr21:41465790C>T	uc002yyq.1	-	20	4160	c.3708G>A	c.(3706-3708)gaG>gaA	p.E1236E	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1236	Fibronectin type-III 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AGGCCTCAAACTCGCTGATCA	0.458000														31			12		0	0	0.000219431	0	0
SORCS2	57537	broad.mit.edu	37	4	7719824	7719824	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr4:7719824C>T	uc003gkb.4	+	17	2338	c.2338C>T	c.(2338-2340)Ccc>Tcc	p.P780S	SORCS2_uc011bwi.2_Missense_Mutation_p.P608S	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 2 (SORCS2), mRNA.	780						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						CCTCACGCCGCCCCGGGGCCT	0.647000														21			8		0	0	0.000274275	0	0
DDX53	168400	broad.mit.edu	37	X	23018475	23018475	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chrX:23018475A>T	uc004daj.3	+	0	398	c.301A>T	c.(301-303)Atg>Ttg	p.M101L		NM_182699	NP_874358	Q86TM3	DDX53_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 (DDX53), mRNA.	101	KH.					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						CAATAGGGAAATGAAAGCAAA	0.368000														26			37		0	0	0.000953801	0	0
ARG1	383	broad.mit.edu	37	6	131904954	131904954	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr6:131904954C>T	uc003qcp.2	+	7	954	c.875C>T	c.(874-876)aCa>aTa	p.T292I	ARG1_uc003qco.2_3'UTR|ARG1_uc010kfm.2_Missense_Mutation_p.T300I|MED23_uc003qcq.3_Intron	NM_000045	NP_000036	P05089	ARGI1_HUMAN	Homo sapiens arginase, liver (ARG1), transcript variant 2, mRNA.	292					arginine catabolic process|urea cycle	cytosol	arginase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3)	14	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	L-Ornithine(DB00129)	GTAACTCGAACAGTGAACACA	0.428000														23			7		0	0	8.12818e-05	0	0
TM9SF4	9777	broad.mit.edu	37	20	30745665	30745665	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr20:30745665G>T	uc002wxj.2	+	13	1633	c.1398G>T	c.(1396-1398)ttG>ttT	p.L466F	TM9SF4_uc010zts.1_Missense_Mutation_p.L373F|TM9SF4_uc002wxk.2_Missense_Mutation_p.L449F	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	Homo sapiens transmembrane 9 superfamily protein member 4 (TM9SF4), mRNA.	466						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TCGTCTACTTGGGCTACTACT	0.597000														125			7		3.86212e-05	0.000485186	0.000673444	1	0
GRIN3A	116443	broad.mit.edu	37	9	104432571	104432571	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr9:104432571C>T	uc004bbp.2	-	2	2724	c.2123G>A	c.(2122-2124)cGa>cAa	p.R708Q	GRIN3A_uc004bbq.1_Missense_Mutation_p.R708Q	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	708					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	ACTTCTATTTCGCCCCTTGGG	0.463000														109			11		0	0	0.000151284	0	0
SPAG5	10615	broad.mit.edu	37	17	26938597	26938597	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr17:26938597G>A	uc010crq.2	-	8	831	c.799C>T	c.(799-801)Ctt>Ttt	p.L267F	SPAG5_uc010waq.1_Intron|SPAG5-AS1_uc021tts.1_Intron|SPAG5_uc010war.1_Intron|SPAG5_uc021ttt.1_Missense_Mutation_p.L267F	NM_001174103	NP_001167574	Q96R06	SPAG5_HUMAN	Homo sapiens uncharacterized serine/threonine-protein kinase SgK494 (SGK494), mRNA.	0					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					ATGTACTGAAGAGTGCCACAG	0.493000														113			63		0	0	0.000781405	0	0
LOC100132352	100132352	broad.mit.edu	37	9	68728848	68728848	+	RNA	SNP	A	C	C			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr9:68728848A>C	uc022bhu.1	+	2		c.633A>C			LOC100132352_uc010mnp.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC100132352), non-coding RNA.																		aagaagaaaaagagcaaagat	0.279000														40			8		0	0	0.000274275	0	0
ZNF80	7634	broad.mit.edu	37	3	113955133	113955133	+	Silent	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr3:113955133C>T	uc010hqo.3	-	0	1293	c.789G>A	c.(787-789)caG>caA	p.Q263Q	ZNF80_uc003ebf.3_Non-coding_Transcript	NM_007136	NP_009067	P51504	ZNF80_HUMAN	Homo sapiens zinc finger protein 80 (ZNF80), mRNA.	263						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				GGATCTTACTCTGTTGGGCAA	0.413000														45			17		0	0	0.000175454	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887606	12887606	+	Missense_Mutation	SNP	C	G	G	rs58074988		TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr1:12887606C>G	uc001auk.2	-	2	447	c.251G>C	c.(250-252)tGc>tCc	p.C84S		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	84								p.C84S(2)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ATTGAGGAAGCACCCATGGGC	0.483000														293			7		0	0	0.000274275	0	0
RPS11	6205	broad.mit.edu	37	19	50001293	50001293	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr19:50001293C>T	uc002pob.1	+	3	423	c.343C>T	c.(343-345)Ccc>Tcc	p.P115S		NM_001015	NP_001006	P62280	RS11_HUMAN	Homo sapiens ribosomal protein S11 (RPS11), mRNA.	115					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|rRNA binding|structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	7		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245)		ACACCTGTCCCCCTGCTTCAG	0.557000														41			12		0	0	0.000219431	0	0
RAD50	10111	broad.mit.edu	37	5	131931281	131931281	+	Silent	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr5:131931281C>T	uc003kxi.3	+	12	2387	c.1986C>T	c.(1984-1986)gcC>gcT	p.A662A	RAD50_uc003kxh.3_Silent_p.A523A	NM_005732	NP_005723	Q92878	RAD50_HUMAN	Homo sapiens RAD50 homolog (S. cerevisiae) (RAD50), mRNA.	662	Zinc-hook.				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGGCTGGAGCCACAGCAGTTT	0.373000								Homologous recombination						17			13		0	0	0.000219431	0	0
GBP1	2633	broad.mit.edu	37	1	89522681	89522681	+	Silent	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr1:89522681C>T	uc001dmx.2	-	6	1231	c.1011G>A	c.(1009-1011)caG>caA	p.Q337Q		NM_002053	NP_002044	P32455	GBP1_HUMAN	Homo sapiens guanylate binding protein 1, interferon-inducible (GBP1), mRNA.	337					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		GGCCCATCTGCTGTTCATAGT	0.567000														71			5		0	0	3.59834e-05	0	0
LGALS12	85329	broad.mit.edu	37	11	63279257	63279257	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr11:63279257C>T	uc001nxc.2	+	6	1002	c.661C>T	c.(661-663)Ctc>Ttc	p.L221F	LGALS12_uc001nxa.2_Missense_Mutation_p.L220F|LGALS12_uc001nxb.2_Missense_Mutation_p.L211F|LGALS12_uc001nxd.2_Missense_Mutation_p.L159F|LGALS12_uc001nxe.2_Missense_Mutation_p.L150F|LGALS12_uc009yot.2_Missense_Mutation_p.L180F	NM_001142535	NP_001136007	Q96DT0	LEG12_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 12 (LGALS12), transcript variant 1, mRNA.	220	Galectin 2.				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						TCCCCAGGGTCTCTCGCCTGG	0.592000														30			20		0	0	0.00047179	0	0
OR4A47	403253	broad.mit.edu	37	11	48511051	48511051	+	Nonsense_Mutation	SNP	C	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr11:48511051C>A	uc010rhx.2	+	0	707	c.707C>A	c.(706-708)tCa>tAa	p.S236*		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA.	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S236*(2)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						AAAGCCCTCTCAACCTGCAGT	0.433000														101			14		1.5842e-08	2.04995e-07	0.000151284	1	0
GNB2L1	10399	broad.mit.edu	37	5	180666103	180666103	+	Silent	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr5:180666103G>A	uc003mni.1	-	4	706	c.600C>T	c.(598-600)gtC>gtT	p.V200V	GNB2L1_uc003mnj.1_Silent_p.V154V|GNB2L1_uc011dhk.1_Silent_p.V200V|GNB2L1_uc010jls.3_3'UTR	NM_006098	NP_006089	P63244	GBLP_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1 (GNB2L1), mRNA.	200					apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|positive regulation of GTPase activity|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process	cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit	SH2 domain binding|ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding			lung(3)|skin(2)	5	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)		CATCTGGAGAGACAGTCACCG	0.537000														76			44		0	0	0.000781405	0	0
SERPINB3	6317	broad.mit.edu	37	18	61322970	61322970	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr18:61322970C>T	uc002lji.3	-	7	1238	c.1094G>A	c.(1093-1095)tGt>tAt	p.C365Y	SERPINB3_uc002ljg.3_Intron|SERPINB3_uc010dqa.3_Missense_Mutation_p.C313Y	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	365					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	p.H364D(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						AGGGTGATTACAATGGAACTC	0.463000														86			27		0	0	0.000586117	0	0
RBM42	79171	broad.mit.edu	37	19	36128163	36128163	+	Silent	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr19:36128163C>T	uc002oan.3	+	8	1315	c.1239C>T	c.(1237-1239)atC>atT	p.I413I	RBM42_uc002oap.3_Silent_p.I383I|RBM42_uc002oaq.3_Silent_p.I384I	NM_024321	NP_077297	Q9BTD8	RBM42_HUMAN	Homo sapiens RNA binding motif protein 42 (RBM42), mRNA.	413	Necessary for interaction with HNRNPK (By similarity).|RRM.					cytoplasm|nucleus	RNA binding|nucleotide binding			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCAAGGTGATCCGTGACAAGC	0.587000														57			6		0	0	8.12818e-05	0	0
ZFP106	64397	broad.mit.edu	37	15	42743614	42743614	+	Missense_Mutation	SNP	A	G	G	rs139622071		TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr15:42743614A>G	uc001zpw.3	-	1	1114	c.787T>C	c.(787-789)Tgg>Cgg	p.W263R	ZFP106_uc001zpu.3_5'Flank|ZFP106_uc001zpv.3_Intron|ZFP106_uc001zpx.3_Intron|ZFP106_uc010udh.1_Missense_Mutation_p.W46R|ZFP106_uc001zpy.1_Missense_Mutation_p.W286R	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	Homo sapiens zinc finger protein 106 homolog (mouse) (ZFP106), mRNA.	263						nucleolus	zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	61		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		TTCTTGTTCCATAGCATAGTC	0.378000														45			15		0	0	0.000308642	0	0
MC3R	4159	broad.mit.edu	37	20	54824661	54824661	+	Silent	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr20:54824661C>T	uc002xxb.2	+	0	874	c.762C>T	c.(760-762)tgC>tgT	p.C254C		NM_019888	NP_063941	P41968	MC3R_HUMAN	Homo sapiens melanocortin 3 receptor (MC3R), mRNA.	291					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			TCATCTTCTGCTGGGCCCCCT	0.597000														38			31		0	0	0.000227799	0	0
KDM5A	5927	broad.mit.edu	37	12	438098	438098	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr12:438098G>A	uc001qif.1	-	13	2234	c.1871C>T	c.(1870-1872)cCa>cTa	p.P624L	KDM5A_uc010sdn.1_Missense_Mutation_p.P583L|KDM5A_uc010sdo.1_Missense_Mutation_p.P243L	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA.	624					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TAAGCATTCTGGATCTGCTGC	0.463000			T	NUP98	AML									45			104		0	0	0.000781405	0	0
KRT16P3	644945	broad.mit.edu	37	17	20405530	20405530	+	RNA	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr17:20405530C>T	uc002gxb.3	-	4		c.1506G>A								Homo sapiens keratin 16 pseudogene 3 (KRT16P3), non-coding RNA.																		CAATCAGTCCCTGGATCTGGG	0.567000														22			13		0	0	0.000295444	0	0
DDX24	57062	broad.mit.edu	37	14	94545401	94545401	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr14:94545401T>C	uc001ycj.3	-	1	787	c.688A>G	c.(688-690)Aaa>Gaa	p.K230E	DDX24_uc010twq.2_Missense_Mutation_p.K187E|DDX24_uc010twr.2_Intron|IFI27L1_uc001ycl.3_5'Flank|IFI27L1_uc001yck.3_5'Flank	NM_020414	NP_065147	Q9GZR7	DDX24_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 24 (DDX24), mRNA.	230	Helicase ATP-binding.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		ATGTCCAGTTTGTCACGGATG	0.547000														59			27		0	0	0.000147802	0	0
PSKH2	85481	broad.mit.edu	37	8	87076413	87076413	+	Silent	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr8:87076413C>T	uc011lfy.2	-	1	633	c.633G>A	c.(631-633)ggG>ggA	p.G211G		NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	Homo sapiens protein serine kinase H2 (PSKH2), mRNA.	211	Protein kinase.		G -> R (in dbSNP:rs36074412).				ATP binding|protein serine/threonine kinase activity	p.G211W(1)		NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			CACTTTTTTTCCCGGAGTATG	0.418000														54			5		0	0	0.000602214	0	0
IL7R	3575	broad.mit.edu	37	5	35876102	35876102	+	Silent	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr5:35876102C>T	uc003jjs.3	+	7	983	c.894C>T	c.(892-894)ttC>ttT	p.F298F	IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	298					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			ATGTGAGTTTCAATCCTGAAA	0.418000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							20			21		0	0	0.000295444	0	0
SEMA5B	54437	broad.mit.edu	37	3	122634311	122634311	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr3:122634311G>A	uc003efz.1	-	13	2268	c.1964C>T	c.(1963-1965)gCc>gTc	p.A655V	SEMA5B_uc011bju.1_Missense_Mutation_p.A597V|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Missense_Mutation_p.A655V|SEMA5B_uc010hro.1_Missense_Mutation_p.A597V	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	655					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GATGTGGATGGCTGGCCCCAG	0.612000														28			14		0	0	0.000566183	0	0
KRT5	3852	broad.mit.edu	37	12	52913579	52913579	+	Missense_Mutation	SNP	C	T	T	rs58619430		TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr12:52913579C>T	uc001san.3	-	0	665	c.502G>A	c.(502-504)Gag>Aag	p.E168K	KRT5_uc009zmh.3_Missense_Mutation_p.E168K	NM_000424	NP_000415	P13647	K2C5_HUMAN	Homo sapiens keratin 5 (KRT5), mRNA.	168	Coil 1A.|Rod.		E -> K (in DM-EBS; dbSNP:rs58619430).		epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGCTCGCGCTCCTCGGTCCTC	0.507000														80			52		0	0	0.000781405	0	0
PKD2L2	27039	broad.mit.edu	37	5	137228269	137228269	+	Silent	SNP	T	C	C			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr5:137228269T>C	uc003lby.3	+	2	290	c.234T>C	c.(232-234)ttT>ttC	p.F78F	PKD2L2_uc010jep.1_Silent_p.F18F|PKD2L2_uc003lbw.1_Silent_p.F78F|PKD2L2_uc003lbx.3_Silent_p.F78F	NM_014386	NP_055201	Q9NZM6	PK2L2_HUMAN	Homo sapiens polycystic kidney disease 2-like 2 (PKD2L2), mRNA.	78						integral to membrane	calcium ion binding|ion channel activity	p.F78V(1)		breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GAACCAACTTTAAGTCCATTC	0.388000														56			33		0	0	0.000191422	0	0
MDH2	4191	broad.mit.edu	37	7	75686799	75686799	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr7:75686799C>T	uc003ueo.3	+	2	393	c.307C>T	c.(307-309)Ccc>Tcc	p.P103S	MDH2_uc011kgh.2_Missense_Mutation_p.P103S|MDH2_uc003uep.3_5'UTR	NM_005918	NP_005909	P40926	MDHM_HUMAN	Homo sapiens malate dehydrogenase 2, NAD (mitochondrial) (MDH2), nuclear gene encoding mitochondrial protein, mRNA.	103					gluconeogenesis|malate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus|plasma membrane	L-malate dehydrogenase activity|binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2)	14					NADH(DB00157)	GGCTGGAGTCCCCAGAAAGCC	0.468000														29			27		0	0	0.000339439	0	0
ASTN1	460	broad.mit.edu	37	1	176853551	176853551	+	Silent	SNP	G	A	A	rs150457018		TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr1:176853551G>A	uc001glc.3	-	18	3362	c.3150C>T	c.(3148-3150)atC>atT	p.I1050I	ASTN1_uc001glb.1_Silent_p.I1050I|ASTN1_uc001gld.1_Silent_p.I1050I	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	1058	Fibronectin type-III 1.				cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCTGCACCCCGATTGGTGGCT	0.547000														71			21		0	0	0.000175454	0	0
MTM1	4534	broad.mit.edu	37	X	149767074	149767074	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chrX:149767074T>C	uc004fef.4	+	3	231	c.155T>C	c.(154-156)aTa>aCa	p.I52T	MTM1_uc011mxx.2_Intron|MTM1_uc011mxy.2_Missense_Mutation_p.I52T|MTM1_uc011mxz.2_Intron|MTM1_uc010nte.3_5'UTR	NM_000252	NP_000243	Q13496	MTM1_HUMAN	Homo sapiens myotubularin 1 (MTM1), mRNA.	52	GRAM.				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					GTTATTTACATATGTCCTTTC	0.284000														18			31		0	0	0.000814825	0	0
DYSF	8291	broad.mit.edu	37	2	71816787	71816787	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr2:71816787A>G	uc010fen.3	+	30	3608	c.3467A>G	c.(3466-3468)aAc>aGc	p.N1156S	DYSF_uc010fei.3_Missense_Mutation_p.N1155S|DYSF_uc010feh.3_Missense_Mutation_p.N1124S|DYSF_uc002sig.4_Missense_Mutation_p.N1124S|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.N1169S|DYSF_uc010fee.3_Missense_Mutation_p.N1138S|DYSF_uc010fef.3_Missense_Mutation_p.N1155S|DYSF_uc002sie.3_Missense_Mutation_p.N1138S|DYSF_uc010feo.3_Missense_Mutation_p.N1170S|DYSF_uc010fej.3_Missense_Mutation_p.N1125S|DYSF_uc010fel.3_Missense_Mutation_p.N1125S|DYSF_uc010fem.3_Missense_Mutation_p.N1139S|DYSF_uc002sif.3_Missense_Mutation_p.N1139S|DYSF_uc010fek.3_Missense_Mutation_p.N1156S|DYSF_uc010yqy.2_Missense_Mutation_p.N19S	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1138	C2 4.					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						TTCGGTGTGAACAGACCCACG	0.517000														122			8		0	0	6.40141e-05	0	0
SSTR5	6755	broad.mit.edu	37	16	1128917	1128917	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr16:1128917C>T	uc021taf.1	+	1	120	c.49C>T	c.(49-51)Ccg>Tcg	p.P17S	LOC146336_uc002cko.3_5'Flank|LOC146336_uc002ckp.1_5'Flank|SSTR5_uc002ckq.3_Missense_Mutation_p.P17S	NM_001172560	NP_001166031	P35346	SSR5_HUMAN	Homo sapiens somatostatin receptor 5 (SSTR5), transcript variant 2, mRNA.	17					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	CGCCTCCTCCCCGGGGGCTGC	0.726000														4			4		0	0	0.000602214	0	0
