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
PRAMEF11	440560	broad.mit.edu	37	1	12885059	12885059	+	Missense_Mutation	SNP	C	C	G	rs143004725	by1000genomes	TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr1:12885059C>G	uc001auk.2	-	3	1248	c.1052G>C	c.(1051-1053)tGc>tCc	p.C351S		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	351								p.C351S(2)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGTGGCCATGCAGATGGGATT	0.532												
SEPN1	57190	broad.mit.edu	37	1	26140414	26140414	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr1:26140414C>A	uc021ojk.1	+	10	1485	c.1430C>A	c.(1429-1431)cCc>cAc	p.P477H	SEPN1_uc021ojl.1_Missense_Mutation_p.P443H	NM_020451	NP_065184	Q9NZV5	SELN_HUMAN	Homo sapiens selenoprotein N, 1 (SEPN1), transcript variant 1, mRNA.	477						endoplasmic reticulum membrane|extracellular region	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		GAAAGTTCGCCCATCCTCACC	0.612												
NTNG1	22854	broad.mit.edu	37	1	107867040	107867040	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr1:107867040A>G	uc001dvh.4	+	2	1101	c.383A>G	c.(382-384)aAg>aGg	p.K128R	NTNG1_uc001dvc.4_Missense_Mutation_p.K128R|NTNG1_uc010out.2_Missense_Mutation_p.K128R|NTNG1_uc001dvf.4_Missense_Mutation_p.K128R|NTNG1_uc001dvd.1_Missense_Mutation_p.K128R	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	Homo sapiens netrin G1 (NTNG1), transcript variant 1, mRNA.	128	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		GAGTATCCCAAGCCTCTCCAG	0.478												
AKNAD1	254268	broad.mit.edu	37	1	109395162	109395162	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr1:109395162T>C	uc001dwa.3	-	1	394	c.125A>G	c.(124-126)gAa>gGa	p.E42G	AKNAD1_uc010ovb.2_Intron|AKNAD1_uc001dwb.3_Non-coding_Transcript	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA.	42										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						ATTTAAGACTTCAAGGCCATC	0.408												
IFI16	3428	broad.mit.edu	37	1	159015232	159015232	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr1:159015232C>A	uc001ftg.3	+						IFI16_uc010pis.2_Missense_Mutation_p.P436Q|IFI16_uc010pit.2_Missense_Mutation_p.P492Q	NM_005531	NP_005522	Q16666	IF16_HUMAN	Homo sapiens interferon, gamma-inducible protein 16 (IFI16), transcript variant 2, mRNA.						cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					CCATCAACACCAAGCAGCAGT	0.488												
IGSF9	57549	broad.mit.edu	37	1	159897140	159897140	+	Silent	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr1:159897140G>A	uc001fur.2	-	20	3733	c.3535C>T	c.(3535-3537)Ctg>Ttg	p.L1179L	IGSF9_uc001fuq.2_Silent_p.L1163L|TAGLN2_uc001fun.1_5'Flank|TAGLN2_uc010piy.1_5'Flank|IGSF9_uc001fup.2_Silent_p.L325L	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA.	1179						cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GATGTTCACAGCAGAGTGGCC	0.607												
FMO3	2328	broad.mit.edu	37	1	171077238	171077238	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr1:171077238G>A	uc001ghi.3	+	4	614	c.503G>A	c.(502-504)gGc>gAc	p.G168D	FMO3_uc001ghh.3_Missense_Mutation_p.G168D|FMO3_uc010pmb.2_Missense_Mutation_p.G148D|FMO3_uc010pmc.2_Missense_Mutation_p.G105D	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	168					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CACTTTAAAGGCAAATGCTTC	0.423												
OR14A16	284532	broad.mit.edu	37	1	247978223	247978223	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr1:247978223A>G	uc001idm.1	-	0	809	c.809T>C	c.(808-810)gTa>gCa	p.V270A		NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily A, member 16 (OR14A16), mRNA.	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						CACAGAAATTACAGCATCCAA	0.413												
ANKRD26	22852	broad.mit.edu	37	10	27324683	27324683	+	Splice_Site	SNP	T	T	C			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr10:27324683T>C	uc009xku.1	-	24	2870	c.2698_splice	c.e24-1	p.N900_splice	ANKRD26_uc001itg.2_Splice_Site_p.N586_splice|ANKRD26_uc001ith.2_Splice_Site_p.N899_splice	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	Homo sapiens ankyrin repeat domain 26 (ANKRD26), transcript variant 1, mRNA.	899						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						ATGAGAATTCTAAGTAAAACA	0.313												
TLL2	7093	broad.mit.edu	37	10	98173027	98173027	+	Missense_Mutation	SNP	C	C	T	rs61743696		TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr10:98173027C>T	uc001kml.2	-	7	1211	c.970G>A	c.(970-972)Gtc>Atc	p.V324I	TLL2_uc009xvf.2_Missense_Mutation_p.V272I	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	324	Metalloprotease (By similarity).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.G323G(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GTTGGCCTGACGCCATTGTCA	0.522												
LOC729020	729020	broad.mit.edu	37	10	105005929	105005929	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr10:105005929A>G	uc009xxi.2	+	0	286	c.176A>G	c.(175-177)aAg>aGg	p.K59R	BC040734_uc001kwr.3_Intron	NM_001143909	NP_001137381	Q2QD12	Q2QD12_HUMAN	Homo sapiens rcRPE (LOC729020), mRNA.	59					carbohydrate metabolic process		ribulose-phosphate 3-epimerase activity										AGCCTTCGAAAGCAGCTAGGC	0.498												
INS-IGF2	3630	broad.mit.edu	37	11	2181187	2181187	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr11:2181187G>C	uc021qcd.1	-	1	466	c.228C>G	c.(226-228)agC>agG	p.S76R	IGF2_uc001lvi.3_Intron|INS-IGF2_uc001lvm.3_Intron|INS-IGF2_uc001lvo.1_Missense_Mutation_p.S76R|INS-IGF2_uc001lvn.2_Missense_Mutation_p.S76R|INS-IGF2_uc009ydg.1_Missense_Mutation_p.S64R	NM_001185098	NP_001172027	Q1WM24	Q1WM24_HUMAN	Homo sapiens insulin (INS), transcript variant 3, mRNA.	0					glucose metabolic process	extracellular region	hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)		AGGGCTGCAGGCTGCCTGCAC	0.662												
CCKBR	887	broad.mit.edu	37	11	6291993	6291993	+	Silent	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr11:6291993C>T	uc001mcp.3	+	3	1026	c.771C>T	c.(769-771)agC>agT	p.S257S	CCKBR_uc001mcq.3_Silent_p.S185S|CCKBR_uc001mcr.3_Silent_p.S257S|CCKBR_uc001mcs.3_Silent_p.S257S|CCKBR_uc001mct.1_5'Flank	NM_176875	NP_795344	P32239	GASR_HUMAN	Homo sapiens cholecystokinin B receptor (CCKBR), mRNA.	257					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	p.D256N(1)		NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	ACAGTGACAGCGACAGCCAAA	0.622												
RAG1	5896	broad.mit.edu	37	11	36595309	36595309	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr11:36595309C>T	uc021qgb.1	+	0	455	c.455C>T	c.(454-456)cCg>cTg	p.P152L	RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Missense_Mutation_p.P152L	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	152	Interaction with importin alpha-1.				histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				ACTTCCTGGCCGGACCTCATT	0.507									Familial Hemophagocytic Lymphohistiocytosis			
ACCSL	390110	broad.mit.edu	37	11	44077630	44077630	+	Frame_Shift_Del	DEL	A	A	-			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr11:44077630delA	uc001mxw.1	+	9	1236	c.1180delA	c.(1180-1182)agtfs	p.S394fs	ACCSL_uc009ykr.2_Frame_Shift_Del_p.S213fs	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN	Homo sapiens 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like (ACCSL), mRNA.	394							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	p.T393S(1)		central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						CTGGGGTACCAGTAAGGTGAG	0.443												
CREB3L1	90993	broad.mit.edu	37	11	46341859	46341859	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr11:46341859T>C	uc021qil.1	+	10	1738	c.1303T>C	c.(1303-1305)Tgg>Cgg	p.W435R	CREB3L1_uc021qik.1_Missense_Mutation_p.W435R|CREB3L1_uc001ncg.3_Missense_Mutation_p.W69R	NM_052854	NP_443086	Q96BA8	CR3L1_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 1 (CREB3L1), mRNA.	435					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		GGCAGGCTTATGGGAAGATGG	0.652			T	FUS	myxofibrosarcoma							
OR5A1	219982	broad.mit.edu	37	11	59211096	59211096	+	Missense_Mutation	SNP	A	A	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr11:59211096A>T	uc001nnx.1	+	0	455	c.455A>T	c.(454-456)tAt>tTt	p.Y152F		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA.	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A151S(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						GTTGGGGCATATGTTGGTGGC	0.547												
CABP4	57010	broad.mit.edu	37	11	67225877	67225877	+	Silent	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr11:67225877G>A	uc001olo.3	+	4	764	c.687G>A	c.(685-687)gcG>gcA	p.A229A	CABP4_uc001oln.3_Silent_p.A124A	NM_145200	NP_660201	P57796	CABP4_HUMAN	Homo sapiens calcium binding protein 4 (CABP4), mRNA.	229	EF-hand 3.				visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			TTACGGTGGCGGAGCTGCGGG	0.652												
APOBEC1	339	broad.mit.edu	37	12	7803627	7803627	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr12:7803627T>C	uc001qtb.3	-	3	587	c.553A>G	c.(553-555)Ata>Gta	p.I185V	APOBEC1_uc001qtc.3_Missense_Mutation_p.I140V	NM_001644	NP_001635	P41238	ABEC1_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 (APOBEC1), mRNA.	185	Leu-rich.				cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						ACTAGAATTATGCAGTGCAGC	0.433												