OR7C1	26664	broad.mit.edu	37	19	14910268	14910268	+	Silent	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr19:14910268C>T	uc010xnz.2	-	0	681	c.681G>A	c.(679-681)agG>agA	p.R227R		NM_198944	NP_945182	O76099	OR7C1_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily C, member 1 (OR7C1), mRNA.	227					sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						CTGAGGAAATCCTCAGTATAG	0.438000														35			30		0	0	0.000184323	0	0
RPL23P8	222901	broad.mit.edu	37	7	20866954	20866954	+	RNA	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr7:20866954C>T	uc011jyj.1	+	0		c.38C>T								Homo sapiens ribosomal protein L23 pseudogene 8 (RPL23P8), non-coding RNA.																		GATGTGGAAGCGAGGACGTGG	0.423000														13			4		0	0	0.000602214	0	0
ZNF479	90827	broad.mit.edu	37	7	57200000	57200000	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr7:57200000C>T	uc010kzo.3	-	1	303	c.32G>A	c.(31-33)cGa>cAa	p.R11Q		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	Homo sapiens zinc finger protein 479 (ZNF479), mRNA.	11					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			CACCATTTCTCGGCTTCCAGG	0.552000														33			36		0	0	0.000228196	0	0
CFTR	1080	broad.mit.edu	37	7	117232675	117232675	+	Silent	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr7:117232675G>A	uc003vjd.3	+	13	2586	c.2454G>A	c.(2452-2454)ttG>ttA	p.L818L	CFTR_uc011knq.2_Silent_p.L224L	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	818					respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	AAACTGGCTTGGAAATAAGTG	0.403000									Cystic Fibrosis					33			34		0	0	0.000491102	0	0
ASH1L	55870	broad.mit.edu	37	1	155448249	155448249	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr1:155448249G>A	uc009wqq.3	-	2	4892	c.4412C>T	c.(4411-4413)cCt>cTt	p.P1471L	ASH1L_uc001fkt.3_Missense_Mutation_p.P1471L|ASH1L_uc009wqr.1_Missense_Mutation_p.P1471L	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	1471					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GGCCATCTCAGGAGGAACACT	0.483000														78			16		0	0	0.000958276	0	0
HSPB3	8988	broad.mit.edu	37	5	53751781	53751781	+	Silent	SNP	T	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr5:53751781T>A	uc003jph.2	+	0	351	c.162T>A	c.(160-162)ccT>ccA	p.P54P		NM_006308	NP_006299	Q12988	HSPB3_HUMAN	Homo sapiens heat shock 27kDa protein 3 (HSPB3), mRNA.	54					cell death|response to heat|response to unfolded protein	cytoplasm|nucleus				breast(1)|large_intestine(4)|prostate(3)	8		Lung NSC(810;0.00104)				CGCAGTCTCCTCCAGTGGACT	0.562000														25			75		0	0	0.000781405	0	0
DNER	92737	broad.mit.edu	37	2	230377642	230377642	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr2:230377642G>A	uc002vpv.3	-	5	1151	c.1004C>T	c.(1003-1005)tCc>tTc	p.S335F	DNER_uc010zly.1_Missense_Mutation_p.S63F	NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	335	EGF-like 3.				Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		ACAGGTACAGGAAAAAGTTGC	0.438000														28			13		0	0	0.000151284	0	0
ABLIM1	3983	broad.mit.edu	37	10	116361657	116361657	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr10:116361657C>T	uc021pyx.1	-	1	407	c.308G>A	c.(307-309)gGg>gAg	p.G103E	ABLIM1_uc021pyw.1_Missense_Mutation_p.G103E|ABLIM1_uc021pyy.1_Missense_Mutation_p.G43E|ABLIM1_uc021pyz.1_Missense_Mutation_p.G37E|ABLIM1_uc021pza.1_Missense_Mutation_p.G43E|ABLIM1_uc021pze.1_Missense_Mutation_p.G27E|ABLIM1_uc021pzf.1_Missense_Mutation_p.G37E|ABLIM1_uc001lbz.1_Missense_Mutation_p.G26E	NM_002313	NP_002304	O14639	ABLM1_HUMAN	Homo sapiens actin binding LIM protein 1 (ABLIM1), transcript variant 1, mRNA.	103	LIM zinc-binding 1.				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		GCAAGGCTCCCCACATTTATG	0.512000														44			8		0	0	0.000274275	0	0
TRIM10	10107	broad.mit.edu	37	6	30128351	30128351	+	Silent	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr6:30128351C>T	uc003npo.3	-	0	361	c.285G>A	c.(283-285)gaG>gaA	p.E95E	TRIM10_uc003npn.2_Silent_p.E95E|TRIM15_uc010jrx.3_5'Flank	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN	Homo sapiens tripartite motif containing 10 (TRIM10), transcript variant 1, mRNA.	95						cytoplasm	zinc ion binding			ovary(1)	1						AGACATCCTCCTCTCCCAAAC	0.587000														154			22		0	0	0.000295444	0	0
SLC6A20	54716	broad.mit.edu	37	3	45814059	45814059	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr3:45814059G>A	uc011bai.2	-	4	755	c.631C>T	c.(631-633)Ctc>Ttc	p.L211F	SLC6A20_uc003cow.3_5'Flank|SLC6A20_uc011baj.2_Intron	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.	211					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CCCCTGATGAGGTAGATGATG	0.622000														22			7		0	0	0.000442599	0	0
TRIM58	25893	broad.mit.edu	37	1	248039677	248039677	+	Silent	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr1:248039677C>T	uc001ido.3	+	5	1395	c.1347C>T	c.(1345-1347)ttC>ttT	p.F449F	OR2W3_uc001idp.1_Intron	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.	449	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTTACTTTTTCATCTGTGATG	0.423000														56			53		0	0	0.000781405	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12835087	12835087	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr1:12835087C>A	uc001aui.3	+	0	104	c.77C>A	c.(76-78)cCc>cAc	p.P26H		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	26										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTGGCCATCCCCACCCTGGAG	0.592000														26			37		6.53348e-20	8.53114e-19	0.000692331	1	0
PLCH1	23007	broad.mit.edu	37	3	155200266	155200266	+	Silent	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr3:155200266C>T	uc021xge.1	-	22	3850	c.3573G>A	c.(3571-3573)gaG>gaA	p.E1191E	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Silent_p.E1153E	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1191					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AACTGCCCGGCTCATTCTCAT	0.433000														37			17		0	0	0.000566183	0	0
SH3BP4	23677	broad.mit.edu	37	2	235943748	235943748	+	Silent	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr2:235943748C>T	uc002vvp.3	+	2	495	c.102C>T	c.(100-102)agC>agT	p.S34S	SH3BP4_uc010fym.3_Silent_p.S34S|SH3BP4_uc002vvq.3_Silent_p.S34S	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	Homo sapiens SH3-domain binding protein 4 (SH3BP4), mRNA.	34					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CAGAGACGAGCTTTAATGACA	0.527000														44			19		0	0	0.000375601	0	0
FAM5C	339479	broad.mit.edu	37	1	190195314	190195314	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr1:190195314G>A	uc001gse.1	-	5	1091	c.859C>T	c.(859-861)Cca>Tca	p.P287S	FAM5C_uc010pot.1_Missense_Mutation_p.P185S	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	287						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TTGCATTCTGGAAATTTGGGA	0.438000														35			34		0	0	0.000814825	0	0
LOXL2	4017	broad.mit.edu	37	8	23225594	23225594	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr8:23225594G>A	uc003xdh.1	-	1	610	c.271C>T	c.(271-273)Cac>Tac	p.H91Y		NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	Homo sapiens lysyl oxidase-like 2 (LOXL2), mRNA.	91	SRCR 1.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		TGGGCAGCGTGGATGGAGAAG	0.642000														49			16		0	0	0.000422831	0	0
SUPV3L1	6832	broad.mit.edu	37	10	70958868	70958868	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr10:70958868C>T	uc001jpe.1	+	9	1268	c.1213C>T	c.(1213-1215)Ctt>Ttt	p.L405F	SUPV3L1_uc010qjd.1_Missense_Mutation_p.L274F	NM_003171	NP_003162	Q8IYB8	SUV3_HUMAN	Homo sapiens suppressor of var1, 3-like 1 (S. cerevisiae) (SUPV3L1), mRNA.	405	Helicase C-terminal.				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGGGACCAAACTTGCTCAAGC	0.353000														31			15		0	0	0.000308642	0	0
FTSJD2	23070	broad.mit.edu	37	6	37411865	37411865	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr6:37411865C>T	uc003ons.3	+	2	477	c.224C>T	c.(223-225)tCt>tTt	p.S75F	FTSJD2_uc010jwu.2_Missense_Mutation_p.S75F	NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN	Homo sapiens FtsJ methyltransferase domain containing 2 (FTSJD2), mRNA.	75					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						AAAGCAGACTCTCTTGTGGAA	0.468000														80			353		0	0	0.000781405	0	0
OR5M9	390162	broad.mit.edu	37	11	56230195	56230195	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr11:56230195G>A	uc010rjj.2	-	0	683	c.683C>T	c.(682-684)tCt>tTt	p.S228F	OR8U8_uc001nit.2_Intron	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 9 (OR5M9), mRNA.	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					GCCATCGGCAGAGCGCATGCG	0.498000														17			7		0	0	8.12818e-05	0	0
TLR7	51284	broad.mit.edu	37	X	12905795	12905795	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chrX:12905795G>A	uc004cvc.3	+	2	2307	c.2168G>A	c.(2167-2169)aGa>aAa	p.R723K		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	Homo sapiens toll-like receptor 7 (TLR7), mRNA.	723					I-kappaB phosphorylation|cellular response to mechanical stimulus|defense response to virus|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|siRNA binding|single-stranded RNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	AACTGTTCCAGAAGCCTCAAG	0.428000														22			52		0	0	0.000781405	0	0
SPNS3	201305	broad.mit.edu	37	17	4356364	4356364	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr17:4356364G>A	uc002fxt.3	+	7	1021	c.977G>A	c.(976-978)gGg>gAg	p.G326E	SPNS3_uc002fxu.3_Missense_Mutation_p.G199E	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN	Homo sapiens spinster homolog 3 (Drosophila) (SPNS3), mRNA.	326					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						GTCATCTTGGGGGCAGAAGCT	0.592000														67			48		0	0	0.000781405	0	0
OR10J3	441911	broad.mit.edu	37	1	159283707	159283708	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr1:159283707_159283708AC>TT	uc010piu.2	-	0	742_743	c.742_743GT>AA	c.(742-744)gtg>AAg	p.V248K		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T247R(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GATGATGACCACTGTGAGGTGG	0.515000														62			17		0	0	6.4e-05	0	0
ZNF277	11179	broad.mit.edu	37	7	111846826	111846826	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr7:111846826G>A	uc003vge.2	+	0	184	c.55G>A	c.(55-57)Ggg>Agg	p.G19R	DOCK4_uc003vfx.3_5'Flank|DOCK4_uc003vfy.3_5'Flank|DOCK4_uc003vga.1_5'Flank|DOCK4_uc010ljt.1_5'Flank|ZNF277_uc003vgd.3_Missense_Mutation_p.G19R|ZNF277_uc003vgf.2_5'UTR|ZNF277_uc003vgc.3_Missense_Mutation_p.G19R	NM_021994	NP_068834	Q9NRM2	ZN277_HUMAN	Homo sapiens zinc finger protein 277 (ZNF277), mRNA.	19						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G19G(1)		breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						AGACCGTGATGGGAGCTGCAG	0.632000														45			11		0	0	0.000308642	0	0
MB	4151	broad.mit.edu	37	22	36003387	36003387	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr22:36003387T>G	uc003anz.3	-	2	502	c.422A>C	c.(421-423)aAg>aCg	p.K141T	MB_uc003aoa.3_Missense_Mutation_p.K141T|MB_uc003aob.3_Missense_Mutation_p.K141T	NM_005368	NP_976312	P02144	MYG_HUMAN	Homo sapiens myoglobin (MB), transcript variant 1, mRNA.	141							heme binding|oxygen transporter activity			lung(1)	1						GGCCATGTCCTTCCGGAACAG	0.632000														34			15		0	0	0.000422831	0	0
TCR-alpha	0	broad.mit.edu	37	14	22337313	22337313	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr14:22337313G>A	uc021rpg.1	+	1	167	c.104G>A	c.(103-105)gGa>gAa	p.G35E	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron					Homo sapiens mRNA for T cell receptor alpha variable 13, partial cds, clone: SEB 85.																		GTCCAGGAGGGAGACAGCGCT	0.438000														43			21		0	0	0.000132079	0	0
SBK2	646643	broad.mit.edu	37	19	56047472	56047472	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr19:56047472C>T	uc010ygc.2	-	1	205	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K		NM_001101401	NP_001094871	P0C263	SBK2_HUMAN	Homo sapiens SH3-binding domain kinase family, member 2 (SBK2), mRNA.	64	Protein kinase.						ATP binding|protein serine/threonine kinase activity			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						GGACGCACTTCCTCGTAGAGC	0.662000														14			14		0	0	0.000422831	0	0
GPC5	2262	broad.mit.edu	37	13	92345598	92345598	+	Missense_Mutation	SNP	A	T	T	rs144683011	byFrequency	TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr13:92345598A>T	uc010tif.2	+	2	849	c.483A>T	c.(481-483)gaA>gaT	p.E161D		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	161						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				ATCCTGAAGAATTTGTAAACA	0.453000														76			26		0	0	0.000184323	0	0
LILRA1	11024	broad.mit.edu	37	19	55086450	55086450	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr19:55086450C>T	uc010ern.3	+	4	1074	c.605C>T	c.(604-606)tCt>tTt	p.S202F	LILRA1_uc002qgg.4_Missense_Mutation_p.S202F|LILRA1_uc002qgf.3_Missense_Mutation_p.S202F|LILRA1_uc010yfe.1_Missense_Mutation_p.S202F|LILRA1_uc010yff.1_Missense_Mutation_p.S190F|LILRA1_uc010ero.3_Missense_Mutation_p.S190F|LILRA1_uc010yfg.1_Missense_Mutation_p.S202F			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	204	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GACTCGAACTCTCCCTATGTG	0.577000														115			20		0	0	0.000295444	0	0
UNC13D	201294	broad.mit.edu	37	17	73835948	73835948	+	Missense_Mutation	SNP	C	T	T	rs150442758		TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr17:73835948C>T	uc002jpp.3	-	11	1407	c.1027G>A	c.(1027-1029)Gac>Aac	p.D343N	UNC13D_uc010wsk.1_Missense_Mutation_p.D343N|UNC13D_uc002jpq.1_5'UTR|UNC13D_uc010dgq.1_Missense_Mutation_p.D140N	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	Homo sapiens unc-13 homolog D (C. elegans) (UNC13D), mRNA.	343	Interaction with RAB27A.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCGGATAGGTCCTTCTGTGTG	0.667000									Familial Hemophagocytic Lymphohistiocytosis					75			12		0	0	0.00010058	0	0
NT5E	4907	broad.mit.edu	37	6	86180955	86180955	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr6:86180955G>A	uc003pko.4	+	3	1119	c.563_splice	c.e3-1	p.G188_splice	NT5E_uc003pkn.3_Splice_Site_p.G188_splice|NT5E_uc010kbr.3_Splice_Site_p.G188_splice	NM_002526	NP_002517	P21589	5NTD_HUMAN	Homo sapiens 5'-nucleotidase, ecto (CD73) (NT5E), transcript variant 1, mRNA.	188					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	tGTTCCTTAGGGACAAATTTA	0.254000														10			4		0	0	0.00024832	0	0
NHSL2	340527	broad.mit.edu	37	X	71359490	71359490	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chrX:71359490G>A	uc011mqa.2	+	5	2092	c.2092G>A	c.(2092-2094)Gag>Aag	p.E698K	NHSL2_uc004eak.1_Missense_Mutation_p.E332K|NHSL2_uc010nli.2_Missense_Mutation_p.E467K	NM_001013627	NP_001013649	F5H593	F5H593_HUMAN	Homo sapiens NHS-like 2 (NHSL2), mRNA.	698										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					GGAGGCCAGGGAGATATCATC	0.577000														7			15		0	0	0.000566183	0	0
NKX2-2	4821	broad.mit.edu	37	20	21493043	21493043	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr20:21493043T>C	uc002wsi.3	-	1	697	c.340A>G	c.(340-342)Aat>Gat	p.N114D		NM_002509	NP_002500	O95096	NKX22_HUMAN	Homo sapiens NK2 homeobox 2 (NKX2-2), mRNA.	114					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TCCTTGTCATTGTCCGGTGAC	0.697000														19			13		0	0	0.000151284	0	0
CEP70	80321	broad.mit.edu	37	3	138227295	138227295	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr3:138227295G>T	uc003esl.3	-	11	1234	c.1036C>A	c.(1036-1038)Cag>Aag	p.Q346K	CEP70_uc011bmk.2_Missense_Mutation_p.Q326K|CEP70_uc011bml.2_Missense_Mutation_p.Q328K|CEP70_uc011bmm.2_Missense_Mutation_p.Q194K|CEP70_uc003esm.3_Missense_Mutation_p.Q346K	NM_024491	NP_077817	Q8NHQ1	CEP70_HUMAN	Homo sapiens centrosomal protein 70kDa (CEP70), mRNA.	346					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						AAGTATCTCTGGTCAATTAGG	0.363000														453			13		0.000422831	0.00523558	0.000422831	1	0
CUX2	23316	broad.mit.edu	37	12	111652026	111652026	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr12:111652026C>T	uc001tsa.2	+	1	240	c.86C>T	c.(85-87)tCt>tTt	p.S29F	CUX2_uc001tsb.2_Missense_Mutation_p.S84F	NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	29						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TCCGTCGCTTCTGAGCTGTCT	0.353000														69			6		0	0	3.59834e-05	0	0
FILIP1	27145	broad.mit.edu	37	6	76023417	76023417	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr6:76023417G>A	uc010kbe.3	-	5	2670	c.2140C>T	c.(2140-2142)Cgg>Tgg	p.R714W	FILIP1_uc003phy.1_Missense_Mutation_p.R711W|FILIP1_uc003phz.3_Missense_Mutation_p.R612W|FILIP1_uc003pia.3_Missense_Mutation_p.R711W|FILIP1_uc003pib.1_Missense_Mutation_p.R463W	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	711								p.R711W(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TCTTCCAACCGAAATCTGTGT	0.413000														143			55		0	0	0.000781405	0	0
PSMF1	9491	broad.mit.edu	37	20	1115875	1115875	+	Silent	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr20:1115875C>T	uc002wel.4	+	4	645	c.477C>T	c.(475-477)ccC>ccT	p.P159P	PSMF1_uc010zpo.2_Silent_p.P71P|PSMF1_uc010zpp.2_Intron|PSMF1_uc002wen.4_Silent_p.P159P|PSMF1_uc002wep.4_Silent_p.P110P	NM_178578	NP_848693	Q92530	PSMF1_HUMAN	Homo sapiens proteasome (prosome, macropain) inhibitor subunit 1 (PI31) (PSMF1), transcript variant 2, mRNA.	159	Pro-rich.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	proteasome core complex	endopeptidase inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						GGGAGTTCCCCCCTGCTACCG	0.582000														17			18		0	0	0.000958276	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37419276	37419276	+	Silent	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr10:37419276C>T	uc021ppc.1	+	2	411	c.312C>T	c.(310-312)tcC>tcT	p.S104S	ANKRD30A_uc001iza.1_Silent_p.S104S	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	160						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			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						AACTGCTGTCCCATGGTGCAG	0.378000														21			6		0	0	0.000157383	0	0
PTCD2	79810	broad.mit.edu	37	5	71622533	71622533	+	Silent	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr5:71622533G>A	uc003kcb.3	+	2	325	c.315G>A	c.(313-315)cgG>cgA	p.R105R	PTCD2_uc011csf.1_5'UTR|PTCD2_uc003kcc.3_5'UTR|PTCD2_uc011csg.2_5'UTR|PTCD2_uc011csh.2_Intron|PTCD2_uc003kcd.3_Non-coding_Transcript	NM_024754	NP_079030	Q8WV60	PTCD2_HUMAN	Homo sapiens pentatricopeptide repeat domain 2 (PTCD2), mRNA.	105								p.R105Q(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		GTGAGTCTCGGGACCATGTGG	0.413000														54			44		0	0	0.000781405	0	0
CSMD3	114788	broad.mit.edu	37	8	113504731	113504731	+	Silent	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr8:113504731C>T	uc003ynu.3	-	30	5424	c.5265G>A	c.(5263-5265)ttG>ttA	p.L1755L	CSMD3_uc003yns.3_Silent_p.L1027L|CSMD3_uc003ynt.3_Silent_p.L1715L|CSMD3_uc011lhx.2_Silent_p.L1651L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1755	Sushi 9.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GACAACTTGGCAAGGCTCTAT	0.358000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				79			16		0	0	0.000566183	0	0
ACO1	48	broad.mit.edu	37	9	32407274	32407274	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr9:32407274C>T	uc003zqw.4	+	2	268	c.113C>T	c.(112-114)tCg>tTg	p.S38L	ACO1_uc010mjh.1_5'UTR|ACO1_uc003zqx.4_Missense_Mutation_p.S38L|ACO1_uc003zqy.4_Non-coding_Transcript	NM_002197	NP_002188	P21399	ACOC_HUMAN	Homo sapiens aconitase 1, soluble (ACO1), mRNA.	38					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	Golgi apparatus|cytosol|endoplasmic reticulum	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TTACCATTTTCGATCAGAGTT	0.383000														59			13		0	0	0.000308642	0	0
SERPINB7	8710	broad.mit.edu	37	18	61460426	61460426	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr18:61460426T>G	uc002ljl.3	+	3	347	c.251T>G	c.(250-252)tTt>tGt	p.F84C	SERPINB7_uc002ljm.3_Missense_Mutation_p.F84C|SERPINB7_uc010xet.2_Missense_Mutation_p.F67C|SERPINB7_uc010dqg.3_Missense_Mutation_p.F84C	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	84					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				AAAAGAGTTTTTTCTGATATA	0.343000														49			17		0	0	0.000566183	0	0
BLZF1	8548	broad.mit.edu	37	1	169347625	169347625	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr1:169347625C>T	uc001gfx.2	+	3	963	c.526C>T	c.(526-528)Cac>Tac	p.H176Y	BLZF1_uc001gfy.3_Missense_Mutation_p.H176Y|BLZF1_uc009wvp.1_Missense_Mutation_p.H153Y	NM_003666	NP_003657	Q9H2G9	GO45_HUMAN	Homo sapiens basic leucine zipper nuclear factor 1 (BLZF1), mRNA.	176					Golgi organization|Golgi to plasma membrane protein transport|cell proliferation|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					TCTTCAGTATCACTTTGAACG	0.388000														60			49		0	0	0.000781405	0	0
MICALL1	85377	broad.mit.edu	37	22	38323801	38323801	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr22:38323801C>T	uc003aui.3	+	8	2124	c.1849C>T	c.(1849-1851)Cct>Tct	p.P617S		NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN	Homo sapiens MICAL-like 1 (MICALL1), mRNA.	617	Pro-rich.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					GGTGCCTTCCCCTGGAAGCTC	0.632000														37			31		0	0	0.00058488	0	0
HADHB	3032	broad.mit.edu	37	2	26501519	26501519	+	Silent	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr2:26501519C>T	uc002rgz.3	+	7	731	c.480C>T	c.(478-480)atC>atT	p.I160I	HADHB_uc010ykv.2_Silent_p.I138I|HADHB_uc010ykw.2_Silent_p.I145I|HADHB_uc010ykx.2_Silent_p.I86I	NM_000183	NP_000174	P55084	ECHB_HUMAN	Homo sapiens hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit (HADHB), nuclear gene encoding mitochondrial protein, mRNA.	160					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGATGTGATCGTGGCAGGTG	0.423000														102			34		0	0	0.000437636	0	0
NRG3	10718	broad.mit.edu	37	10	84118519	84118519	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr10:84118519G>A	uc021pvc.1	+	1	875	c.848G>A	c.(847-849)cGa>cAa	p.R283Q	NRG3_uc010qlz.1_Missense_Mutation_p.R283Q|NRG3_uc021pvb.1_Non-coding_Transcript|NRG3_uc001kco.2_Missense_Mutation_p.R283Q|NRG3_uc001kcp.2_Missense_Mutation_p.R62Q|NRG3_uc001kcq.2_5'UTR|NRG3_uc021pvd.1_Missense_Mutation_p.R62Q|NRG3_uc021pve.1_Missense_Mutation_p.R87Q|NRG3_uc021pvf.1_5'UTR|NRG3_uc021pvg.1_Missense_Mutation_p.R87Q|NRG3_uc021pvh.1_5'UTR|NRG3_uc021pvi.1_Missense_Mutation_p.R113Q|NRG3_uc021pvk.1_5'UTR	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA.	283	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		TCCACAGAGCGATCCGAGCAC	0.517000														34			18		0	0	0.000958276	0	0
TARBP1	6894	broad.mit.edu	37	1	234565942	234565942	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr1:234565942G>A	uc001hwd.3	-	14	2500	c.2500C>T	c.(2500-2502)Cat>Tat	p.H834Y		NM_005646	NP_005637	Q13395	TARB1_HUMAN	Homo sapiens TAR (HIV-1) RNA binding protein 1 (TARBP1), mRNA.	834					RNA processing|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GGCCCAGCATGGAGAGAGTCC	0.557000														64			40		0	0	0.000191422	0	0
PI4KB	5298	broad.mit.edu	37	1	151278757	151278757	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr1:151278757C>T	uc001exr.3	-	5	1940	c.1301G>A	c.(1300-1302)cGa>cAa	p.R434Q	PI4KB_uc001exs.3_Missense_Mutation_p.R407Q|PI4KB_uc001exu.3_Missense_Mutation_p.R407Q|PI4KB_uc010pcw.2_Missense_Mutation_p.R90Q|PI4KB_uc001ext.3_Missense_Mutation_p.R422Q	NM_002651	NP_001185704	Q9UBF8	PI4KB_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, beta (PI4KB), transcript variant 1, mRNA.	422					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	Golgi apparatus|endosome|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACTCCGAATTCGGTTCTCGGG	0.527000														35			21		0	0	0.000586117	0	0
SMCHD1	23347	broad.mit.edu	37	18	2688411	2688411	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr18:2688411C>T	uc002klm.4	+	5	847	c.658C>T	c.(658-660)Cgt>Tgt	p.R220C		NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.	220					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AGGATATGTTCGTCCAGTACC	0.373000														74			21		0	0	0.000375601	0	0
TCF3	6929	broad.mit.edu	37	19	1622363	1622363	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr19:1622363G>A	uc002ltr.3	-	8	670	c.601C>T	c.(601-603)Ccg>Tcg	p.P201S	TCF3_uc002lto.3_5'Flank|TCF3_uc002ltt.4_Missense_Mutation_p.P201S|TCF3_uc002ltq.3_Missense_Mutation_p.P150S|TCF3_uc002lts.1_Missense_Mutation_p.P117S|TCF3_uc010dso.1_5'Flank	NM_003200	NP_003191	P15923	TFE2_HUMAN	Homo sapiens transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47) (TCF3), transcript variant 1, mRNA.	201					B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	DNA binding|E-box binding|bHLH transcription factor binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGGCGGACGGGTAGGCGGTG	0.716000			T	"""PBX1, HLF, TFPT"""	pre B-ALL									8			6		0	0	0.000442599	0	0
RNF38	152006	broad.mit.edu	37	9	36357773	36357773	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr9:36357773G>A	uc003zzh.3	-	5	929	c.738_splice	c.e5+1	p.P246_splice	RNF38_uc003zzi.3_Splice_Site_p.P196_splice|RNF38_uc003zzj.3_Splice_Site_p.P163_splice|RNF38_uc003zzk.3_Splice_Site_p.P163_splice|RNF38_uc003zzl.3_Splice_Site_p.P170_splice|RNF38_uc003zzm.3_Splice_Site_p.P163_splice	NM_022781	NP_919313	Q9H0F5	RNF38_HUMAN	Homo sapiens ring finger protein 38 (RNF38), transcript variant 1, mRNA.	246	Pro-rich.						zinc ion binding			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			GAGACTTACTGGAGGAGGCAC	0.483000														21			6		0	0	8.12818e-05	0	0
ASB10	136371	broad.mit.edu	37	7	150873287	150873287	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr7:150873287C>T	uc003wjm.1	-	4	1577	c.1316G>A	c.(1315-1317)gGc>gAc	p.G439D	ASB10_uc003wjl.1_Missense_Mutation_p.G401D|ASB10_uc003wjn.1_Missense_Mutation_p.G424D	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 10 (ASB10), transcript variant 1, mRNA.	439	SOCS box.				intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGCAGGCTGCCCTCCAGGTG	0.667000														18			28		0	0	0.000279167	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	39913	39913	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chrGL000218.1:39913C>T	uc011mfn.2	-	3	493	c.404G>A	c.(403-405)cGg>cAg	p.R135Q	LOC100233156_uc003jah.2_Missense_Mutation_p.R135Q					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		CATGTTGGGCCGGTGTGAGAG	0.622000														19			6		0	0	8.12818e-05	0	0
TACC2	10579	broad.mit.edu	37	10	123843922	123843922	+	Missense_Mutation	SNP	C	T	T	rs113893072		TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr10:123843922C>T	uc001lfv.3	+	3	2267	c.1907C>T	c.(1906-1908)cCc>cTc	p.P636L	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.P636L|TACC2_uc010qtv.2_Missense_Mutation_p.P636L	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	636						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GCACAGCCACCCAGAAAGGGG	0.592000														23			8		0	0	0.000157383	0	0
POMGNT1	55624	broad.mit.edu	37	1	46657986	46657986	+	Silent	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr1:46657986C>T	uc001cpg.3	-	15	2058	c.1407G>A	c.(1405-1407)ccG>ccA	p.P469P	POMGNT1_uc010olx.2_Silent_p.P447P|POMGNT1_uc010oly.2_Non-coding_Transcript|POMGNT1_uc010olz.2_Silent_p.P326P|POMGNT1_uc001cpe.3_Silent_p.P469P|POMGNT1_uc001cpf.3_Silent_p.P136P|POMGNT1_uc001cph.1_Silent_p.P47P|POMGNT1_uc001cpi.1_Silent_p.P136P	NM_001243766	NP_001230695	Q8WZA1	PMGT1_HUMAN	Homo sapiens protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase (POMGNT1), transcript variant 2, mRNA.	469					protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					TTACCTTTTCCGGTGTAGGCC	0.572000														42			23		0	0	0.00047179	0	0
KRT9	3857	broad.mit.edu	37	17	39723595	39723595	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr17:39723595C>T	uc002hxe.4	-	6	1868	c.1802G>A	c.(1801-1803)gGa>gAa	p.G601E	JUP_uc010wfs.2_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	Homo sapiens keratin 9 (KRT9), mRNA.	601	Tail.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				ttcaccgcctccgtagctgcc	0.562000														29			5		0	0	0.000602214	0	0
GFRAL	389400	broad.mit.edu	37	6	55223697	55223697	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr6:55223697G>T	uc003pcm.1	+	5	799	c.713G>T	c.(712-714)aGa>aTa	p.R238I		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	238						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AGGCACTATAGAACATTTCAG	0.388000														78			9		1.76689e-08	2.2795e-07	0.000442599	1	0
FMNL1	752	broad.mit.edu	37	17	43309832	43309832	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr17:43309832G>A	uc002iin.3	+	2	512	c.312G>A	c.(310-312)tgG>tgA	p.W104*	FMNL1_uc002iio.3_Intron|FMNL1_uc002iip.1_5'Flank	NM_005892	NP_005883	O95466	FMNL_HUMAN	Homo sapiens formin-like 1 (FMNL1), mRNA.	104	GBD/FH3.				actin cytoskeleton organization		Rho GTPase binding|actin binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						CAGCTGATTGGATGTCCAACC	0.527000														23			9		0	0	0.000673444	0	0
SNX33	257364	broad.mit.edu	37	15	75941869	75941869	+	Silent	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr15:75941869C>T	uc002bau.3	+	0	522	c.426C>T	c.(424-426)ccC>ccT	p.P142P	IMP3_uc002bat.2_5'Flank|SNX33_uc002bav.3_5'Flank	NM_153271	NP_695003	Q8WV41	SNX33_HUMAN	Homo sapiens sorting nexin 33 (SNX33), mRNA.	142					cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						GGCACCCTCCCCTCAACCTCT	0.647000														19			11		0	0	6.40141e-05	0	0
RP1	6101	broad.mit.edu	37	8	55533756	55533756	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr8:55533756C>T	uc003xsd.1	+	1	378	c.230C>T	c.(229-231)cCt>cTt	p.P77L	RP1_uc011ldy.1_Missense_Mutation_p.P77L	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	77	Doublecortin 1.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.L76L(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GTGCCCCTCCCTTTTGGAGTG	0.612000														66			29		0	0	0.000814825	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2408579	2408579	+	Silent	SNP	C	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr19:2408579C>A	uc010xgx.2	+	6	966	c.966C>A	c.(964-966)ccC>ccA	p.P322P	TMPRSS9_uc002lvv.1_Silent_p.P356P	NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	Homo sapiens transmembrane protease, serine 9 (TMPRSS9), mRNA.	322	Peptidase S1 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	p.P322T(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTTCCCACCCAGCAAGAAGT	0.627000														68			6		0.000157383	0.00196569	0.000157383	1	0
ALPK1	80216	broad.mit.edu	37	4	113356441	113356441	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr4:113356441G>A	uc003ian.4	+	11	3399	c.3172G>A	c.(3172-3174)Gaa>Aaa	p.E1058K	ALPK1_uc003iap.4_Missense_Mutation_p.E1058K|ALPK1_uc011cfx.2_Missense_Mutation_p.E980K|ALPK1_uc003iao.4_Non-coding_Transcript|ALPK1_uc010imo.3_Missense_Mutation_p.E886K	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.	1058	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TCTTCATCAAGAAGAAATTCT	0.378000														148			79		0	0	0.000781405	0	0
N4BP2	55728	broad.mit.edu	37	4	40123006	40123006	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr4:40123006T>C	uc003guy.4	+	8	3613	c.3275T>C	c.(3274-3276)cTt>cCt	p.L1092P	N4BP2_uc010ifq.3_Missense_Mutation_p.L1012P|N4BP2_uc010ifr.3_Missense_Mutation_p.L1012P	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA.	1092						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	p.N1091D(2)		breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TCTGAAAATCTTAACATTCTT	0.348000														42			71		0	0	0.000781405	0	0
SHCBP1L	81626	broad.mit.edu	37	1	182898843	182898843	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr1:182898843C>T	uc001gpu.3	-	5	1406	c.1121G>A	c.(1120-1122)gGa>gAa	p.G374E	SHCBP1L_uc001gpv.3_Missense_Mutation_p.G255E|SHCBP1L_uc010pnz.2_Missense_Mutation_p.G232E|SHCBP1L_uc001gpw.3_Missense_Mutation_p.G94E	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN	Homo sapiens SHC SH2-domain binding protein 1-like (SHCBP1L), mRNA.	446										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						TTCTCTTTTTCCTTTCCTACG	0.274000														60			41		0	0	0.000781405	0	0
SPZ1	84654	broad.mit.edu	37	5	79616163	79616163	+	RNA	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr5:79616163C>T	uc011ctk.1	-	1		c.1352G>A			SPZ1_uc003kgn.3_Silent_p.S43S			Q9BXG8	SPZ1_HUMAN	Homo sapiens cDNA FLJ25709 fis, clone TST04944.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		GATCACATTCCCCTTCCTCCT	0.428000														124			20		0	0	0.000175454	0	0
KIAA1033	23325	broad.mit.edu	37	12	105550525	105550525	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr12:105550525G>A	uc010swr.2	+	26	2870	c.2783G>A	c.(2782-2784)cGa>cAa	p.R928Q	KIAA1033_uc001tld.3_Missense_Mutation_p.R927Q|KIAA1033_uc010sws.2_Missense_Mutation_p.R739Q	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN	Homo sapiens KIAA1033 (KIAA1033), mRNA.	927					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						GGCTATGTACGAATGATAAGA	0.313000														91			15		0	0	0.000132079	0	0
EDF1	8721	broad.mit.edu	37	9	139757824	139757824	+	Silent	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr9:139757824G>A	uc004cjt.1	-	2	235	c.207C>T	c.(205-207)caC>caT	p.H69H	EDF1_uc022bpv.1_Silent_p.H69H|EDF1_uc004cju.1_Silent_p.H69H	NM_003792	NP_003783	O60869	EDF1_HUMAN	Homo sapiens endothelial differentiation-related factor 1 (EDF1), transcript variant alpha, mRNA.	69	Interaction with NR5A2, PPARG and NR1H3.|Interaction with TBP and NR5A1.				endothelial cell differentiation|multicellular organismal development|positive regulation of DNA binding|positive regulation of transcription, DNA-dependent|regulation of lipid metabolic process|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	calmodulin binding|protein binding|sequence-specific DNA binding|transcription coactivator activity			lung(1)	1	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CCCTGTCATGGTGCAGCTCCT	0.612000														23			5		0	0	3.59834e-05	0	0
ZNF142	7701	broad.mit.edu	37	2	219507131	219507131	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr2:219507131C>T	uc002vin.3	-	7	4544	c.4108G>A	c.(4108-4110)Gat>Aat	p.D1370N	ZNF142_uc002vil.3_Missense_Mutation_p.D1331N|ZNF142_uc010fvt.3_Missense_Mutation_p.D1207N|ZNF142_uc002vim.3_Missense_Mutation_p.D1207N	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	1370					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CGGTGCTCATCCAGAGCCAGT	0.637000														37			21		0	0	0.000295444	0	0
GPC2	221914	broad.mit.edu	37	7	99769797	99769798	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr7:99769797_99769798GG>AA	uc003utv.3	-	5	1103_1104	c.935_936CC>TT	c.(934-936)tcc>tTT	p.S312F	GPC2_uc010lgr.3_Non-coding_Transcript	NM_152742	NP_689955	Q8N158	GPC2_HUMAN	Homo sapiens glypican 2 (GPC2), mRNA.	312						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCAGCTCAAAGGAAAAGGGGCC	0.540000														52			8		0	0	6.4e-05	0	0