PRB1	5542	broad.mit.edu	37	12	11506566	11506566	+	Silent	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr12:11506566C>T	uc001qzw.1	-	3	505	c.468G>A	c.(466-468)aaG>aaA	p.K156K	PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	157	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GTCCTTGTGGCTTTCCTGGAG	0.597												
KRT75	9119	broad.mit.edu	37	12	52828035	52828035	+	Silent	SNP	G	G	A	rs140932366		TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr12:52828035G>A	uc001saj.2	-	0	76	c.54C>T	c.(52-54)agC>agT	p.S18S		NM_004693	NP_004684	O95678	K2C75_HUMAN	Homo sapiens keratin 75 (KRT75), mRNA.	18	Head.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		CCGAGGTGGTGCTGAAGCCCC	0.672												
OR6C68	403284	broad.mit.edu	37	12	55886262	55886262	+	Missense_Mutation	SNP	T	T	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr12:55886262T>A	uc010spo.2	+	0	116	c.116T>A	c.(115-117)aTg>aAg	p.M39K		NM_001005519	NP_001005519	A6NDL8	O6C68_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 68 (OR6C68), mRNA.	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						ATCACCTACATGTTGAGTGTA	0.398												
FAM19A2	338811	broad.mit.edu	37	12	62148677	62148677	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr12:62148677G>A	uc001sqw.3	-	2	1817	c.235C>T	c.(235-237)Cga>Tga	p.R79*	FAM19A2_uc001sqv.3_Non-coding_Transcript|FAM19A2_uc001sqx.3_Nonsense_Mutation_p.R79*|FAM19A2_uc001sqy.3_Non-coding_Transcript	NM_178539	NP_848634	Q8N3H0	F19A2_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A2 (FAM19A2), mRNA.	79						cytoplasm				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		GGAGCAGCTCGCGTGGTGCCT	0.502												
GRIP1	23426	broad.mit.edu	37	12	66800092	66800092	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr12:66800092A>G	uc001stk.3	-	14	2040	c.1799T>C	c.(1798-1800)cTc>cCc	p.L600P	GRIP1_uc010sta.1_Missense_Mutation_p.L544P|GRIP1_uc001stj.3_Missense_Mutation_p.L382P|GRIP1_uc001stm.3_Missense_Mutation_p.L600P|GRIP1_uc001stl.1_Missense_Mutation_p.L492P	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.	652	PDZ 5.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GCGGATTTTGAGCTTCACCAG	0.413												
MED13L	23389	broad.mit.edu	37	12	116446291	116446291	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr12:116446291C>G	uc001tvw.3	-	9	1982	c.1927G>C	c.(1927-1929)Gat>Cat	p.D643H		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	Homo sapiens mediator complex subunit 13-like (MED13L), mRNA.	643					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		AACTCAGCATCATCACTGGGT	0.517												
MPHOSPH9	10198	broad.mit.edu	37	12	123687854	123687854	+	Silent	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr12:123687854G>A	uc001uel.3	-	4	915	c.807C>T	c.(805-807)aaC>aaT	p.N269N	MPHOSPH9_uc010tal.2_5'UTR|MPHOSPH9_uc010tam.2_Intron|MPHOSPH9_uc001uem.3_5'UTR	NM_022782	NP_073619	Q99550	MPP9_HUMAN	Homo sapiens M-phase phosphoprotein 9 (MPHOSPH9), mRNA.	269					M phase of mitotic cell cycle	centriole|Golgi membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		GTAACTGCTTGTTTTCCCTTT	0.373												
TGM1	7051	broad.mit.edu	37	14	24730965	24730965	+	Silent	SNP	A	A	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr14:24730965A>G	uc001wod.3	-	2	568	c.444T>C	c.(442-444)caT>caC	p.H148H	TGM1_uc010tog.2_Intron|TGM1_uc021rrn.1_5'Flank	NM_000359	NP_000350	P22735	TGM1_HUMAN	Homo sapiens transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) (TGM1), mRNA.	148					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	GGAGGAGCATATGGAAAGGCT	0.592												
SRP54	6729	broad.mit.edu	37	14	35465958	35465958	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr14:35465958C>T	uc001wso.3	+	1	394	c.43C>T	c.(43-45)Cgc>Tgc	p.R15C	SRP54_uc010tpp.2_5'UTR|SRP54_uc010tpq.2_Intron	NM_003136	NP_003127	P61011	SRP54_HUMAN	Homo sapiens signal recognition particle 54kDa (SRP54), transcript variant 1, mRNA.	15	G-domain.				GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		ATCAGCATTACGCTCGTTGAG	0.343												
C14orf37	145407	broad.mit.edu	37	14	58471770	58471770	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr14:58471770C>G	uc010tro.2	-	7	2564	c.2366G>C	c.(2365-2367)aGa>aCa	p.R789T	C14orf37_uc001xdc.3_Missense_Mutation_p.R751T|C14orf37_uc001xdd.3_Missense_Mutation_p.R751T	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN	Homo sapiens chromosome 14 open reading frame 37 (C14orf37), mRNA.	751						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						CCATACCTTTCTTTTATGCCT	0.413												
GABRB3	2562	broad.mit.edu	37	15	26825568	26825568	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr15:26825568G>A	uc001zbb.3	-	6	851	c.748C>T	c.(748-750)Cga>Tga	p.R250*	GABRB3_uc021sgg.1_Nonsense_Mutation_p.R123*|GABRB3_uc021sgh.1_Nonsense_Mutation_p.R109*|GABRB3_uc001zaz.3_Nonsense_Mutation_p.R194*|GABRB3_uc001zba.3_Nonsense_Mutation_p.R194*	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	194					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TCCCCGCCTCGCCAGTAAAAC	0.517												
PCSK6	5046	broad.mit.edu	37	15	101924538	101924538	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr15:101924538G>A	uc002bxa.2	-	10	1714	c.1400C>T	c.(1399-1401)gCg>gTg	p.A467V	PCSK6_uc010bpd.3_Intron|PCSK6_uc002bwy.3_Missense_Mutation_p.A467V|PCSK6_uc010bpe.3_Missense_Mutation_p.A464V|PCSK6_uc002bxb.2_Missense_Mutation_p.A467V|PCSK6_uc002bxc.1_Missense_Mutation_p.A467V|PCSK6_uc002bxd.1_Missense_Mutation_p.A467V|PCSK6_uc002bxe.3_Missense_Mutation_p.A467V|PCSK6_uc002bxg.1_Missense_Mutation_p.A467V	NM_138320	NP_612193	P29122	PCSK6_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.	468					glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTTATGACCCGCGCCGTTCAC	0.567												
GLYR1	84656	broad.mit.edu	37	16	4863830	4863830	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr16:4863830C>T	uc002cxx.4	-	11	1064	c.1027G>A	c.(1027-1029)Ggc>Agc	p.G343S	GLYR1_uc002cxy.3_Non-coding_Transcript|GLYR1_uc002cxz.1_Missense_Mutation_p.G257S|GLYR1_uc002cya.2_Missense_Mutation_p.G337S|GLYR1_uc010uxv.1_Missense_Mutation_p.G262S	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN	Homo sapiens glyoxylate reductase 1 homolog (Arabidopsis) (GLYR1), mRNA.	343					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						CCACTGGGGCCCAGCACCAGC	0.612												
ATF7IP2	80063	broad.mit.edu	37	16	10524533	10524533	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr16:10524533C>T	uc002czw.3	+	1	215	c.56C>T	c.(55-57)cCc>cTc	p.P19L	ATF7IP2_uc010uyp.2_Intron|ATF7IP2_uc002czu.3_Missense_Mutation_p.P19L|ATF7IP2_uc002czv.3_Missense_Mutation_p.P19L|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc010uyq.2_Non-coding_Transcript	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA.	19					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						AAGACAATGCCCCTAAGTTGC	0.383												
UMOD	7369	broad.mit.edu	37	16	20359594	20359594	+	Silent	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr16:20359594C>T	uc002dhb.3	-	4	1152	c.1023G>A	c.(1021-1023)tcG>tcA	p.S341S	UMOD_uc002dgz.3_Silent_p.S308S|UMOD_uc002dha.3_Silent_p.S308S	NM_003361	NP_003352	P07911	UROM_HUMAN	Homo sapiens uromodulin (UMOD), transcript variant 1, mRNA.	308	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TGCCATTATTCGATTTGCAGT	0.552												
SLC7A5P1	81893	broad.mit.edu	37	16	29624638	29624638	+	Silent	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr16:29624638G>A	uc002dtl.1	-	0	401	c.324C>T	c.(322-324)acC>acT	p.T108T	LOC440354_uc002dsp.3_Non-coding_Transcript|BOLA2_uc010bzb.1_Intron					Homo sapiens solute carrier family 7 (amino acid transporter light chain, L system), member 5 pseudogene 1 (SLC7A5P1), non-coding RNA.																		TGGAGATGGTGGTGCCCAGCT	0.672												
ITGAX	3687	broad.mit.edu	37	16	31373991	31373991	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr16:31373991C>T	uc002ebt.3	+	11	1343	c.1276C>T	c.(1276-1278)Cgc>Tgc	p.R426C	ITGAX_uc002ebu.1_Missense_Mutation_p.R426C|ITGAX_uc010vfk.1_Missense_Mutation_p.R76C	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	426					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	p.R426fs*20(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GGGGGCCCCCCGCTACCAGCA	0.657												
MYO15A	51168	broad.mit.edu	37	17	18055238	18055238	+	Silent	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr17:18055238C>T	uc021trm.1	+	39	8085	c.7866C>T	c.(7864-7866)acC>acT	p.T2622T	MYO15A_uc021trl.1_Silent_p.T2620T|MYO15A_uc010vxi.2_5'Flank|MYO15A_uc010vxj.1_5'Flank|MYO15A_uc010vxk.1_5'Flank	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	2622	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGCAGATGACCCACCTGGCAG	0.602												
LLGL1	3996	broad.mit.edu	37	17	18138556	18138556	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr17:18138556C>G	uc002gsp.3	+	9	1275	c.1214C>G	c.(1213-1215)cCc>cGc	p.P405R		NM_004140	NP_004131	Q15334	L2GL1_HUMAN	Homo sapiens lethal giant larvae homolog 1 (Drosophila) (LLGL1), mRNA.	405					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GCCAGTGTCCCCGCCAAGCTG	0.672												