RNF40	9810	broad.mit.edu	37	16	30783228	30783229	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr16:30783228_30783229CC>TT	uc002dzq.3	+	17	3481_3482	c.2661_2662CC>TT	c.(2659-2664)atccag>atTTag	p.Q888*	RNF40_uc010caa.3_Nonsense_Mutation_p.Q888*|RNF40_uc010cab.3_Nonsense_Mutation_p.Q788*|RNF40_uc010vfa.2_Nonsense_Mutation_p.Q220*|RNF40_uc010vfb.2_Nonsense_Mutation_p.Q580*|RNF40_uc002dzr.3_Nonsense_Mutation_p.Q888*|RNF40_uc010vfc.1_Nonsense_Mutation_p.Q220*	NM_014771	NP_055586	O75150	BRE1B_HUMAN	Homo sapiens ring finger protein 40 (RNF40), transcript variant 1, mRNA.	888					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			TGCGGGAGATCCAGCCCTGCCT	0.649000														28			16		0	0	6.4e-05	0	0
DKFZp686O16217	0	broad.mit.edu	37	14	106054658	106054658	+	Silent	SNP	T	G	G	rs114771275	by1000genomes	TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr14:106054658T>G	uc001yrt.3	-	1	124	c.93A>C	c.(91-93)gcA>gcC	p.A31A	abParts_uc021ser.1_Non-coding_Transcript|DKFZp686O16217_uc001yrs.3_Non-coding_Transcript					SubName: Full=Putative uncharacterized protein DKFZp686O16217; Flags: Fragment;																		GGACCAGGCATGCGACGACCA	0.622000														42			4		0	0	0.00024832	0	0
SH3BGR	6450	broad.mit.edu	37	21	40834351	40834351	+	Silent	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr21:40834351C>T	uc002yya.3	+	1	339	c.285C>T	c.(283-285)atC>atT	p.I95I	SH3BGR_uc002yxz.3_5'UTR	NM_007341	NP_001001713	P55822	SH3BG_HUMAN	Homo sapiens SH3 domain binding glutamic acid-rich protein (SH3BGR), transcript variant 1, mRNA.	95					protein complex assembly	cytosol	SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		CGAATAAAATCGACTTTAAGG	0.368000														63			16		0	0	0.000132079	0	0
HECW1	23072	broad.mit.edu	37	7	43477638	43477638	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr7:43477638G>A	uc003tid.1	+	8	1443	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	HECW1_uc011kbi.1_Missense_Mutation_p.E280K|HECW1_uc003tie.1_Missense_Mutation_p.E312K	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	280	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TGACGTGCTGGAAATTGAGGT	0.498000														80			72		0	0	0.000781405	0	0
HIC2	23119	broad.mit.edu	37	22	21800594	21800594	+	Silent	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr22:21800594C>T	uc002zur.4	+	2	1640	c.1410C>T	c.(1408-1410)ttC>ttT	p.F470F	HIC2_uc002zus.4_Silent_p.F470F	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	Homo sapiens hypermethylated in cancer 2 (HIC2), mRNA.	470					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				AAGAGCTGTTCATCAAGGAAG	0.637000														37			12		0	0	0.000219431	0	0
EIF4A3	9775	broad.mit.edu	37	17	78113496	78113496	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr17:78113496C>T	uc010wuc.2	-	6	632	c.559G>A	c.(559-561)Gat>Aat	p.D187N	EIF4A3_uc002jxs.3_Missense_Mutation_p.D187N	NM_014740	NP_055555	P38919	IF4A3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4A3 (EIF4A3), mRNA.	187	Helicase ATP-binding.				mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			TCAGCTTCATCCAAAACCAAC	0.323000														59			30		0	0	0.000279167	0	0
LCLAT1	253558	broad.mit.edu	37	2	30682518	30682519	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr2:30682518_30682519CC>AA	uc002rnj.3	+	1	249_250	c.40_41CC>AA	c.(40-42)cca>AAa	p.P14K	LCLAT1_uc010ymp.2_Intron|LCLAT1_uc002rnk.1_Missense_Mutation_p.P14K|LCLAT1_uc002rnl.3_Intron|LCLAT1_uc010ymq.2_5'UTR	NM_182551	NP_001002257	Q6UWP7	LCLT1_HUMAN	Homo sapiens lysocardiolipin acyltransferase 1 (LCLAT1), transcript variant 1, mRNA.	14					multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	p.P14Q(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						GCTTCTGAACCCATGGTCAATT	0.431000														352			10		0	0	6.4e-05	0	0
IL1R1	3554	broad.mit.edu	37	2	102781300	102781300	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr2:102781300C>T	uc002tbq.3	+	3	446	c.128C>T	c.(127-129)cCc>cTc	p.P43L	IL1R1_uc010fix.3_Missense_Mutation_p.P43L|IL1R1_uc002tbr.3_Missense_Mutation_p.P43L	NM_000877	NP_000868	P14778	IL1R1_HUMAN	Homo sapiens interleukin 1 receptor, type I (IL1R1), mRNA.	43	Ig-like C2-type 1.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	GATGTTCGTCCCTGTCCTCTT	0.368000														57			22		0	0	0.000878237	0	0
ASXL1	171023	broad.mit.edu	37	20	31024546	31024546	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr20:31024546C>T	uc021wbw.1	+	12	4463	c.4031C>T	c.(4030-4032)tCc>tTc	p.S1344F	ASXL1_uc002wxs.3_Missense_Mutation_p.S1343F|ASXL1_uc010geb.3_Missense_Mutation_p.S1235F	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	Homo sapiens additional sex combs like 1 (Drosophila) (ASXL1), transcript variant 1, mRNA.	1344					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.(574_1542)fs*?(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						AGCACAAACTCCATGTCTGGT	0.572000			"""F, N, Mis"""		"""MDS, CMML"""									68			12		0	0	0.000151284	0	0
ABCB5	340273	broad.mit.edu	37	7	20725337	20725337	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr7:20725337G>A	uc010kuh.3	+	15	2125	c.1888G>A	c.(1888-1890)Gaa>Aaa	p.E630K	ABCB5_uc003suw.4_Missense_Mutation_p.E185K	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	185	ABC transporter 2.				regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AAAAGCTGATGAACAGATGGA	0.348000														32			23		0	0	0.00047179	0	0
AHDC1	27245	broad.mit.edu	37	1	27874537	27874537	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr1:27874537G>C	uc021ojw.1	-	0	4090	c.4090C>G	c.(4090-4092)Cac>Gac	p.H1364D	AHDC1_uc009vsy.3_Missense_Mutation_p.H1364D|AHDC1_uc009vsz.1_Missense_Mutation_p.H1364D	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	Homo sapiens AT hook, DNA binding motif, containing 1 (AHDC1), mRNA.	1364							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GAGTCGCAGTGGAAGCCTTGG	0.647000														36			21		0	0	0.000132079	0	0
IL15RA	3601	broad.mit.edu	37	10	6002363	6002363	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr10:6002363C>T	uc021pmo.1	-	4	822	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K	IL15RA_uc010qau.2_Missense_Mutation_p.E151K|IL15RA_uc021pmp.1_Missense_Mutation_p.E121K|IL15RA_uc001iiv.3_Missense_Mutation_p.E184K|IL15RA_uc001iiw.3_Missense_Mutation_p.E148K|IL15RA_uc001iiy.3_Missense_Mutation_p.E32K	NM_001243539	NP_001230468	Q13261	I15RA_HUMAN	Homo sapiens interleukin 15 receptor, alpha (IL15RA), transcript variant 3, mRNA.	184					cell proliferation	Golgi membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane|nuclear membrane	cytokine receptor activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						GCTGTGAGTTCCCAGTTCTTG	0.572000														58			21		0	0	0.00047179	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724651	38724651	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr14:38724651G>A	uc001wum.1	-	0	924	c.577C>T	c.(577-579)Cgc>Tgc	p.R193C		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	193						integral to membrane	sugar binding	p.R193C(2)|p.R193R(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		AAGGGCGCGCGATAGCTCAAG	0.647000														26			20		0	0	0.000958276	0	0
CHD9	80205	broad.mit.edu	37	16	53190375	53190376	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr16:53190375_53190376GG>TT	uc002ehb.3	+	0	538_539	c.374_375GG>TT	c.(373-375)tgg>tTT	p.W125F	CHD9_uc002egy.3_Missense_Mutation_p.W125F|CHD9_uc002egz.1_Missense_Mutation_p.W125F|CHD9_uc002ehc.3_Missense_Mutation_p.W125F	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	125					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AGTCCAATGTGGGGCCATCAGA	0.416000														175			10		0	0	6.4e-05	0	0
DNAH11	8701	broad.mit.edu	37	7	21781669	21781669	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr7:21781669C>T	uc003svc.3	+	49	8091	c.8060C>T	c.(8059-8061)cCc>cTc	p.P2687L		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	2687	AAA 3 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGGAGTGGCCCCACTTTGATC	0.393000									Kartagener syndrome					201			22		0	0	0.000295444	0	0
SNX12	29934	broad.mit.edu	37	X	70281772	70281772	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chrX:70281772G>A	uc004dyr.1	-	2	382	c.307C>T	c.(307-309)Cct>Tct	p.P103S	SNX12_uc004dyp.1_Non-coding_Transcript|BC080535_uc004dyq.3_5'Flank	NM_013346	NP_037478	Q9UMY4	SNX12_HUMAN	Homo sapiens sorting nexin 12 (SNX12), transcript variant 2, mRNA.	103	PX.				cell communication|protein transport	membrane	phosphatidylinositol binding|protein binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	Renal(35;0.156)					CCTCGGAAAGGGAGCTGCCGC	0.522000														12			22		0	0	0.00047179	0	0
ANKRD12	23253	broad.mit.edu	37	18	9255436	9255436	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr18:9255436C>T	uc002knv.3	+	8	2435	c.2171C>T	c.(2170-2172)tCa>tTa	p.S724L	ANKRD12_uc002knw.3_Missense_Mutation_p.S701L|ANKRD12_uc002knx.3_Missense_Mutation_p.S701L|ANKRD12_uc010dkx.1_Missense_Mutation_p.S431L	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA.	724						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						GAAAAAAAATCAAAATTGGAA	0.274000														40			9		0	0	0.000274275	0	0
MED17	9440	broad.mit.edu	37	11	93523911	93523911	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr11:93523911C>T	uc001pem.4	+	2	864	c.589C>T	c.(589-591)Cga>Tga	p.R197*		NM_004268	NP_004259	Q9NVC6	MED17_HUMAN	Homo sapiens mediator complex subunit 17 (MED17), mRNA.	197					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CTGGAAACTTCGAAAAGTTGG	0.398000														44			24		0	0	0.000147802	0	0
TLE4	7091	broad.mit.edu	37	9	82267551	82267552	+	Missense_Mutation	DNP	CC	TT	TT	rs3186577		TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr9:82267551_82267552CC>TT	uc004ald.3	+	6	1262_1263	c.413_414CC>TT	c.(412-414)ccc>cTT	p.P138L	TLE4_uc004alc.3_Missense_Mutation_p.P145L|TLE4_uc010mpr.3_Missense_Mutation_p.P24L|TLE4_uc004ale.3_5'UTR|TLE4_uc011lsq.2_Missense_Mutation_p.P113L|TLE4_uc010mps.3_Missense_Mutation_p.P138L|TLE4_uc004alf.3_Missense_Mutation_p.P84L	NM_007005	NP_008936	O60756	BCE1_HUMAN	Homo sapiens transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) (TLE4), mRNA.	0								p.P145P(2)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CATGGTCTCCCCGTACCTCTGA	0.559000														71			33		0	0	6.4e-05	0	0
ANK3	288	broad.mit.edu	37	10	61802491	61802491	+	Silent	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr10:61802491C>T	uc001jky.3	-	42	13430	c.13092G>A	c.(13090-13092)acG>acA	p.T4364T	ANK3_uc001jkw.3_Silent_p.T988T|ANK3_uc009xpa.3_Silent_p.T987T|ANK3_uc001jkx.3_Silent_p.T1031T|ANK3_uc010qih.2_Silent_p.T1855T|ANK3_uc001jkz.4_Silent_p.T1848T|ANK3_uc001jkv.3_Silent_p.T387T	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	4364					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTCTTTCTTCGTTTTCACCT	0.398000														67			29		0	0	0.000227799	0	0
VWC2	375567	broad.mit.edu	37	7	49842381	49842382	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr7:49842381_49842382GG>AA	uc003tot.1	+	2	1327_1328	c.771_772GG>AA	c.(769-774)acggag>acAAag	p.E258K		NM_198570	NP_940972	Q2TAL6	VWC2_HUMAN	Homo sapiens von Willebrand factor C domain containing 2 (VWC2), mRNA.	258	VWFC 2.				negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						GTCCCCAGACGGAGTGTGTGGA	0.569000														106			12		0	0	6.4e-05	0	0
MLL2	8085	broad.mit.edu	37	12	49420526	49420526	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr12:49420526C>T	uc001rta.4	-	47	15223	c.15223G>A	c.(15223-15225)Ggg>Agg	p.G5075R		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	5075					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.G5075R(1)|p.I5075fs*18(1)|p.G4805R(1)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						ATCAGTGCCCCGCCCTGGGTC	0.627000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				9			16		0	0	0.000422831	0	0
MYT1L	23040	broad.mit.edu	37	2	1906872	1906872	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr2:1906872G>A	uc002qxe.3	-	13	2839	c.2012C>T	c.(2011-2013)tCc>tTc	p.S671F	MYT1L_uc002qxd.3_Missense_Mutation_p.S669F|MYT1L_uc010ewl.2_Intron	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	671					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TCCTTTGGGGGATATATCCCT	0.428000														101			50		0	0	0.000781405	0	0
LSR	51599	broad.mit.edu	37	19	35757839	35757839	+	Silent	SNP	A	C	C			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr19:35757839A>C	uc002nyl.3	+	7	1480	c.1257A>C	c.(1255-1257)cgA>cgC	p.R419R	LSR_uc010xsr.2_Silent_p.R311R|LSR_uc002nym.3_Silent_p.R400R|LSR_uc002nyn.3_Silent_p.R351R|LSR_uc002nyo.3_Silent_p.R399R|LSR_uc002nyp.3_Silent_p.R361R|USF2_uc010xss.1_5'Flank|USF2_uc002nyq.1_5'Flank|USF2_uc002nyr.1_5'Flank|USF2_uc002nyt.1_5'Flank|USF2_uc002nyv.1_5'Flank	NM_205834	NP_991403	Q86X29	LSR_HUMAN	Homo sapiens lipolysis stimulated lipoprotein receptor (LSR), transcript variant 2, mRNA.	419					embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ACCCTTCTCGACCTGGCCCCC	0.612000														29			5		0	0	3.59834e-05	0	0
MAP7	9053	broad.mit.edu	37	6	136667047	136667047	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr6:136667047C>T	uc011edg.2	-	16	2525	c.2276G>A	c.(2275-2277)gGg>gAg	p.G759E	MAP7_uc011edf.2_Missense_Mutation_p.G714E|MAP7_uc010kgu.3_Missense_Mutation_p.G751E|MAP7_uc011edh.2_Missense_Mutation_p.G714E|MAP7_uc010kgv.3_Missense_Mutation_p.G751E|MAP7_uc010kgs.3_Missense_Mutation_p.G583E|MAP7_uc011edi.2_Missense_Mutation_p.G583E|MAP7_uc010kgq.2_Missense_Mutation_p.G635E|MAP7_uc003qgz.3_Missense_Mutation_p.G729E|MAP7_uc003qha.2_Missense_Mutation_p.G692E	NM_001198609	NP_001185538	Q14244	MAP7_HUMAN	Homo sapiens microtubule-associated protein 7 (MAP7), transcript variant 3, mRNA.	729					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CCCAAGTGTCCCTTCATCATC	0.458000														13			10		0	0	6.40141e-05	0	0
NDUFAF5	79133	broad.mit.edu	37	20	13782284	13782284	+	Silent	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr20:13782284C>T	uc002wom.3	+	6	715	c.672C>T	c.(670-672)gaC>gaT	p.D224D	NDUFAF5_uc002woo.3_Non-coding_Transcript|NDUFAF5_uc002won.3_Silent_p.D196D	NM_024120	NP_077025	Q5TEU4	CT007_HUMAN	Homo sapiens chromosome 20 open reading frame 7 (C20orf7), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	224					mitochondrial respiratory chain complex I assembly	extrinsic to mitochondrial inner membrane	methyltransferase activity										CTGTCAATGACCTGGGACATC	0.433000														85			30		0	0	0.000692331	0	0
CD5L	922	broad.mit.edu	37	1	157803299	157803299	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr1:157803299G>A	uc001frk.4	-	4	865	c.722C>T	c.(721-723)cCc>cTc	p.P241L		NM_005894	NP_005885	O43866	CD5L_HUMAN	Homo sapiens CD5 molecule-like (CD5L), mRNA.	241					apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CAAGTCAAAGGGATCTGCAGG	0.458000														72			14		0	0	0.000219431	0	0
XKR5	389610	broad.mit.edu	37	8	6682798	6682798	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr8:6682798C>T	uc022aqv.1	-	2	467	c.316G>A	c.(316-318)Gag>Aag	p.E106K	XKR5_uc003wqq.3_5'UTR	NM_207411	NP_997294	Q6UX68	XKR5_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 5 (XKR5), mRNA.	106						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		AGGTCGGCCTCCTGCAGCTGC	0.612000														19			8		0	0	0.000157383	0	0
SVEP1	79987	broad.mit.edu	37	9	113221255	113221255	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr9:113221255G>A	uc010mtz.3	-	18	3798	c.3461C>T	c.(3460-3462)tCc>tTc	p.S1154F	SVEP1_uc010mua.1_Missense_Mutation_p.S1154F	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1154					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GATGGATCTGGAACCAGCGAA	0.448000														56			14		0	0	0.000566183	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502118	140502118	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr5:140502118C>T	uc003lip.1	+	0	538	c.538C>T	c.(538-540)Ctc>Ttc	p.L180F		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	180	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTTCACATTCTCACTCGAAA	0.473000														17			12		0	0	6.40141e-05	0	0
abParts	0	broad.mit.edu	37	14	106926190	106926190	+	RNA	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr14:106926190C>T	uc021ser.1	-	325		c.11678G>A								Parts of antibodies, mostly variable regions.																		CACTGTGTATCTTTTGCACAG	0.532000														122			11		0	0	0.000586117	0	0
EYA1	2138	broad.mit.edu	37	8	72184075	72184075	+	Missense_Mutation	SNP	A	C	C	rs146687496		TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr8:72184075A>C	uc003xyu.3	-	9	1524	c.884T>G	c.(883-885)tTg>tGg	p.L295W	EYA1_uc003xyt.4_Missense_Mutation_p.L262W|EYA1_uc003xyr.4_Missense_Mutation_p.L290W|EYA1_uc010lzf.3_Missense_Mutation_p.L222W|EYA1_uc003xys.4_Missense_Mutation_p.L295W|EYA1_uc011lfe.2_Missense_Mutation_p.L289W|EYA1_uc003xyv.3_Missense_Mutation_p.L173W	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	295					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			ACCTCGACGCAATCGATCAGA	0.458000														141			62		0	0	0.000781405	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947487	57947487	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr11:57947487G>A	uc021qjm.1	+	0	571	c.571G>A	c.(571-573)Gag>Aag	p.E191K	OR9Q1_uc001nmj.3_Missense_Mutation_p.E191K	NM_001005212	NP_001005212	Q8NGQ5	OR9Q1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily Q, member 1 (OR9Q1), mRNA.	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G190V(2)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				GACCTGTGGGGAGAGCTACAC	0.473000														35			25		0	0	0.00047179	0	0