KCNJ18	3768	broad.mit.edu	37	17	21319068	21319068	+	Silent	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr17:21319068C>T	uc021tss.1	+	2	784	c.414C>T	c.(412-414)atC>atT	p.I138I	KCNJ18_uc002gyv.1_Silent_p.I138I|KCNJ18_uc021tst.1_Silent_p.I138I	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.	138						integral to membrane	inward rectifier potassium channel activity										TCTTCTCCATCGAGACGCAGA	0.672												
ASIC2	40	broad.mit.edu	37	17	31352958	31352958	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr17:31352958G>A	uc002hht.3	-	4	2054	c.1181C>T	c.(1180-1182)gCa>gTa	p.A394V	ASIC2_uc002hhu.3_Missense_Mutation_p.A343V	NM_183377	NP_899233	Q16515	ACCN1_HUMAN	Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG2, mRNA.	343					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	GGCAGGCTCTGCACACTCCTT	0.532												
GAS2L2	246176	broad.mit.edu	37	17	34074081	34074081	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr17:34074081G>A	uc002hjv.2	-	4	1067	c.1039C>T	c.(1039-1041)Cgg>Tgg	p.R347W		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	347					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCTGCTCCCCGTTCCCTGCGG	0.612												
TAF15	8148	broad.mit.edu	37	17	34151174	34151174	+	Missense_Mutation	SNP	G	G	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr17:34151174G>T	uc002hkd.3	+	6	663	c.577G>T	c.(577-579)Gat>Tat	p.D193Y	TAF15_uc010ctw.1_Non-coding_Transcript|TAF15_uc002hkc.3_Missense_Mutation_p.D190Y	NM_139215	NP_631961	Q92804	RBP56_HUMAN	Homo sapiens TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa (TAF15), transcript variant 1, mRNA.	193	Gln/Gly/Ser/Tyr-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		ATATGACAAGGATGGAAGAGG	0.428			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""							
KCNH6	81033	broad.mit.edu	37	17	61607575	61607575	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr17:61607575T>C	uc002jay.3	+	2	511	c.431T>C	c.(430-432)tTg>tCg	p.L144S	KCNH6_uc002jax.1_Missense_Mutation_p.L144S|KCNH6_uc010wpl.2_Missense_Mutation_p.L21S|KCNH6_uc010wpm.2_Missense_Mutation_p.L144S|KCNH6_uc002jaz.1_Missense_Mutation_p.L144S	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	144	PAC.				regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	AGCCGCAGCTTGTCCCAGCGC	0.642												
THOC1	9984	broad.mit.edu	37	18	247872	247874	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr18:247872_247874delTCT	uc002kkj.4	-	9	801_803	c.761_763delAGA	c.(760-765)aagatt>att	p.K254del	THOC1_uc002kkl.2_In_Frame_Del_p.K254del	NM_005131	NP_005122	Q96FV9	THOC1_HUMAN	Homo sapiens THO complex 1 (THOC1), mRNA.	254					apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding	p.E253K(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TTCCATGAAATCTTCTCATAGCA	0.350												
TRAPPC8	22878	broad.mit.edu	37	18	29496353	29496353	+	Frame_Shift_Del	DEL	A	A	-			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr18:29496353delA	uc002kxc.4	-	3	863	c.499delT	c.(499-501)tcafs	p.S167fs	TRAPPC8_uc002kxb.4_Frame_Shift_Del_p.S113fs|TRAPPC8_uc002kxd.4_Non-coding_Transcript|TRAPPC8_uc021uio.1_Frame_Shift_Del_p.S167fs|TRAPPC8_uc002kxe.2_Frame_Shift_Del_p.S167fs	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN	Homo sapiens trafficking protein particle complex 8 (TRAPPC8), mRNA.	167					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGTTCTTGTGACAACTTTGAA	0.348												
PSTPIP2	9050	broad.mit.edu	37	18	43572096	43572096	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr18:43572096G>A	uc002lbp.4	-	10	910	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	PSTPIP2_uc002lbq.4_Intron|RN7SK_uc021ujh.1_5'Flank	NM_024430	NP_077748	Q9H939	PPIP2_HUMAN	Homo sapiens proline-serine-threonine phosphatase interacting protein 2 (PSTPIP2), mRNA.	272						membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						CCAGTTTTGCGTTGATTCACA	0.388												
DENND1C	79958	broad.mit.edu	37	19	6477231	6477231	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr19:6477231G>C	uc002mfe.3	-	7	603	c.511C>G	c.(511-513)Ccg>Gcg	p.P171A	DENND1C_uc002mfb.3_5'Flank|DENND1C_uc002mfc.3_5'Flank|DENND1C_uc002mfd.3_5'UTR|DENND1C_uc010xje.2_Missense_Mutation_p.P127A	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	Homo sapiens DENN/MADD domain containing 1C (DENND1C), mRNA.	171	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						CCGCTCACCGGCTTGCTATTC	0.667												
MUC16	94025	broad.mit.edu	37	19	8997532	8997532	+	Silent	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr19:8997532G>A	uc002mkp.3	-	58	41094	c.40890C>T	c.(40888-40890)gcC>gcT	p.A13630A	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.A447A|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13632				Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAGAGGGCTGGCAGCTGTCG	0.468												