ZFHX4	79776	broad.mit.edu	37	8	77619807	77619807	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr8:77619807C>T	uc003yau.2	+	2	3004	c.2617C>T	c.(2617-2619)Cgg>Tgg	p.R873W	ZFHX4_uc003yat.1_Intron|ZFHX4_uc003yaw.1_Intron	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	863						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R873R(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCCTGAAATCCGGCTTGCCAG	0.433000										HNSCC(33;0.089)				21			4		0	0	0.00024832	0	0
LOC442459	442459	broad.mit.edu	37	X	98974500	98974500	+	RNA	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chrX:98974500C>T	uc011mrd.1	-	7		c.1843G>A								Homo sapiens X-ray repair complementing defective repair pseudogene (LOC442459), non-coding RNA.																		CTGAATACTCCGCTTGGGCCT	0.453000														2			7		0	0	0.000274275	0	0
PKD1L1	168507	broad.mit.edu	37	7	47968864	47968864	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr7:47968864C>T	uc003tny.2	-	6	1031	c.997G>A	c.(997-999)Gaa>Aaa	p.E333K		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	333					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AGCCTCATTTCAACCCCAGAA	0.522000														112			98		0	0	0.000781405	0	0
ZNF611	81856	broad.mit.edu	37	19	53209661	53209661	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr19:53209661G>A	uc002pzz.3	-	6	964	c.647C>T	c.(646-648)tCa>tTa	p.S216L	ZNF611_uc010eqc.3_Missense_Mutation_p.S146L|ZNF611_uc010ydo.2_Missense_Mutation_p.S146L|ZNF611_uc010ydp.2_Missense_Mutation_p.S216L|ZNF611_uc010ydq.2_Missense_Mutation_p.S216L|ZNF611_uc010ydr.2_Missense_Mutation_p.S147L|ZNF611_uc002qaa.4_Missense_Mutation_p.S146L|ZNF611_uc021uyy.1_Missense_Mutation_p.S147L	NM_030972	NP_001154973	Q8N823	ZN611_HUMAN	Homo sapiens zinc finger protein 611 (ZNF611), transcript variant 1, mRNA.	216					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TGGGAGTAATGAAGAATTCAG	0.378000														152			40		0	0	0.000680045	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14848843	14848844	+	Missense_Mutation	DNP	CA	TT	TT			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr18:14848843_14848844CA>TT	uc010dlo.2	+	33	3133_3134	c.2953_2954CA>TT	c.(2953-2955)caa>TTa	p.Q985L	ANKRD30B_uc021uhy.1_Missense_Mutation_p.Q985L|ANKRD30B_uc010xal.1_Missense_Mutation_p.Q127L	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.	1070										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TTGTGTACTACAAAAGGAACTG	0.356000														19			6		0	0	6.4e-05	0	0
PARM1	25849	broad.mit.edu	37	4	75938300	75938300	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr4:75938300G>A	uc003hih.2	+	1	962	c.709G>A	c.(709-711)Gag>Aag	p.E237K		NM_015393	NP_056208	Q6UWI2	PARM1_HUMAN	Homo sapiens prostate androgen-regulated mucin-like protein 1 (PARM1), mRNA.	237					positive regulation of telomerase activity	Golgi membrane|early endosome|endosome membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						CATAGACATGGAGACCACCAC	0.498000														40			13		0	0	0.000219431	0	0
RBM11	54033	broad.mit.edu	37	21	15599221	15599222	+	Missense_Mutation	DNP	AG	TA	TA			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr21:15599221_15599222AG>TA	uc002yjo.4	+	4	495_496	c.453_454AG>TA	c.(451-456)ccagtg>ccTAtg	p.V152M	RBM11_uc002yjn.4_Missense_Mutation_p.V38M|RBM11_uc002yjp.4_Missense_Mutation_p.V38M	NM_144770	NP_658983	P57052	RBM11_HUMAN	Homo sapiens RNA binding motif protein 11 (RBM11), mRNA.	152							RNA binding|nucleotide binding			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		TGTATAATCCAGTGCTGCAGCT	0.396000														97			35		0	0	6.4e-05	0	0
NCAM2	4685	broad.mit.edu	37	21	22707868	22707868	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr21:22707868G>A	uc002yld.2	+	6	1030	c.781G>A	c.(781-783)Ggg>Agg	p.G261R	NCAM2_uc011acb.2_Missense_Mutation_p.G119R|NCAM2_uc011acc.2_Missense_Mutation_p.G286R	NM_004540	NP_004531	O15394	NCAM2_HUMAN	Homo sapiens neural cell adhesion molecule 2 (NCAM2), mRNA.	261	Ig-like C2-type 3.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CATATTGAAAGGGAGCAATAC	0.388000														34			4		0	0	0.000602214	0	0
SYT1	6857	broad.mit.edu	37	12	79679739	79679739	+	Silent	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr12:79679739G>A	uc001sys.3	+	5	1010	c.339G>A	c.(337-339)acG>acA	p.T113T	SYT1_uc001syt.3_Silent_p.T113T|SYT1_uc001syu.3_Silent_p.T113T|SYT1_uc001syv.3_Silent_p.T113T	NM_001135805	NP_005630	P21579	SYT1_HUMAN	Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA.	113					detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						TAGGGAAGACGATGAAAGATC	0.274000														19			11		0	0	0.000308642	0	0
SHANK3	85358	broad.mit.edu	37	22	51123067	51123067	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr22:51123067G>A	uc003bne.1	+	8	1018	c.1018G>A	c.(1018-1020)Gac>Aac	p.D340N		NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 3 (SHANK3), mRNA.	340										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GACCCACAAAGACTCGGATGT	0.572000														44			25		0	0	0.000279167	0	0
CHD1	1105	broad.mit.edu	37	5	98230354	98230354	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr5:98230354G>A	uc003knf.3	-	11	1895	c.1747C>T	c.(1747-1749)Cgg>Tgg	p.R583W		NM_001270	NP_001261	O14646	CHD1_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 1 (CHD1), mRNA.	583	Helicase ATP-binding.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	AATTTTAACCGTTTGGTCTGA	0.259000														8			5		0	0	8.12818e-05	0	0
CCDC141	285025	broad.mit.edu	37	2	179702368	179702368	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr2:179702368T>C	uc002une.2	-	22	3696	c.3578A>G	c.(3577-3579)gAc>gGc	p.D1193G	CCDC141_uc002unf.1_Missense_Mutation_p.D672G	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	618							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CAGGAGCAGGTCCTGGACGCC	0.562000														75			39		0	0	0.000781405	0	0
IKBKAP	8518	broad.mit.edu	37	9	111641823	111641823	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr9:111641823G>A	uc004bdm.4	-	32	3995	c.3475C>T	c.(3475-3477)Cac>Tac	p.H1159Y	IKBKAP_uc004bdl.3_Missense_Mutation_p.H810Y|IKBKAP_uc011lwc.2_Missense_Mutation_p.H1045Y|IKBKAP_uc010mtq.3_Missense_Mutation_p.H810Y|IKBKAP_uc004bdk.3_Missense_Mutation_p.H163Y|IKBKAP_uc010mtp.3_Non-coding_Transcript	NM_003640	NP_003631	O95163	ELP1_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein (IKBKAP), mRNA.	1159					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme|cytoplasm|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TCTTGCCCGTGGGGTACCTCA	0.468000														26			8		0	0	0.000274275	0	0
ACSF2	80221	broad.mit.edu	37	17	48539911	48539911	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr17:48539911T>C	uc010wmm.1	+	6	936	c.832T>C	c.(832-834)Tcc>Ccc	p.S278P	ACSF2_uc002iqu.2_Missense_Mutation_p.S253P|ACSF2_uc010wml.1_Missense_Mutation_p.S210P|ACSF2_uc010wmn.1_Missense_Mutation_p.S240P|ACSF2_uc010wmo.1_Missense_Mutation_p.S93P	NM_025149	NP_079425	Q96CM8	ACSF2_HUMAN	Homo sapiens acyl-CoA synthetase family member 2 (ACSF2), mRNA.	253					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GCAGTTCCTGTCCTGCCATGA	0.617000														48			7		0	0	0.000157383	0	0
CHST8	64377	broad.mit.edu	37	19	34263477	34263477	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr19:34263477G>A	uc002nus.4	+	4	1289	c.784G>A	c.(784-786)Gag>Aag	p.E262K	CHST8_uc002nut.4_Missense_Mutation_p.E262K|CHST8_uc002nuu.3_Missense_Mutation_p.E262K	NM_001127895	NP_071912	Q9H2A9	CHST8_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 (CHST8), transcript variant 2, mRNA.	262					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					CGAGCCCTTCGAGAGGCTGGT	0.617000														42			38		0	0	0.000437636	0	0
TXNDC2	84203	broad.mit.edu	37	18	9886650	9886650	+	Silent	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr18:9886650C>T	uc002koi.4	+	1	623	c.174C>T	c.(172-174)gcC>gcT	p.A58A	TXNDC2_uc002koh.4_5'UTR|TXNDC2_uc021ugx.1_5'Flank	NM_001098529	NP_115619	Q86VQ3	TXND2_HUMAN	Homo sapiens thioredoxin domain containing 2 (spermatozoa) (TXNDC2), transcript variant 2, mRNA.	58					cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						TGGAAATAGCCCAGGCCAAAG	0.478000														41			22		0	0	0.000227799	0	0
PTPRU	10076	broad.mit.edu	37	1	29587201	29587201	+	Silent	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr1:29587201C>T	uc001bru.3	+	6	1059	c.930C>T	c.(928-930)tcC>tcT	p.S310S	PTPRU_uc009vtq.3_Silent_p.S310S|PTPRU_uc009vtr.3_Silent_p.S310S|PTPRU_uc001brw.3_Silent_p.S310S	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	310	Fibronectin type-III 1.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		ACACCAACTCCATCATTGGCG	0.657000														33			6		0	0	3.59834e-05	0	0
TP53BP1	7158	broad.mit.edu	37	15	43783950	43783950	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr15:43783950G>A	uc001zrs.3	-	4	420	c.272_splice	c.e4-1	p.D91_splice	TP53BP1_uc010udp.2_Splice_Site_p.D91_splice|TP53BP1_uc001zrq.4_Splice_Site_p.D96_splice|TP53BP1_uc001zrr.4_Splice_Site_p.D96_splice|TP53BP1_uc010udq.1_Splice_Site_p.D96_splice	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	91					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		AATCCACAGGGTCTGAAAAAA	0.383000								Other conserved DNA damage response genes						74			50		0	0	0.000781405	0	0
CABP2	51475	broad.mit.edu	37	11	67287292	67287292	+	Silent	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr11:67287292G>A	uc001ome.1	-	5	715	c.627C>T	c.(625-627)ctC>ctT	p.L209L	CABP2_uc001omc.1_Silent_p.L203L			Q9NPB3	CABP2_HUMAN	Homo sapiens calcium binding protein 2 (CABP2), mRNA.	203	EF-hand 4.				signal transduction	Golgi apparatus|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	9						CGTCCCCATTGAGGTCCACGT	0.652000														20			21		0	0	0.000720815	0	0
PDE6B	5158	broad.mit.edu	37	4	619541	619541	+	Silent	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr4:619541G>A	uc003gap.3	+	0	179	c.126G>A	c.(124-126)ccG>ccA	p.P42P	PDE6B_uc003gao.4_Silent_p.P42P	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	42					GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.P42Q(1)		NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						GGTGCCCGCCGGACTGCGACA	0.642000														43			31		0	0	0.000814825	0	0
LRMP	4033	broad.mit.edu	37	12	25243071	25243071	+	Silent	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr12:25243071C>T	uc001rgh.3	+	12	1640	c.546C>T	c.(544-546)tcC>tcT	p.S182S	LRMP_uc010sja.2_Silent_p.S182S|LRMP_uc010sjc.2_Silent_p.S182S|LRMP_uc001rgi.3_Non-coding_Transcript|LRMP_uc010sjb.2_Silent_p.S129S|LRMP_uc010sjd.2_Silent_p.S129S	NM_006152	NP_006143	Q12912	LRMP_HUMAN	Homo sapiens lymphoid-restricted membrane protein (LRMP), transcript variant 1, mRNA.	238					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					AAGAGAGGTCCCGTGACTTGG	0.363000														44			145		0	0	0.000781405	0	0
TM9SF2	9375	broad.mit.edu	37	13	100204470	100204470	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr13:100204470G>C	uc001voj.1	+	12	1511	c.1378G>C	c.(1378-1380)Gga>Cga	p.G460R	TM9SF2_uc010afz.1_Missense_Mutation_p.G295R	NM_004800	NP_004791	Q99805	TM9S2_HUMAN	Homo sapiens transmembrane 9 superfamily member 2 (TM9SF2), mRNA.	460					transport	endosome membrane|integral to plasma membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					CTGGGGAGAAGGATCTTCAGC	0.418000														68			25		0	0	0.000720815	0	0
KCNQ3	3786	broad.mit.edu	37	8	133152391	133152391	+	Silent	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr8:133152391C>T	uc003ytj.3	-	10	1725	c.1500G>A	c.(1498-1500)agG>agA	p.R500R	KCNQ3_uc003yti.3_Silent_p.R380R|KCNQ3_uc010mdt.3_Silent_p.R500R	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	500					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TCCCATAGCCCCTGTCTTCCG	0.617000														22			12		0	0	6.40141e-05	0	0
KRT84	3890	broad.mit.edu	37	12	52775309	52775309	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr12:52775309C>T	uc001sah.1	-	5	961	c.913_splice	c.e5-1	p.E305_splice		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	Homo sapiens keratin 84 (KRT84), mRNA.	305	Coil 1B.|Rod.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AACTGGATTTCCTGTGTTGGA	0.542000														86			61		0	0	0.000781405	0	0
SLC22A16	85413	broad.mit.edu	37	6	110777985	110777985	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr6:110777985C>T	uc003puf.3	-	1	356	c.289G>A	c.(289-291)Gag>Aag	p.E97K	SLC22A16_uc003pue.3_Missense_Mutation_p.E78K|SLC22A16_uc003pug.3_Missense_Mutation_p.E97K	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA.	97					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		CTTGAGAGCTCCCAGATCTCA	0.473000														122			17		0	0	0.000229342	0	0
KCTD8	386617	broad.mit.edu	37	4	44177176	44177176	+	Silent	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr4:44177176G>A	uc003gwu.3	-	1	1337	c.1053C>T	c.(1051-1053)tcC>tcT	p.S351S		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 8 (KCTD8), mRNA.	351						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						GCTCATTACAGGAAGTCCCAC	0.468000										HNSCC(17;0.042)				95			23		0	0	0.00047179	0	0
NID1	4811	broad.mit.edu	37	1	236143949	236143950	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr1:236143949_236143950GG>AA	uc001hxo.3	-	16	3333_3334	c.3231_3232CC>TT	c.(3229-3234)aacctt>aaTTtt	p.L1078F	NID1_uc009xgd.3_Missense_Mutation_p.L945F|NID1_uc009xgc.3_Missense_Mutation_p.L159F	NM_002508	NP_002499	P14543	NID1_HUMAN	Homo sapiens nidogen 1 (NID1), mRNA.	1078					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GTCCAGTAAAGGTTCCTGGAGG	0.436000														29			25		0	0	6.4e-05	0	0
CYP11B1	1584	broad.mit.edu	37	8	143959214	143959214	+	Silent	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr8:143959214G>A	uc010mey.3	-	3	574	c.567C>T	c.(565-567)ttC>ttT	p.F189F	CYP11B1_uc010mex.3_5'Flank|CYP11B1_uc003yxh.3_5'Flank|CYP11B1_uc003yxi.3_Intron|CYP11B1_uc003yxj.3_Intron	NM_000497	NP_000488	P15538	C11B1_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	133					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	TGCCCCCAGGGAATGGTGGGG	0.522000									Familial Hyperaldosteronism type I					36			8		0	0	0.00010058	0	0
OR5K4	403278	broad.mit.edu	37	3	98072744	98072744	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr3:98072744G>A	uc011bgv.2	+	0	47	c.47G>A	c.(46-48)gGa>gAa	p.G16E		NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 4 (OR5K4), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						ATCCTCATAGGATTTACAAAT	0.418000														49			15		0	0	0.000422831	0	0
C1orf87	127795	broad.mit.edu	37	1	60505724	60505724	+	Silent	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr1:60505724G>A	uc001czs.2	-	4	720	c.612C>T	c.(610-612)atC>atT	p.I204I		NM_152377	NP_689590	Q8N0U7	CA087_HUMAN	Homo sapiens chromosome 1 open reading frame 87 (C1orf87), mRNA.	204							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TTGGGTCCAGGATCTTCAGCT	0.428000														87			28		0	0	0.000279167	0	0
GPR158	57512	broad.mit.edu	37	10	25887683	25887683	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr10:25887683C>T	uc001isj.3	+	10	3188	c.3128C>T	c.(3127-3129)tCc>tTc	p.S1043F	GPR158_uc001isk.3_Missense_Mutation_p.S418F	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	1043						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CCCACTTTTTCCTTAAAGGAG	0.453000														48			9		0	0	0.000274275	0	0
HELQ	113510	broad.mit.edu	37	4	84347178	84347179	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr4:84347178_84347179CC>AA	uc003hom.3	-	13	2922_2923	c.2743_2744GG>TT	c.(2743-2745)ggg>TTg	p.G915L	HELQ_uc010ikb.3_Missense_Mutation_p.G848L|HELQ_uc003hol.4_Non-coding_Transcript|HELQ_uc010ikc.3_Non-coding_Transcript	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN	Homo sapiens helicase, POLQ-like (HELQ), mRNA.	915							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						TGCTTTCTTCCCAATAAAGCTT	0.391000								Other identified genes with known or suspected DNA repair function						299			10		0	0	6.4e-05	0	0
DSC3	1825	broad.mit.edu	37	18	28576937	28576937	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr18:28576937C>T	uc002kwj.4	-	14	2468	c.2313G>A	c.(2311-2313)atG>atA	p.M771I	DSC3_uc002kwi.4_Missense_Mutation_p.M771I	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	771					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CTCCATTTTTCATTCCTGATC	0.443000														24			6		0	0	3.59834e-05	0	0
C15orf55	256646	broad.mit.edu	37	15	34640410	34640410	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr15:34640410G>A	uc010ucc.2	+	2	723	c.341G>A	c.(340-342)gGc>gAc	p.G114D	C15orf55_uc010ucd.2_Missense_Mutation_p.G104D|C15orf55_uc001zif.3_Missense_Mutation_p.G86D	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	86	Pro-rich.					cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		GCTGGGGCTGGCAAGGTCATT	0.557000			T	"""BRD3, BRD4"""	lethal midline carcinoma									39			15		0	0	0.000219431	0	0
RGS21	431704	broad.mit.edu	37	1	192335123	192335123	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr1:192335123G>A	uc001gsh.3	+	4	502	c.328G>A	c.(328-330)Gag>Aag	p.E110K		NM_001039152	NP_001034241	Q2M5E4	RGS21_HUMAN	Homo sapiens regulator of G-protein signaling 21 (RGS21), mRNA.	110	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						ATGCTTTGATGAGGCTCAGAA	0.378000														44			62		0	0	0.000781405	0	0
SNX31	169166	broad.mit.edu	37	8	101620768	101620768	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr8:101620768G>A	uc003yjr.3	-	7	786	c.635C>T	c.(634-636)tCc>tTc	p.S212F	SNX31_uc011lha.2_Missense_Mutation_p.S7F|SNX31_uc011lhb.2_Missense_Mutation_p.S113F	NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	Homo sapiens sorting nexin 31 (SNX31), mRNA.	212					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			CATCAGCACGGAGTCGAGGGA	0.527000														25			25		0	0	0.000878237	0	0
FKBPL	63943	broad.mit.edu	37	6	32096980	32096980	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr6:32096980G>C	uc003nzr.3	-	1	848	c.578C>G	c.(577-579)aCt>aGt	p.T193S	ATF6B_uc003nzn.3_5'Flank|ATF6B_uc003nzo.3_5'Flank|ATF6B_uc011dpg.2_5'Flank|ATF6B_uc011dph.2_5'Flank|FKBPL_uc021yvh.1_Missense_Mutation_p.T193S	NM_022110	NP_071393	Q9UIM3	FKBPL_HUMAN	Homo sapiens FK506 binding protein like (FKBPL), mRNA.	193					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity										TCGGCCTTGAGTGAAGGATGC	0.567000														470			77		0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179495667	179495667	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr2:179495667C>A	uc021vsy.1	-	186	36539	c.36314G>T	c.(36313-36315)cGg>cTg	p.R12105L	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R5800L|TTN_uc021vta.1_Missense_Mutation_p.R5733L|TTN_uc021vtb.1_Missense_Mutation_p.R5608L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13032	Ig-like 80.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E12105V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTAATTTCCCGATCTAGAAA	0.473000														42			13		5.50884e-06	6.96117e-05	0.00010058	1	0
PPRC1	23082	broad.mit.edu	37	10	103906857	103906857	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr10:103906857C>G	uc001kum.3	+	8	4147	c.4108C>G	c.(4108-4110)Ctt>Gtt	p.L1370V	PPRC1_uc001kun.3_Missense_Mutation_p.L1250V|PPRC1_uc010qqj.2_Intron|PPRC1_uc009xxa.3_Intron	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.	1370					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AGCACCCTGCCTTGCCCCATC	0.642000														14			6		0	0	3.59834e-05	0	0
CCBE1	147372	broad.mit.edu	37	18	57103350	57103350	+	Silent	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr18:57103350G>A	uc002lib.3	-	10	1081	c.1011C>T	c.(1009-1011)ttC>ttT	p.F337F	CCBE1_uc010dpq.3_Silent_p.F66F|CCBE1_uc002lia.3_Silent_p.F190F	NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN	Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA.	337					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				TAAGTAGCAGGAAGTCGAAAG	0.537000														42			26		0	0	0.000227799	0	0
DAB1	1600	broad.mit.edu	37	1	57491655	57491655	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr1:57491655G>A	uc009vzx.1	-	10	1106	c.786_splice	c.e10+1	p.P262_splice	DAB1_uc001cyt.1_Splice_Site_p.P260_splice|DAB1_uc001cyq.1_Splice_Site_p.P260_splice|DAB1_uc001cyr.1_Splice_Site_p.P176_splice|DAB1_uc009vzw.1_Splice_Site_p.P244_splice|DAB1_uc001cys.1_Splice_Site_p.P262_splice	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	295					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CATACTTACGGGGGGAGAGGT	0.458000														121			29		0	0	0.000692331	0	0
OR8B8	26493	broad.mit.edu	37	11	124310904	124310904	+	Silent	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr11:124310904G>A	uc010sal.2	-	0	78	c.78C>T	c.(76-78)ccC>ccT	p.P26P		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 8 (OR8B8), mRNA.	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GGAAGAAGAGGGGGATCTGGA	0.512000														40			7		0	0	0.000274275	0	0
FAM179B	23116	broad.mit.edu	37	14	45513962	45513962	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr14:45513962C>T	uc001wvw.3	+	12	4252	c.4043C>T	c.(4042-4044)gCt>gTt	p.A1348V	FAM179B_uc001wvv.3_Missense_Mutation_p.A1348V|FAM179B_uc010anc.3_Non-coding_Transcript	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	Homo sapiens family with sequence similarity 179, member B (FAM179B), mRNA.	1348							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TTGCACAAGGCTGGTGAATCA	0.368000														46			18		0	0	0.00074312	0	0
SLC6A3	6531	broad.mit.edu	37	5	1441562	1441562	+	Silent	SNP	C	T	T	rs112801202		TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr5:1441562C>T	uc003jck.3	-	2	456	c.330G>A	c.(328-330)ggG>ggA	p.G110G		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	110					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	AAAGTGGCATCCCAGCAATGA	0.577000														31			4		0	0	0.000602214	0	0
NCOR2	9612	broad.mit.edu	37	12	124841297	124841297	+	Silent	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr12:124841297C>T	uc021rga.1	-	22	3270	c.3153G>A	c.(3151-3153)ggG>ggA	p.G1051G	NCOR2_uc021rgb.1_Silent_p.G1035G|NCOR2_uc010tbb.2_Silent_p.G1044G|NCOR2_uc010tbc.2_Silent_p.G1034G|NCOR2_uc021rgc.1_Silent_p.G1034G|NCOR2_uc010tba.2_Silent_p.G1052G|NCOR2_uc001ugj.1_Silent_p.G1052G	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	1052					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		AAGGGGGGTCCCCAGGCAGCT	0.692000														6			5		0	0	0.000602214	0	0
ZNF90	7643	broad.mit.edu	37	19	20215083	20215083	+	Silent	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr19:20215083C>T	uc002nor.2	+	1	178	c.39C>T	c.(37-39)ttC>ttT	p.F13F	ZNF90_uc021url.1_Intron	NM_007138	NP_009069	Q03938	ZNF90_HUMAN	Homo sapiens zinc finger protein 90 (ZNF90), mRNA.	13	KRAB.					Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						CCATAGAATTCTCTCTGGAGG	0.423000														54			31		0	0	0.000491102	0	0
TBX15	6913	broad.mit.edu	37	1	119427402	119427402	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr1:119427402C>T	uc001ehl.1	-	7	1759	c.1444G>A	c.(1444-1446)Ggg>Agg	p.G482R	TBX15_uc009whj.1_Missense_Mutation_p.G306R	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	Homo sapiens T-box 15 (TBX15), mRNA.	588						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.Y481F(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GGAACTGCCCCATACTGCCGG	0.562000														56			40		0	0	0.000781405	0	0
SYT7	9066	broad.mit.edu	37	11	61291401	61291401	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr11:61291401C>T	uc001nrv.3	-	6	857	c.805G>A	c.(805-807)Gag>Aag	p.E269K	SYT7_uc009ynr.3_Missense_Mutation_p.E344K	NM_004200	NP_004191	O43581	SYT7_HUMAN	Homo sapiens synaptotagmin VII (SYT7), transcript variant 2, mRNA.	269	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AAGAGCAGCTCCCCTCGGCTC	0.602000														59			26		0	0	0.000720815	0	0
OR14A16	284532	broad.mit.edu	37	1	247978756	247978756	+	Silent	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr1:247978756G>A	uc001idm.1	-	0	276	c.276C>T	c.(274-276)ttC>ttT	p.F92F		NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily A, member 16 (OR14A16), mRNA.	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F92L(2)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						CACAGCCAAGGAATGAAATGG	0.438000														31			33		0	0	0.00058488	0	0
PGC	5225	broad.mit.edu	37	6	41705561	41705561	+	Silent	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr6:41705561G>A	uc003ora.2	-	7	988	c.921C>T	c.(919-921)ctC>ctT	p.L307L	TFEB_uc003oqs.1_5'Flank|TFEB_uc003oqt.1_5'Flank|TFEB_uc003oqu.1_5'Flank|TFEB_uc010jxq.1_5'Flank	NM_002630	NP_002621	P20142	PEPC_HUMAN	Homo sapiens progastricsin (pepsinogen C) (PGC), transcript variant 1, mRNA.	307					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			TACAGTTCACGAGAAACTGCA	0.532000														29			5		0	0	3.59834e-05	0	0
C7orf26	79034	broad.mit.edu	37	7	6639599	6639599	+	Silent	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr7:6639599C>T	uc003sqo.1	+	3	720	c.720C>T	c.(718-720)ctC>ctT	p.L240L	C7orf26_uc003sqp.1_Intron	NM_024067	NP_076972	Q96N11	CG026_HUMAN	Homo sapiens chromosome 7 open reading frame 26 (C7orf26), mRNA.	240										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		TCACCCCGCTCGTTGGATTGA	0.483000														79			9		0	0	0.000274275	0	0
CXCR2	3579	broad.mit.edu	37	2	219000495	219000495	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr2:219000495G>A	uc002vgz.2	+	3	1181	c.971G>A	c.(970-972)gGa>gAa	p.G324E	CXCR2_uc002vha.2_Missense_Mutation_p.G324E|CXCR2_uc002vhb.2_Missense_Mutation_p.G324E|CXCR2_uc021vwp.1_Missense_Mutation_p.G324E	NM_001168298	NP_001548	P25025	CXCR2_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 2 (CXCR2), transcript variant 2, mRNA.	324					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						TTTCGCCATGGACTCCTCAAG	0.547000														86			38		0	0	0.000680045	0	0
LSM10	84967	broad.mit.edu	37	1	36859386	36859386	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr1:36859386C>T	uc001cao.1	-	1	495	c.345G>A	c.(343-345)tgG>tgA	p.W115*	LSM10_uc021olj.1_Nonsense_Mutation_p.W115*	NM_032881	NP_116270	Q969L4	LSM10_HUMAN	Homo sapiens LSM10, U7 small nuclear RNA associated (LSM10), mRNA.	115					RNA splicing|S phase of mitotic cell cycle|histone mRNA metabolic process|mRNA processing|termination of RNA polymerase II transcription	Cajal body|U7 snRNP	histone pre-mRNA DCP binding|protein binding			upper_aerodigestive_tract(1)|urinary_tract(1)	2		Myeloproliferative disorder(586;0.0393)				GGGGAAATTCCCACCGGCCTT	0.572000														69			13		0	0	0.00010058	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43826231	43826231	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr12:43826231G>A	uc010skx.2	-	20	2972	c.2972C>T	c.(2971-2973)tCt>tTt	p.S991F	ADAMTS20_uc001rno.1_Missense_Mutation_p.S145F|ADAMTS20_uc001rnp.1_Missense_Mutation_p.S145F	NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	991	TSP type-1 4.					proteinaceous extracellular matrix	zinc ion binding	p.C991W(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CATACAATAAGATTCTCGAGA	0.378000														38			45		0	0	0.000781405	0	0
ERG	2078	broad.mit.edu	37	21	39774506	39774506	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr21:39774506G>T	uc010gnw.3	-	6	962	c.667C>A	c.(667-669)Cca>Aca	p.P223T	ERG_uc021wjd.1_Missense_Mutation_p.P223T|ERG_uc002yxa.3_Missense_Mutation_p.P216T|ERG_uc011aek.2_Missense_Mutation_p.P124T|ERG_uc010gnv.3_Missense_Mutation_p.P124T|ERG_uc010gnx.3_Missense_Mutation_p.P223T|ERG_uc011ael.2_Missense_Mutation_p.P223T|ERG_uc002yxb.3_Missense_Mutation_p.P223T|ERG_uc011aem.1_Intron|ERG_uc002yxc.4_Missense_Mutation_p.P223T|ERG_uc010gny.1_Intron	NM_001243428	NP_001230357	P11308	ERG_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), transcript variant 5, mRNA.	223					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				ATTAACCGTGGAGAGTTTTGT	0.438000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""									37			14		2.23348e-06	2.83896e-05	0.000422831	1	0
TPTEP1	387590	broad.mit.edu	37	22	17179052	17179052	+	RNA	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr22:17179052G>A	uc002zls.1	+	2		c.1134G>A								Homo sapiens transmembrane phosphatase with tensin homology pseudogene 1 (TPTEP1), non-coding RNA.																		AGTGGCTGCAGAAAAGAGCGA	0.532000														1			3		0	0	0.00024832	0	0
STMN2	11075	broad.mit.edu	37	8	80553695	80553696	+	Missense_Mutation	DNP	AG	TA	TA			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr8:80553695_80553696AG>TA	uc022awk.1	+	2	580_581	c.198_199AG>TA	c.(196-201)gaagcc>gaTAcc	p.66_67EA>DT	STMN2_uc003ybj.3_Missense_Mutation_p.66_67EA>DT|STMN2_uc010lzp.3_Non-coding_Transcript	NM_001199214	NP_001186143	Q93045	STMN2_HUMAN	Homo sapiens stathmin-like 2 (STMN2), transcript variant 1, mRNA.	66	Regulatory/phosphorylation domain (Potential).				intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development	axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			CTATCTCAGAAGCCCCACGAAC	0.455000														48			20		0	0	6.4e-05	0	0
CXXC11	285093	broad.mit.edu	37	2	242814328	242814328	+	Silent	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr2:242814328C>T	uc010fzu.1	+	1	644	c.621C>T	c.(619-621)tcC>tcT	p.S207S		NM_173821	NP_776182	Q14D33	CB085_HUMAN	Homo sapiens CXXC finger protein 11 (CXXC11), mRNA.	207						integral to membrane											TCCCCTTCTCCCTTGTGGGTA	0.682000														27			8		0	0	0.000673444	0	0
MAPK12	6300	broad.mit.edu	37	22	50693885	50693885	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr22:50693885G>C	uc003bkm.1	-	9	998	c.847C>G	c.(847-849)Ctg>Gtg	p.L283V	MAPK12_uc003bko.2_Missense_Mutation_p.L193V|MAPK12_uc003bkl.1_Missense_Mutation_p.L273V|MAPK12_uc003bkq.2_Missense_Mutation_p.L102V	NM_002969	NP_002960	P53778	MK12_HUMAN	Homo sapiens mitogen-activated protein kinase 12 (MAPK12), mRNA.	283	Protein kinase.				DNA damage induced protein phosphorylation|Ras protein signal transduction|cell cycle arrest|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation	mitochondrion|nucleoplasm	ATP binding|MAP kinase activity|magnesium ion binding|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCCGTACCCAGAGGGCTTGCA	0.612000														28			24		0	0	0.000720815	0	0
LRRC2	79442	broad.mit.edu	37	3	46586549	46586550	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr3:46586549_46586550CC>AA	uc010hji.3	-	2	712_713	c.319_320GG>TT	c.(319-321)ggg>TTg	p.G107L	LRRC2_uc003cpu.4_Missense_Mutation_p.G107L	NM_024512	NP_078788	Q9BYS8	LRRC2_HUMAN	Homo sapiens leucine rich repeat containing 2 (LRRC2), mRNA.	107										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		CCAGTGCTCCCCAGAAAGTTCA	0.530000														181			9		0	0	6.4e-05	0	0
DNAH11	8701	broad.mit.edu	37	7	21934243	21934243	+	Silent	SNP	T	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr7:21934243T>A	uc003svc.3	+	78	12805	c.12774T>A	c.(12772-12774)gtT>gtA	p.V4258V		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	4258					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GATTTAAGGTTAAGAATGTCT	0.328000									Kartagener syndrome					102			24		0	0	0.00047179	0	0
PPP1R10	5514	broad.mit.edu	37	6	30572382	30572382	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr6:30572382G>A	uc003nqn.1	-	11	1637	c.1085C>T	c.(1084-1086)cCg>cTg	p.P362L	PPP1R10_uc010jsc.1_Missense_Mutation_p.P16L	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 10 (PPP1R10), mRNA.	362					protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|RNA binding|protein phosphatase inhibitor activity|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						CATGAGCTCCGGGACTTCAAC	0.542000														197			44		0	0	0.000781405	0	0
TBC1D9	23158	broad.mit.edu	37	4	141598154	141598154	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr4:141598154G>A	uc010ioj.3	-	5	1225	c.953C>T	c.(952-954)cCa>cTa	p.P318L		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	318	GRAM 2.					intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TTTGTTAAATGGAGTCCAGAG	0.453000														84			60		0	0	0.000781405	0	0
MGAM	8972	broad.mit.edu	37	7	141803141	141803141	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr7:141803141G>A	uc003vwy.3	+	46	5452	c.5398G>A	c.(5398-5400)Gaa>Aaa	p.E1800K		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1800	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GGGCTACATTGAAATCTGGGG	0.428000														32			5		0	0	0.000602214	0	0
ADNP	23394	broad.mit.edu	37	20	49509856	49509856	+	Silent	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr20:49509856G>A	uc002xvt.1	-	4	1740	c.1395C>T	c.(1393-1395)ttC>ttT	p.F465F	ADNP_uc002xvu.1_Silent_p.F465F	NM_015339	NP_852107	Q9H2P0	ADNP_HUMAN	Homo sapiens activity-dependent neuroprotector homeobox (ADNP), transcript variant 1, mRNA.	465						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.F465F(2)		NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						GTTCTTTTTCGAAGTGCACAC	0.388000														198			79		0	0	0.000781405	0	0
CPXM1	56265	broad.mit.edu	37	20	2777035	2777035	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr20:2777035C>T	uc002wgu.3	-	8	1174	c.1100G>A	c.(1099-1101)cGg>cAg	p.R367Q	CPXM1_uc010gas.3_Missense_Mutation_p.R367Q	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 1 (CPXM1), transcript variant 1, mRNA.	367					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						AAGCAACTCCCGCCCCAGGGC	0.652000														63			16		0	0	0.00074312	0	0
NRXN1	9378	broad.mit.edu	37	2	50170887	50170887	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr2:50170887C>T	uc021vhh.1	-	19	5002	c.4081G>A	c.(4081-4083)Gat>Aat	p.D1361N	NRXN1_uc010fbp.3_Missense_Mutation_p.D326N|NRXN1_uc002rxb.4_Missense_Mutation_p.D1063N|NRXN1_uc021vhg.1_Missense_Mutation_p.D1431N|NRXN1_uc021vhi.1_Missense_Mutation_p.D1427N|NRXN1_uc021vhj.1_Missense_Mutation_p.D1357N|NRXN1_uc002rxa.4_Missense_Mutation_p.D26N|NRXN1_uc010yon.2_Missense_Mutation_p.D26N	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	1361					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCCTCATCATCGCTGGGACAC	0.438000														21			14		0	0	0.000308642	0	0
C1orf168	199920	broad.mit.edu	37	1	57185941	57185941	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr1:57185941C>T	uc001cym.4	-	17	2442	c.2036G>A	c.(2035-2037)gGa>gAa	p.G679E	C1orf168_uc001cyl.3_Non-coding_Transcript	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	679								p.G679V(2)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						ATCAAATATTCCATTTCTTGA	0.348000														63			22		0	0	0.00047179	0	0
USH2A	7399	broad.mit.edu	37	1	216465577	216465577	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr1:216465577G>A	uc001hku.1	-	9	2167	c.1780C>T	c.(1780-1782)Cct>Tct	p.P594S	USH2A_uc001hkv.3_Missense_Mutation_p.P594S	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	594	Laminin EGF-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGCTCAAAAGGAAATGGGTCT	0.433000										HNSCC(13;0.011)				95			5		0	0	8.12818e-05	0	0