FBXL12	54850	broad.mit.edu	37	19	9922084	9922084	+	Missense_Mutation	SNP	C	C	T	rs61753275		TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr19:9922084C>T	uc002mme.3	-	2	711	c.469G>A	c.(469-471)Gtg>Atg	p.V157M	FBXL12_uc002mmd.3_Missense_Mutation_p.V104M|FBXL12_uc002mmf.3_Missense_Mutation_p.V104M|FBXL12_uc002mmg.3_Missense_Mutation_p.V104M	NM_017703	NP_060173	Q9NXK8	FXL12_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 12 (FBXL12), mRNA.	157							protein binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						CGGTCCAGCACGATGCATTCA	0.667												
ZNF844	284391	broad.mit.edu	37	19	12187275	12187275	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr19:12187275G>C	uc002mtb.2	+	3	1483	c.1340G>C	c.(1339-1341)cGt>cCt	p.R447P	ZNF844_uc010dym.1_Missense_Mutation_p.R290P	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN	Homo sapiens zinc finger protein 844 (ZNF844), mRNA.	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R447P(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GAGAGAAACCGTATGAGTGTA	0.433												
B3GNT3	10331	broad.mit.edu	37	19	17919127	17919127	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr19:17919127G>A	uc002nhl.1	+	1	658	c.511G>A	c.(511-513)Gga>Aga	p.G171R	B3GNT3_uc010ebd.1_Missense_Mutation_p.G171R|B3GNT3_uc010ebe.1_Missense_Mutation_p.G171R	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 (B3GNT3), mRNA.	171					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						ACAGACTCACGGAGACATCCT	0.637												
SLC5A5	6528	broad.mit.edu	37	19	17986765	17986765	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr19:17986765G>A	uc002nhr.4	+	4	895	c.548G>A	c.(547-549)gGc>gAc	p.G183D		NM_000453	NP_000444	Q92911	SC5A5_HUMAN	Homo sapiens solute carrier family 5 (sodium iodide symporter), member 5 (SLC5A5), mRNA.	183					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CTGCAGGGCGGCATGAAGGCT	0.612												
FAM187B	148109	broad.mit.edu	37	19	35718991	35718991	+	Missense_Mutation	SNP	A	A	C			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr19:35718991A>C	uc002nyk.1	-	0	638	c.593T>G	c.(592-594)gTg>gGg	p.V198G		NM_152481	NP_689694	Q17R55	F187B_HUMAN	Homo sapiens family with sequence similarity 187, member B (FAM187B), mRNA.	198						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						GCAGGCTTCCACCTGCAGCTC	0.542												
SYMPK	8189	broad.mit.edu	37	19	46338456	46338456	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr19:46338456C>T	uc002pdn.3	-	10	1518	c.1273G>A	c.(1273-1275)Gcc>Acc	p.A425T	SYMPK_uc002pdo.1_Missense_Mutation_p.A425T|SYMPK_uc002pdp.1_Missense_Mutation_p.A425T|SYMPK_uc002pdq.2_Missense_Mutation_p.A425T	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	Homo sapiens symplekin (SYMPK), mRNA.	425					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GCTGGCATGGCCTCGGGTAGG	0.572												
FAM83E	54854	broad.mit.edu	37	19	49106813	49106813	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr19:49106813G>A	uc002pjn.2	-	3	1179	c.1114C>T	c.(1114-1116)Cgc>Tgc	p.R372C		NM_017708	NP_060178	Q2M2I3	FA83E_HUMAN	Homo sapiens family with sequence similarity 83, member E (FAM83E), mRNA.	372			R -> H (in dbSNP:rs3745727).							NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CACATGGAGCGGCTgggccgg	0.692												
ZNF845	91664	broad.mit.edu	37	19	53854361	53854361	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr19:53854361C>A	uc010ydv.1	+	3	550	c.433C>A	c.(433-435)Cat>Aat	p.H145N	ZNF845_uc010ydw.1_Missense_Mutation_p.H145N	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ATCAAGCTTTCATTCGCATCT	0.428												
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	C	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr19:58385762C>G	uc002qqo.2	-	2	1268	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	Homo sapiens zinc finger protein 814 (ZNF814), mRNA.	332					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.S332S(4)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358												
CTNNA2	1496	broad.mit.edu	37	2	80874750	80874750	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr2:80874750T>C	uc010ysh.2	+	17	2620	c.2615T>C	c.(2614-2616)cTg>cCg	p.L872P	CTNNA2_uc010yse.2_Missense_Mutation_p.L824P|CTNNA2_uc010ysf.2_Missense_Mutation_p.L824P|CTNNA2_uc010ysg.2_Missense_Mutation_p.L779P|CTNNA2_uc010ysi.2_Missense_Mutation_p.L456P|CTNNA2_uc010ysj.2_Missense_Mutation_p.L153P	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	872					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GCTAAAAACCTGATGAATGCT	0.468												
RGPD4	285190	broad.mit.edu	37	2	108455335	108455335	+	Missense_Mutation	SNP	A	A	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr2:108455335A>T	uc010ywk.2	+	3	402	c.320A>T	c.(319-321)aAt>aTt	p.N107I	RGPD4_uc002tdu.3_5'UTR	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	107					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CTTTGTAAAAATGATGTTACT	0.333												
SCN9A	6335	broad.mit.edu	37	2	167159653	167159653	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr2:167159653T>C	uc010fpl.3	-	6	1189	c.848A>G	c.(847-849)aAt>aGt	p.N283S	SCN9A_uc002udr.1_Missense_Mutation_p.N154S|SCN9A_uc002uds.1_Missense_Mutation_p.N154S|SCN9A_uc002udt.1_Missense_Mutation_p.N154S	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	283						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TAATGTTTCATTATTTTCAAG	0.338												
ZSWIM2	151112	broad.mit.edu	37	2	187713851	187713851	+	Missense_Mutation	SNP	G	G	T	rs34437613		TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr2:187713851G>T	uc002upu.1	-	0	47	c.7C>A	c.(7-9)Cgc>Agc	p.R3S		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	3					apoptosis		zinc ion binding	p.R3L(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TAGCCTCGGCGAAGCATGCTG	0.642												
FAM126B	285172	broad.mit.edu	37	2	201846441	201846441	+	Missense_Mutation	SNP	C	C	T	rs138872845		TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr2:201846441C>T	uc002uws.4	-	11	1333	c.1145G>A	c.(1144-1146)cGt>cAt	p.R382H	FAM126B_uc002uwu.3_Missense_Mutation_p.R356H|FAM126B_uc002uwv.3_Missense_Mutation_p.R382H	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN	Homo sapiens family with sequence similarity 126, member B (FAM126B), mRNA.	382						intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						CTTGGCTGAACGCCCAGTTGC	0.493												
ZDBF2	57683	broad.mit.edu	37	2	207176262	207176262	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr2:207176262G>A	uc002vbp.2	+	4	7260	c.7010G>A	c.(7009-7011)cGt>cAt	p.R2337H		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	2337							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TTACAACAACGTGAGAGAATG	0.428												
CHRND	1144	broad.mit.edu	37	2	233394744	233394744	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr2:233394744T>C	uc002vsw.3	+	6	719	c.715T>C	c.(715-717)Tac>Cac	p.Y239H	CHRND_uc021vyi.1_Non-coding_Transcript|CHRND_uc010zmg.2_Missense_Mutation_p.Y224H|CHRND_uc010zmh.2_Intron	NM_000751	NP_000742	Q07001	ACHD_HUMAN	Homo sapiens cholinergic receptor, nicotinic, delta (CHRND), mRNA.	239					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		CATCACCTTCTACCTCATCAT	0.612												
ATG4B	23192	broad.mit.edu	37	2	242592988	242592988	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr2:242592988C>G	uc002wbv.3	+	3	349	c.246C>G	c.(244-246)atC>atG	p.I82M	ATG4B_uc002wbu.3_Missense_Mutation_p.I8M|ATG4B_uc002wbw.3_Missense_Mutation_p.I82M|ATG4B_uc010zox.2_Missense_Mutation_p.I68M|ATG4B_uc010zoy.2_Missense_Mutation_p.I8M|ATG4B_uc010fzp.3_Missense_Mutation_p.I82M|ATG4B_uc010zoz.2_Missense_Mutation_p.I8M	NM_013325	NP_037457	Q9Y4P1	ATG4B_HUMAN	Homo sapiens ATG4 autophagy related 4 homolog B (S. cerevisiae) (ATG4B), transcript variant 1, mRNA.	82					autophagic vacuole assembly|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity|protein binding	p.I82M(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)		GACAGATGATCTTTGCCCAAG	0.642												
SEC23B	10483	broad.mit.edu	37	20	18511418	18511418	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr20:18511418A>G	uc002wra.2	+	9	1665	c.1204A>G	c.(1204-1206)Atg>Gtg	p.M402V	SEC23B_uc010zsb.2_Missense_Mutation_p.M384V|SEC23B_uc002wrb.2_Missense_Mutation_p.M402V|SEC23B_uc002wqz.2_Missense_Mutation_p.M402V|SEC23B_uc002wrc.2_Missense_Mutation_p.M402V	NM_032985	NP_116781	Q15437	SC23B_HUMAN	Homo sapiens Sec23 homolog B (S. cerevisiae) (SEC23B), transcript variant 2, mRNA.	402					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						AGATTTCCGAATGGCATTTGG	0.398												
SRC	6714	broad.mit.edu	37	20	36030005	36030005	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr20:36030005G>A	uc002xgx.3	+	11	1489	c.1040_splice	c.e11-1	p.G347_splice	SRC_uc002xgy.3_Splice_Site_p.G347_splice|SRC_uc021wdd.1_5'Flank	NM_005417	NP_938033	P12931	SRC_HUMAN	Homo sapiens v-src sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog (avian) (SRC), transcript variant 1, mRNA.	347	Protein kinase.				axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Dasatinib(DB01254)	CTCTGCCCAGGGAGTTTGCTG	0.617												