LPIN3	64900	broad.mit.edu	37	20	39978454	39978454	+	Nonsense_Mutation	SNP	G	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr20:39978454G>T	uc010ggh.3	+	5	773	c.682G>T	c.(682-684)Gag>Tag	p.E228*	LPIN3_uc002xjx.3_Nonsense_Mutation_p.E227*|LPIN3_uc010zwf.2_Non-coding_Transcript	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN	Homo sapiens lipin 3 (LPIN3), mRNA.	227					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				GAGCGACTCGGAGCTGGAGGT	0.632000														27			10		5.50884e-06	6.96117e-05	0.00010058	1	0
TMPRSS4	56649	broad.mit.edu	37	11	117965536	117965536	+	Silent	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr11:117965536G>A	uc021qrd.1	+	1	300	c.9G>A	c.(7-9)caG>caA	p.Q3Q	TMPRSS4_uc009yzu.3_Splice_Site|TMPRSS4_uc021qre.1_Silent_p.Q3Q|TMPRSS4_uc010rxo.2_Splice_Site_p.D2_splice|TMPRSS4_uc010rxs.2_Splice_Site_p.D2_splice|TMPRSS4_uc010rxq.2_Splice_Site|TMPRSS4_uc010rxr.2_Splice_Site|TMPRSS4_uc010rxt.2_5'UTR	NM_019894	NP_063947	Q9NRS4	TMPS4_HUMAN	Homo sapiens transmembrane protease, serine 4 (TMPRSS4), transcript variant 1, mRNA.	3					proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		TTCAATTACAGGATCCTGACA	0.512000														11			4		0	0	8.12818e-05	0	0
PRSS12	8492	broad.mit.edu	37	4	119256736	119256736	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr4:119256736G>A	uc003ica.2	-	2	759	c.712C>T	c.(712-714)Cgt>Tgt	p.R238C		NM_003619	NP_003610	P56730	NETR_HUMAN	Homo sapiens protease, serine, 12 (neurotrypsin, motopsin) (PRSS12), mRNA.	238	SRCR 1.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						CCTCGGCAACGGACATTGCTC	0.453000														73			30		0	0	0.000491102	0	0
DIP2A	23181	broad.mit.edu	37	21	47971610	47971611	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr21:47971610_47971611CC>GT	uc002zjo.2	+	23	3086_3087	c.2903_2904CC>GT	c.(2902-2904)tcc>tGT	p.S968C	DIP2A_uc011afy.1_Missense_Mutation_p.S904C|DIP2A_uc011afz.1_Missense_Mutation_p.S964C	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA.	968					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GCTCAGGCTTCCGGGAGAGAGC	0.624000														23			8		0	0	6.4e-05	0	0
PARP9	83666	broad.mit.edu	37	3	122269585	122269585	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr3:122269585G>A	uc010hri.3	-	5	1422	c.1277C>T	c.(1276-1278)tCc>tTc	p.S426F	PARP9_uc003eff.4_Missense_Mutation_p.S391F|PARP9_uc011bjs.2_Missense_Mutation_p.S391F|PARP9_uc003efg.3_Intron|PARP9_uc003efi.3_Missense_Mutation_p.S391F|PARP9_uc003efh.3_Missense_Mutation_p.S426F|PARP9_uc003efj.2_Missense_Mutation_p.S391F	NM_001146102	NP_113646	Q8IXQ6	PARP9_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 9 (PARP9), transcript variant 2, mRNA.	426	Macro 2.				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		GGCAGGAAAGGAAATGGAAGT	0.348000														27			14		0	0	0.00074312	0	0
PLS3	5358	broad.mit.edu	37	X	114863527	114863527	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chrX:114863527A>C	uc004eqe.3	+	3	389	c.255A>C	c.(253-255)aaA>aaC	p.K85N	PLS3_uc010nqf.3_Non-coding_Transcript|PLS3_uc010nqg.3_Intron|PLS3_uc004eqd.3_Missense_Mutation_p.K85N|PLS3_uc011mtf.2_Missense_Mutation_p.K63N|PLS3_uc011mth.2_Missense_Mutation_p.K40N|PLS3_uc011mtg.2_Missense_Mutation_p.K58N	NM_001136025	NP_005023	P13797	PLST_HUMAN	Homo sapiens plastin 3 (PLS3), transcript variant 2, mRNA.	85	EF-hand 2.					cytoplasm	actin binding|calcium ion binding			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						AAGAGGTAAAAAGTAGTGATA	0.333000														8			9		0	0	0.000274275	0	0
RP1	6101	broad.mit.edu	37	8	55540336	55540336	+	Silent	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr8:55540336C>T	uc003xsd.1	+	3	4042	c.3894C>T	c.(3892-3894)ttC>ttT	p.F1298F	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1298					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGGCTTGTTTCCTAGGAGAGG	0.413000														81			57		0	0	0.000781405	0	0
AGBL1	123624	broad.mit.edu	37	15	86790961	86790961	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr15:86790961C>T	uc002blz.1	+	5	528	c.448C>T	c.(448-450)Cag>Tag	p.Q150*		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	150					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.Q150R(1)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CGGGCTGCACCAGGACTGGCA	0.632000														13			9		0	0	0.000442599	0	0
TMEM184A	202915	broad.mit.edu	37	7	1595015	1595015	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr7:1595015C>T	uc003skv.4	-	1	423	c.106G>A	c.(106-108)Gac>Aac	p.D36N	TMEM184A_uc021zyr.1_5'UTR	NM_001097620	NP_001091089	Q6ZMB5	T184A_HUMAN	Homo sapiens transmembrane protein 184A (TMEM184A), mRNA.	36						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		CCCATGTGGTCCATCTGCGGC	0.687000														38			50		0	0	0.000781405	0	0
MSANTD4	84437	broad.mit.edu	37	11	105880595	105880595	+	Silent	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr11:105880595G>A	uc001piy.3	-	2	878	c.705C>T	c.(703-705)atC>atT	p.I235I	MSANTD4_uc001piz.3_Silent_p.I235I	NM_032424	NP_115800	Q8NCY6	K1826_HUMAN	Homo sapiens KIAA1826 (KIAA1826), mRNA.	235						nucleus											TCTCTTTCTCGATTTGTAGGC	0.453000														67			36		0	0	0.000191422	0	0
NAALAD2	10003	broad.mit.edu	37	11	89891372	89891372	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr11:89891372C>T	uc001pdf.4	+	6	965	c.856C>T	c.(856-858)Ccc>Tcc	p.P286S	NAALAD2_uc009yvx.3_Missense_Mutation_p.P286S|NAALAD2_uc009yvy.3_Intron|NAALAD2_uc001pdd.2_Missense_Mutation_p.P286S|NAALAD2_uc001pde.3_Intron	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA.	286	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				ACCTGTACATCCCATTGGATA	0.299000														112			33		0	0	0.000814825	0	0
IDE	3416	broad.mit.edu	37	10	94267908	94267908	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr10:94267908A>T	uc001kia.3	-	7	1191	c.1115T>A	c.(1114-1116)tTt>tAt	p.F372Y		NM_004969	NP_004960	P14735	IDE_HUMAN	Homo sapiens insulin-degrading enzyme (IDE), transcript variant 1, mRNA.	372					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AATGATAAAAAACATAAAACC	0.353000														201			52		0	0	0.000781405	0	0
SOGA2	23255	broad.mit.edu	37	18	8826060	8826060	+	Silent	SNP	T	C	C			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr18:8826060T>C	uc002knr.2	+	14	4694	c.4552T>C	c.(4552-4554)Tta>Cta	p.L1518L	SOGA2_uc002knq.2_Silent_p.L1477L|SOGA2_uc002kns.2_Silent_p.L858L	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA.	1828																	GAAGCAGGACTTATCTGCTCC	0.602000														9			3		0	0	6.4e-05	0	0
FASTKD2	22868	broad.mit.edu	37	2	207652766	207652766	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr2:207652766G>C	uc002vbu.3	+	8	2110	c.1700G>C	c.(1699-1701)cGg>cCg	p.R567P	FASTKD2_uc002vbv.3_Missense_Mutation_p.R567P|FASTKD2_uc002vbx.3_Missense_Mutation_p.R567P|FASTKD2_uc002vbw.1_Missense_Mutation_p.R567P	NM_001136193	NP_055744	Q9NYY8	FAKD2_HUMAN	Homo sapiens FAST kinase domains 2 (FASTKD2), transcript variant 2, mRNA.	567					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		CAGCTGCCGCGGGAGCTGCCA	0.493000														53			4		0	0	0.000602214	0	0
BTNL8	79908	broad.mit.edu	37	5	180374511	180374511	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr5:180374511G>A	uc003mmp.3	+	4	908	c.674_splice	c.e4-1	p.D225_splice	BTNL8_uc003mmq.3_Splice_Site_p.D225_splice|BTNL8_uc010jll.3_Splice_Site_p.D225_splice|BTNL8_uc011dhg.2_Splice_Site_p.D100_splice|BTNL8_uc010jlm.3_Splice_Site_p.D109_splice|BTNL8_uc011dhh.2_Splice_Site_p.D41_splice	NM_001040462	NP_001153182	Q6UX41	BTNL8_HUMAN	Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA.	225						integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGTTTTTCAGATACCTTTTT	0.393000														168			26		0	0	0.000147802	0	0
AX747991	0	broad.mit.edu	37	19	12799935	12799935	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr19:12799935G>A	uc002mul.1	+	0	321	c.193G>A	c.(193-195)Ggg>Agg	p.G65R	FBXW9_uc010xmp.2_Non-coding_Transcript|FBXW9_uc002mum.1_3'UTR|FBXW9_uc010dyx.2_3'UTR					Homo sapiens cDNA FLJ35888 fis, clone TESTI2009136.																		TAGGCCCACGGGGCGGAGGCA	0.662000														5			8		0	0	0.000157383	0	0
MUC16	94025	broad.mit.edu	37	19	9085057	9085057	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr19:9085057G>A	uc002mkp.3	-	0	6962	c.6758C>T	c.(6757-6759)tCc>tTc	p.S2253F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2253	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S2253F(3)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGGGAGGGGGAAAAGGAGAC	0.458000														37			6		0	0	8.12818e-05	0	0
ALDH7A1	501	broad.mit.edu	37	5	125891679	125891679	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr5:125891679A>G	uc003ktx.3	-	11	1229	c.1037T>C	c.(1036-1038)gTt>gCt	p.V346A	ALDH7A1_uc003ktv.3_5'UTR|ALDH7A1_uc011cxa.2_Intron	NM_001201377	NP_001188306	P49419	AL7A1_HUMAN	Homo sapiens aldehyde dehydrogenase 7 family, member A1 (ALDH7A1), transcript variant 1, mRNA.	346					cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	L-aminoadipate-semialdehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity			endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	NADH(DB00157)|Pyridoxine(DB00165)	TCTGTTTACAACCTCATCATG	0.378000														38			5		0	0	3.59834e-05	0	0
IGSF22	283284	broad.mit.edu	37	11	18738353	18738353	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr11:18738353C>T	uc009yht.2	-	9	1358	c.1168G>A	c.(1168-1170)Gat>Aat	p.D390N	IGSF22_uc001mpa.2_Non-coding_Transcript	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA.	390										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						AGTCTGGCATCCTTAATCTTA	0.527000														78			50		0	0	0.000781405	0	0
KCNJ6	3763	broad.mit.edu	37	21	39087253	39087253	+	Silent	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr21:39087253G>A	uc011aej.1	-	2	260	c.207C>T	c.(205-207)aaC>aaT	p.N69N	KCNJ6_uc002ywo.2_Silent_p.N69N	NM_002240	NP_002231	P48051	IRK6_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA.	69					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	TCTCCCTCACGTTGCCGTGAT	0.478000														67			33		0	0	0.000814825	0	0
MYH1	4619	broad.mit.edu	37	17	10418201	10418201	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr17:10418201G>A	uc002gmo.3	-	5	611	c.517C>T	c.(517-519)Cag>Tag	p.Q173*	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	173	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						AAGATAGACTGATTCTCCCGA	0.323000														170			55		0	0	0.000781405	0	0
ZSWIM3	140831	broad.mit.edu	37	20	44506018	44506018	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr20:44506018C>T	uc002xqd.3	+	1	1066	c.821C>T	c.(820-822)tCc>tTc	p.S274F	ZSWIM3_uc010zxg.2_Missense_Mutation_p.S268F	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN	Homo sapiens zinc finger, SWIM-type containing 3 (ZSWIM3), transcript variant 1, mRNA.	274							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				GAGTTCAACTCCGATTGGCCC	0.532000														35			27		0	0	0.000878237	0	0
HIST1H1B	3009	broad.mit.edu	37	6	27834783	27834783	+	Silent	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr6:27834783C>T	uc003njx.3	-	0	577	c.525G>A	c.(523-525)aaG>aaA	p.K175K		NM_005322	NP_005313	P16401	H15_HUMAN	Homo sapiens histone cluster 1, H1b (HIST1H1B), mRNA.	175					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						CCTTGGCCTTCTTAGGGCTCT	0.592000														57			55		0	0	0.000781405	0	0
SH3TC1	54436	broad.mit.edu	37	4	8221096	8221096	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr4:8221096G>T	uc003gkv.4	+	8	1052	c.951G>T	c.(949-951)caG>caT	p.Q317H	SH3TC1_uc003gkw.4_Missense_Mutation_p.Q241H|SH3TC1_uc003gkx.4_Non-coding_Transcript	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	317	SH3.						binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CAGACTTCCAGGGCTCGGGGC	0.672000														130			12		1.15088e-07	1.47593e-06	0.000422831	1	0
EIF2C1	26523	broad.mit.edu	37	1	36384665	36384665	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr1:36384665C>T	uc001bzl.3	+	17	2488	c.2275C>T	c.(2275-2277)Cga>Tga	p.R759*	EIF2C1_uc001bzk.3_Nonsense_Mutation_p.R684*|EIF2C1_uc009vuy.3_Non-coding_Transcript	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 1 (EIF2C1), mRNA.	759	Piwi.				negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	RNA binding|protein binding			biliary_tract(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|prostate(1)|skin(6)|urinary_tract(1)	36		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGGCACCAGCCGACCATCCCA	0.527000														15			16		0	0	0.000132079	0	0
RP1L1	94137	broad.mit.edu	37	8	10469228	10469228	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr8:10469228C>T	uc003wtc.3	-	3	2609	c.2380G>A	c.(2380-2382)Gaa>Aaa	p.E794K		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	794					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTGGCCTCTTCCCCCAGGCTG	0.692000														56			26		0	0	0.000339439	0	0
NOSIP	51070	broad.mit.edu	37	19	50060402	50060403	+	Missense_Mutation	DNP	GA	AC	AC			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr19:50060402_50060403GA>AC	uc002pok.3	-	5	514_515	c.362_363TC>GT	c.(361-363)atc>aGT	p.I121S	NOSIP_uc002pol.3_Missense_Mutation_p.I121S|NOSIP_uc010yay.1_Non-coding_Transcript	NM_015953	NP_057037	Q9Y314	NOSIP_HUMAN	Homo sapiens nitric oxide synthase interacting protein (NOSIP), mRNA.	121					negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process	cytosol|nucleus	protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		GCCGGCTCACGATAGCCGACTC	0.688000														24			6		0	0	6.4e-05	0	0
C7	730	broad.mit.edu	37	5	40937743	40937743	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr5:40937743G>A	uc003jmh.3	+	5	632	c.518G>A	c.(517-519)gGa>gAa	p.G173E	C7_uc011cpn.1_Intron	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	173	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				AGTGGGGATGGAAAAGATTTC	0.393000														13			5		0	0	0.000602214	0	0
SRGAP3	9901	broad.mit.edu	37	3	9055492	9055492	+	Silent	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr3:9055492G>A	uc003brf.1	-	15	2524	c.1848C>T	c.(1846-1848)atC>atT	p.I616I	SRGAP3_uc003brg.1_Silent_p.I592I	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	616	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GGATTTGTTGGATCTGGTGCA	0.527000			T	RAF1	pilocytic astrocytoma									35			20		0	0	0.00047179	0	0
MED12L	116931	broad.mit.edu	37	3	150877703	150877703	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr3:150877703G>A	uc003eyp.3	+	6	1051	c.922G>A	c.(922-924)Gat>Aat	p.D308N	MED12L_uc011bnz.2_Intron|MED12L_uc003eyn.3_Missense_Mutation_p.D308N|MED12L_uc003eyo.3_Missense_Mutation_p.D308N	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	308					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCTGCTGAGCGATAGCCCCAA	0.577000														81			30		0	0	0.000279167	0	0
ARMC5	79798	broad.mit.edu	37	16	31471181	31471181	+	Silent	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr16:31471181C>T	uc010vfn.2	+	2	745	c.621C>T	c.(619-621)tcC>tcT	p.S207S	ARMC5_uc010vfo.2_Silent_p.S144S|ARMC5_uc002ecc.3_Silent_p.S112S|ARMC5_uc002eca.4_Silent_p.S112S|ARMC5_uc002ecb.2_Silent_p.S112S|ARMC5_uc010vfp.2_Silent_p.S112S	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	Homo sapiens armadillo repeat containing 5 (ARMC5), transcript variant 1, mRNA.	112							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						ccgcccccTCCGCTGTGTCGT	0.741000														5			6		0	0	3.59834e-05	0	0
CNTN6	27255	broad.mit.edu	37	3	1424655	1424655	+	Silent	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr3:1424655G>A	uc003boz.3	+	17	2463	c.2196G>A	c.(2194-2196)gaG>gaA	p.E732E	CNTN6_uc011asj.2_Silent_p.E660E|CNTN6_uc003bpa.3_Silent_p.E732E	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	732	Fibronectin type-III 2.				Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AGAATGGGGAGGGATTTGGAT	0.398000														52			8		0	0	0.000442599	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	155062	155062	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr5:155062G>C	uc003jak.2	+	5	1047	c.997G>C	c.(997-999)Ggc>Cgc	p.G333R		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	333					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AGACCTCGACGGCTCCTTTCC	0.562000														27			33		0	0	0.000409698	0	0
SERPINB11	89778	broad.mit.edu	37	18	61383349	61383349	+	Silent	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr18:61383349G>A	uc002ljk.4	+	5	606	c.435G>A	c.(433-435)agG>agA	p.R145R	SERPINB11_uc010xes.2_Intron|SERPINB11_uc010dqd.3_Silent_p.R32R|SERPINB11_uc002ljj.4_Silent_p.R32R|SERPINB11_uc010dqe.3_Intron|SERPINB11_uc010dqf.3_Intron	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) (SERPINB11), mRNA.	146					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				AAGAAACGAGGAAAACGATTA	0.358000														21			11		0	0	0.00010058	0	0
MAP2K7	5609	broad.mit.edu	37	19	7968862	7968862	+	Silent	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr19:7968862C>T	uc002mit.3	+	0	98	c.33C>T	c.(31-33)tcC>tcT	p.S11S	MAP2K7_uc002mis.1_Silent_p.S11S|MAP2K7_uc002miv.2_Silent_p.S11S|MAP2K7_uc010xka.1_Non-coding_Transcript|MAP2K7_uc010dvv.3_5'UTR|MAP2K7_uc010xkb.2_Silent_p.S11S	NM_145185	NP_660186	O14733	MP2K7_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 7 (MAP2K7), mRNA.	11					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)	AGAAGCTGTCCCGCCTGGAAG	0.697000														9			10		0	0	6.40141e-05	0	0
IQCH	64799	broad.mit.edu	37	15	67664977	67664977	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr15:67664977G>A	uc002aqo.2	+	8	1379	c.1282G>A	c.(1282-1284)Gag>Aag	p.E428K	IQCH_uc010ujv.2_Missense_Mutation_p.E247K|IQCH_uc002aqn.2_Missense_Mutation_p.E255K|IQCH_uc002aqp.2_Missense_Mutation_p.E180K|IQCH_uc002aqq.2_Missense_Mutation_p.E176K	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA.	428										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		GAGACACCTGGAGAATTTTCG	0.453000														92			19		0	0	0.000295444	0	0
DBC1	1620	broad.mit.edu	37	9	122075564	122075564	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr9:122075564G>T	uc004bkc.2	-	1	526	c.70C>A	c.(70-72)Cac>Aac	p.H24N	DBC1_uc004bkd.2_Missense_Mutation_p.H24N	NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	24					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GGTTCCTGGTGGGAGGGCTGC	0.512000														32			18		0.000175454	0.00218506	0.000175454	1	0
BTNL3	10917	broad.mit.edu	37	5	180424410	180424410	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr5:180424410G>A	uc003mmr.3	+	2	779	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K		NM_197975	NP_932079	Q6UXE8	BTNL3_HUMAN	Homo sapiens butyrophilin-like 3 (BTNL3), mRNA.	199	Ig-like V-type.				lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			TATAGTCCAGGAAAATGCTGG	0.488000														19			14		0	0	0.000151284	0	0
WDR72	256764	broad.mit.edu	37	15	53908382	53908382	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr15:53908382C>T	uc002acj.2	-	14	2063	c.2021G>A	c.(2020-2022)tGg>tAg	p.W674*	WDR72_uc010bfi.1_Nonsense_Mutation_p.W674*	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	674										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		AACGTTACTCCATTTTGTCTT	0.368000														26			14		0	0	0.000422831	0	0
DSCAM	1826	broad.mit.edu	37	21	41725649	41725649	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr21:41725649G>A	uc002yyq.1	-	4	1129	c.677C>T	c.(676-678)tCc>tTc	p.S226F	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	226	Ig-like C2-type 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.S226S(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ATCCAGTATGGATGGGGCTGA	0.512000														15			6		0	0	3.59834e-05	0	0
TBCK	93627	broad.mit.edu	37	4	107157662	107157662	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr4:107157662G>A	uc010ilv.2	-	13	1600	c.1235C>T	c.(1234-1236)cCt>cTt	p.P412L	TBCK_uc003hyb.2_Missense_Mutation_p.P155L|TBCK_uc003hye.2_Missense_Mutation_p.P373L|TBCK_uc003hyc.2_Missense_Mutation_p.P349L|TBCK_uc003hyd.2_Missense_Mutation_p.P240L|TBCK_uc003hyf.2_Missense_Mutation_p.P412L	NM_001163435	NP_001156908	Q8TEA7	TBCK_HUMAN	Homo sapiens TBC1 domain containing kinase (TBCK), transcript variant 1, mRNA.	412						intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						GTTTGAATGAGGTAAATTAGA	0.338000														39			36		0	0	0.000814825	0	0
FBXO46	23403	broad.mit.edu	37	19	46215078	46215078	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr19:46215078C>T	uc002pcz.3	-	1	1799	c.1676G>A	c.(1675-1677)gGa>gAa	p.G559E	FBXO46_uc002pcy.3_Missense_Mutation_p.G559E|FBXO46_uc021uvz.1_Missense_Mutation_p.G559E	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN	Homo sapiens F-box protein 46 (FBXO46), mRNA.	559							protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GTAGGAACGTCCGTAAGGCAG	0.642000														15			17		0	0	0.000132079	0	0
TXNDC2	84203	broad.mit.edu	37	18	9888079	9888079	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr18:9888079G>A	uc002koi.4	+	1	2052	c.1603G>A	c.(1603-1605)Gat>Aat	p.D535N	TXNDC2_uc002koh.4_Missense_Mutation_p.D468N|TXNDC2_uc021ugx.1_Missense_Mutation_p.D468N	NM_001098529	NP_115619	Q86VQ3	TXND2_HUMAN	Homo sapiens thioredoxin domain containing 2 (spermatozoa) (TXNDC2), transcript variant 2, mRNA.	535	Thioredoxin.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						AGAAAAGGTGGATGAACTTTG	0.428000														10			13		0	0	0.000151284	0	0
ZNF705B	100132396	broad.mit.edu	37	8	7806707	7806707	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr8:7806707G>A	uc010lro.1	+	3	351	c.69G>A	c.(67-69)atG>atA	p.M23I		NM_001193630	NP_001180559	P0CI00	Z705L_HUMAN	Homo sapiens zinc finger protein 705D-like (LOC100132396), mRNA.	23	KRAB.				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			kidney(2)|lung(2)	4						AGTGGGACATGATGGACACAT	0.418000														176			58		0	0	0.000781405	0	0
CDH17	1015	broad.mit.edu	37	8	95183181	95183182	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr8:95183181_95183182GG>AA	uc003ygh.2	-	7	940_941	c.815_816CC>TT	c.(814-816)tcc>tTT	p.S272F	CDH17_uc011lgo.1_Intron|CDH17_uc011lgp.1_Missense_Mutation_p.S272F	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	272	Cadherin 3.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TGTCAACTAAGGAATATTGTGC	0.450000														47			36		0	0	6.4e-05	0	0
GIF	2694	broad.mit.edu	37	11	59611398	59611398	+	Silent	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr11:59611398C>T	uc001noi.3	-	1	258	c.210G>A	c.(208-210)aaG>aaA	p.K70K	GIF_uc010rkz.1_Silent_p.K70K	NM_005142	NP_005133	P27352	IF_HUMAN	Homo sapiens gastric intrinsic factor (vitamin B synthesis) (GIF), mRNA.	70					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						GCTTCTGGGCCTTCAAGTTGT	0.522000														29			18		0	0	0.00074312	0	0
TNRC18	84629	broad.mit.edu	37	7	5348975	5348976	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr7:5348975_5348976GG>AA	uc003soi.4	-	27	8761_8762	c.8412_8413CC>TT	c.(8410-8415)gcccgc>gcTTgc	p.R2805C		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA.	2805							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		AAGAGCTTGCGGGCCTTGCCCT	0.668000														19			8		0	0	6.4e-05	0	0
GAL3ST3	89792	broad.mit.edu	37	11	65810581	65810581	+	Silent	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr11:65810581C>T	uc001ogv.3	-	1	853	c.693G>A	c.(691-693)gtG>gtA	p.V231V	GAL3ST3_uc001ogw.3_Silent_p.V231V	NM_033036	NP_149025	Q96A11	G3ST3_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 3 (GAL3ST3), mRNA.	231					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			kidney(1)|lung(9)|ovary(2)|skin(2)	14						AAACCTCCTCCACCTGGCGGA	0.662000														55			11		0	0	0.000219431	0	0
RNASE10	338879	broad.mit.edu	37	14	20979015	20979015	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr14:20979015G>A	uc001vxp.2	+	1	873	c.469G>A	c.(469-471)Gag>Aag	p.E157K	RNASE10_uc010tlj.2_Missense_Mutation_p.E129K	NM_001012975	NP_001012993	Q5GAN6	RNS10_HUMAN	Homo sapiens ribonuclease, RNase A family, 10 (non-active) (RNASE10), mRNA.	129						extracellular region	nucleic acid binding|pancreatic ribonuclease activity	p.E129*(1)		endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	12	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		CAAGATGAAGGAGCCCAGTCA	0.458000														13			11		0	0	0.00010058	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142482242	142482242	+	Missense_Mutation	SNP	G	A	A	rs143538588	by1000genomes	TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr7:142482242G>A	uc011ksq.2	+	4	705	c.622G>A	c.(622-624)Gga>Aga	p.G208R	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		GGTCTGCAATGGACAGCTTCA	0.493000														69			5		0	0	3.59834e-05	0	0
EEF2	1938	broad.mit.edu	37	19	3978042	3978042	+	Silent	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr19:3978042G>A	uc002lze.3	-	11	1925	c.1842C>T	c.(1840-1842)gcC>gcT	p.A614A		NM_001961	NP_001952	P13639	EF2_HUMAN	Homo sapiens eukaryotic translation elongation factor 2 (EEF2), mRNA.	614						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		CGATGTCCTCGGCCAGGCCGT	0.647000														10			4		0	0	0.00024832	0	0
MYH3	4621	broad.mit.edu	37	17	10537449	10537449	+	Silent	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr17:10537449C>T	uc002gmq.2	-	31	4495	c.4407G>A	c.(4405-4407)gaG>gaA	p.E1469E		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	1469					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TCAGGGATGCCTCCAGCTCTG	0.507000														109			32		0	0	0.000814825	0	0
CNKSR1	10256	broad.mit.edu	37	1	26510755	26510755	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr1:26510755C>T	uc001bln.4	+	10	1056	c.998C>T	c.(997-999)cCc>cTc	p.P333L	CNKSR1_uc010oex.1_Non-coding_Transcript|CNKSR1_uc001blm.4_Missense_Mutation_p.P326L|CNKSR1_uc009vsd.3_Missense_Mutation_p.P68L|CNKSR1_uc009vse.3_Missense_Mutation_p.P68L	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA.	333	Pro-rich.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		AACCCCAGTCCCGGACCCAGC	0.627000														92			20		0	0	0.000295444	0	0
WDR53	348793	broad.mit.edu	37	3	196288262	196288262	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr3:196288262C>T	uc003fwt.3	-	2	556	c.85G>A	c.(85-87)Gag>Aag	p.E29K		NM_182627	NP_872433	Q7Z5U6	WDR53_HUMAN	Homo sapiens WD repeat domain 53 (WDR53), mRNA.	29										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	13	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		TCTCCGCCCTCTGCTCCAGAA	0.542000														8			10		0	0	0.000673444	0	0
RNF126	55658	broad.mit.edu	37	19	651671	651671	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr19:651671C>T	uc010drs.3	-	3	495	c.383G>A	c.(382-384)cGc>cAc	p.R128H		NM_194460	NP_919442	Q9BV68	RN126_HUMAN	Homo sapiens ring finger protein 126 (RNF126), mRNA.	128							protein binding|zinc ion binding			lung(1)	1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGGCGGGCGCGGGGCTGTCG	0.781000														5			6		0	0	3.59834e-05	0	0
NOMO1	23420	broad.mit.edu	37	16	14968902	14968902	+	Silent	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr16:14968902C>T	uc002dcv.3	+	18	2130	c.2064C>T	c.(2062-2064)atC>atT	p.I688I	Mir_548_uc021tdj.1_5'Flank	NM_014287	NP_055102	Q15155	NOMO1_HUMAN	Homo sapiens NODAL modulator 1 (NOMO1), mRNA.	688						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						GGTCTTCCATCGACAGTGAAC	0.562000														80			29		0	0	0.000191422	0	0
PLXNB3	5365	broad.mit.edu	37	X	153043033	153043033	+	Silent	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chrX:153043033G>A	uc010nuk.2	+	31	5491	c.5220G>A	c.(5218-5220)gtG>gtA	p.V1740V	PLXNB3_uc004fii.2_Silent_p.V1717V|PLXNB3_uc011mzd.1_Silent_p.V1356V|SRPK3_uc004fik.3_5'UTR	NM_001163257	NP_001156729	Q9ULL4	PLXB3_HUMAN	Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA.	1717					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TTCTCAGCGTGAACCGGCCCA	0.612000														53			6		0	0	3.59834e-05	0	0
ZNF282	8427	broad.mit.edu	37	7	148895701	148895701	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr7:148895701G>A	uc003wfm.3	+	1	547	c.442G>A	c.(442-444)Gag>Aag	p.E148K	ZNF282_uc011kun.1_Missense_Mutation_p.E148K|ZNF282_uc003wfn.3_Missense_Mutation_p.E88K|ZNF282_uc003wfo.3_Missense_Mutation_p.E88K	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	Homo sapiens zinc finger protein 282 (ZNF282), mRNA.	148					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		GAACCACATGGAGAGCAAGTG	0.627000														44			52		0	0	0.000781405	0	0
DEFB119	245932	broad.mit.edu	37	20	29977001	29977001	+	Silent	SNP	A	G	G			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr20:29977001A>G	uc002wvu.1	-	1	214	c.94T>C	c.(94-96)Ttg>Ctg	p.L32L	DEFB119_uc002wvs.3_Intron|DEFB119_uc002wvt.3_Intron	NM_153323	NP_697018	Q8N690	DB119_HUMAN	Homo sapiens defensin, beta 119 (DEFB119), transcript variant 3, mRNA.	38					defense response to bacterium	extracellular region				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TCTTTGCACAACAACCGGCAG	0.443000														117			45		0	0	0.000781405	0	0
KRT20	54474	broad.mit.edu	37	17	39041305	39041306	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr17:39041305_39041306GG>AA	uc002hvl.3	-	0	190_191	c.132_133CC>TT	c.(130-135)atccgc>atTTgc	p.R45C		NM_019010	NP_061883	P35900	K1C20_HUMAN	Homo sapiens keratin 20 (KRT20), mRNA.	45	Head.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				TTGGAGATGCGGATGCCCCGGC	0.599000														63			14		0	0	6.4e-05	0	0
SLC27A6	28965	broad.mit.edu	37	5	128302185	128302185	+	Missense_Mutation	SNP	G	A	A	rs142676290	byFrequency	TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr5:128302185G>A	uc003kuy.3	+	1	751	c.355G>A	c.(355-357)Gtt>Att	p.V119I	SLC27A6_uc003kuz.3_Missense_Mutation_p.V119I	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	119					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GCCGGACTTCGTTCACGTGTG	0.572000														12			12		0	0	0.000219431	0	0
FAM123B	139285	broad.mit.edu	37	X	63411447	63411447	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chrX:63411447G>A	uc022byb.1	-	0	1720	c.1720C>T	c.(1720-1722)Cgg>Tgg	p.R574W	FAM123B_uc004dvo.3_Missense_Mutation_p.R574W	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	Homo sapiens family with sequence similarity 123B (FAM123B), mRNA.	574					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(67)		NS(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(132)|large_intestine(35)|liver(1)|lung(33)|ovary(5)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	225						TGCTCCCGCCGAAGCTCCCAA	0.592000														26			30		0	0	0.00058488	0	0
CELSR2	1952	broad.mit.edu	37	1	109806907	109806907	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr1:109806907C>G	uc001dxa.4	+	9	5270	c.5209C>G	c.(5209-5211)Ctg>Gtg	p.L1737V		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	1737	Laminin G-like 2.				Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GCTGCATGGTCTGCACCTGAG	0.667000											OREG0013632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		208			177		0	0	0.000781405	0	0
UGT2B10	7365	broad.mit.edu	37	4	69681886	69681886	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr4:69681886A>C	uc003hee.3	+	0	174	c.149A>C	c.(148-150)cAt>cCt	p.H50P	UGT2B10_uc011cam.2_Missense_Mutation_p.H50P	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	50					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						CAGAGAGGTCATGAGGTGACT	0.418000														117			92		0	0	0.000781405	0	0
TANC1	85461	broad.mit.edu	37	2	160007007	160007007	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr2:160007007C>T	uc002uag.3	+	6	896	c.622C>T	c.(622-624)Ccc>Tcc	p.P208S	TANC1_uc010fol.1_Intron|TANC1_uc010zcm.2_Missense_Mutation_p.P207S|TANC1_uc010fom.1_Intron|TANC1_uc002uah.1_3'UTR	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.	208	Ser-rich.					cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CAACAAAAGTCCCTGTGAGAC	0.507000														34			22		0	0	0.00047179	0	0
CCDC158	339965	broad.mit.edu	37	4	77300459	77300459	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr4:77300459C>T	uc003hkb.4	-	7	1166	c.1013G>A	c.(1012-1014)aGg>aAg	p.R338K	CCDC158_uc003hkd.3_Missense_Mutation_p.R338K	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	338								p.R338R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TTCATACATCCTTTTGGCTTC	0.353000														67			53		0	0	0.000781405	0	0
VAV3	10451	broad.mit.edu	37	1	108507542	108507544	+	Splice_Site	DEL	GCC	-	-	rs71796067		TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr1:108507542_108507544delGCC	uc001dvk.1	-	1	1	c.-53_splice	c.e1-1		VAV3_uc010ouw.1_Splice_Site|VAV3_uc001dvl.1_5'Flank|VAV3_uc010oux.1_Splice_Site	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	Homo sapiens vav 3 guanine nucleotide exchange factor (VAV3), transcript variant 1, mRNA.						B cell receptor signaling pathway|angiogenesis|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CAAGGATGCGgccgccgccgccg	0.773													---	3	---	---	3	---					
QRICH1	54870	broad.mit.edu	37	3	49114419	49114426	+	Frame_Shift_Del	DEL	AAGGAGAT	-	-			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr3:49114419_49114426delAAGGAGAT	uc010hkq.3	-	2	321_328	c.25_32delATCTCCTT	c.(25-33)atctcctttfs	p.I9fs	QRICH1_uc003cvu.3_Frame_Shift_Del_p.I9fs|QRICH1_uc003cvv.3_Frame_Shift_Del_p.I9fs	NM_198880	NP_942581	Q2TAL8	QRIC1_HUMAN	Homo sapiens glutamine-rich 1 (QRICH1), transcript variant 2, mRNA.	9	CARD.									breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GTACTCTTCAAAGGAGATGGTGTTCTCT	0.452													---	103	---	---	10	---					
MLL5	55904	broad.mit.edu	37	7	104715133	104715133	+	Frame_Shift_Del	DEL	G	-	-			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr7:104715133delG	uc003vcm.3	+	7	1134	c.600delG	c.(598-600)gtgfs	p.V200fs	MLL5_uc010lja.1_Frame_Shift_Del_p.V54fs|MLL5_uc010ljb.1_Frame_Shift_Del_p.V200fs|MLL5_uc003vcl.3_Frame_Shift_Del_p.V200fs|MLL5_uc010ljc.3_Frame_Shift_Del_p.V200fs|MLL5_uc003vco.1_Non-coding_Transcript|MLL5_uc010ljd.1_5'Flank	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) (MLL5), transcript variant 1, mRNA.	200					DNA methylation|cell cycle arrest|cellular response to retinoic acid|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(13)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	63						AGGTTCCTGTGGAATTATATA	0.328													---	171	---	---	44	---					
CLEC4A	50856	broad.mit.edu	37	12	8281937	8281937	+	Frame_Shift_Del	DEL	A	-	-			TCGA-FS-A1ZM-06A-12D-A197-08	TCGA-FS-A1ZM-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d1db56b-5464-45e7-8bca-0cb4655fbfc4	1245a11a-f1d1-448a-a29a-7a2d6e6efacb	g.chr12:8281937delA	uc001qtz.1	+	2	524	c.277delA	c.(277-279)aaafs	p.K93fs	CLEC4A_uc009zga.1_Frame_Shift_Del_p.K54fs|CLEC4A_uc001qub.1_Intron|CLEC4A_uc001quc.1_Intron|CLEC4A_uc009zgb.1_Intron	NM_016184	NP_057268	Q9UMR7	CLC4A_HUMAN	Homo sapiens C-type lectin domain family 4, member A (CLEC4A), transcript variant 1, mRNA.	93					cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		GGAGTGTGTGAAAAAAAATAT	0.333													---	219	---	---	8	---					