KIAA1755	85449	broad.mit.edu	37	20	36841631	36841631	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr20:36841631C>T	uc002xhy.1	-	13	3688	c.3416G>A	c.(3415-3417)gGc>gAc	p.G1139D	KIAA1755_uc002xhv.1_Missense_Mutation_p.G203D|KIAA1755_uc002xhw.1_Missense_Mutation_p.G194D|KIAA1755_uc002xhx.1_Missense_Mutation_p.G417D	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	Homo sapiens KIAA1755 (KIAA1755), mRNA.	1139										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GGAGCCTTTGCCGTCTTCAGC	0.652												
LPIN3	64900	broad.mit.edu	37	20	39986528	39986528	+	Silent	SNP	G	G	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr20:39986528G>T	uc010ggh.3	+	16	2140	c.2049G>T	c.(2047-2049)ggG>ggT	p.G683G	LPIN3_uc002xjx.3_Silent_p.G682G|LPIN3_uc010zwf.2_Non-coding_Transcript	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN	Homo sapiens lipin 3 (LPIN3), mRNA.	682	C-LIP.				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)				TCAGAAATGGGTACAAGTTCC	0.622												
DPM1	8813	broad.mit.edu	37	20	49574949	49574949	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr20:49574949C>T	uc002xvw.1	-	0	112	c.112G>A	c.(112-114)Gag>Aag	p.E38K	DPM1_uc002xvx.1_Non-coding_Transcript|MOCS3_uc002xvy.1_5'Flank	NM_003859	NP_003850	O60762	DPM1_HUMAN	Homo sapiens dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit (DPM1), mRNA.	38					C-terminal protein lipidation|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation	dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction	dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						GGCAGGTTCTCGCGCTCGTTG	0.582												
NFATC2	4773	broad.mit.edu	37	20	50007936	50007936	+	Silent	SNP	C	C	T	rs148642400		TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr20:50007936C>T	uc002xwd.3	-	9	2995	c.2775G>A	c.(2773-2775)acG>acA	p.T925T	NFATC2_uc002xwc.3_3'UTR|NFATC2_uc010zyv.2_3'UTR|NFATC2_uc010zyw.2_Silent_p.T706T|NFATC2_uc002xwe.3_Silent_p.T905T|NFATC2_uc010zyx.2_3'UTR|NFATC2_uc010zyy.2_3'UTR|NFATC2_uc010zyz.2_Silent_p.T706T	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.	925					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GCTTCTTTTACGTCTGATTTC	0.498												
TMPRSS15	5651	broad.mit.edu	37	21	19651292	19651292	+	Missense_Mutation	SNP	A	A	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr21:19651292A>T	uc002ykw.3	-	22	2784	c.2753T>A	c.(2752-2754)gTt>gAt	p.V918D		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	918	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TTGATATACAACCGTCCCCCA	0.328												
IFNGR2	3460	broad.mit.edu	37	21	34805024	34805024	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr21:34805024C>G	uc002yrp.4	+	5	1373	c.725C>G	c.(724-726)tCc>tGc	p.S242C	TMEM50B_uc002yrs.2_Non-coding_Transcript	NM_005534	NP_005525	P38484	INGR2_HUMAN	Homo sapiens interferon gamma receptor 2 (interferon gamma transducer 1) (IFNGR2), mRNA.	242					regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	TTTTTAGCCTCCACTGAGCTT	0.468												
ZFYVE20	64145	broad.mit.edu	37	3	15123959	15123959	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr3:15123959C>A	uc003bzm.1	-	8	1369	c.755G>T	c.(754-756)tGt>tTt	p.C252F	ZFYVE20_uc010hek.1_Missense_Mutation_p.C252F|ZFYVE20_uc011avn.1_Intron	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	Homo sapiens zinc finger, FYVE domain containing 20 (ZFYVE20), mRNA.	252	Necessary for the correct targeting to endosomes.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						GCAGTGTGTACAGCAGCGGAT	0.572												
FLNB	2317	broad.mit.edu	37	3	58141766	58141766	+	Silent	SNP	C	C	T	rs113304692		TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr3:58141766C>T	uc003djj.2	+	40	7017	c.6852C>T	c.(6850-6852)tcC>tcT	p.S2284S	FLNB_uc010hne.2_Silent_p.S2315S|FLNB_uc003djk.2_Silent_p.S2273S|FLNB_uc010hnf.2_Silent_p.S2260S|FLNB_uc003djl.2_Silent_p.S2104S|FLNB_uc003djm.2_Silent_p.S2091S	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	2284	Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TCGCACCCTCCGACGACGCCC	0.587												
ROBO1	6091	broad.mit.edu	37	3	78711202	78711202	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr3:78711202C>T	uc003dqe.2	-	14	2237	c.2029G>A	c.(2029-2031)Gtt>Att	p.V677I	ROBO1_uc003dqc.2_Missense_Mutation_p.V641I|ROBO1_uc003dqd.2_Missense_Mutation_p.V641I|ROBO1_uc003dqb.2_Missense_Mutation_p.V638I|ROBO1_uc010hoh.2_5'UTR|ROBO1_uc011bgl.1_Missense_Mutation_p.V249I|ROBO1_uc003dqf.1_Missense_Mutation_p.V356I	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	677	Fibronectin type-III 2.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	p.V654F(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		AGGTGCAGAACAGCATTTCCC	0.483												
OR5H1	26341	broad.mit.edu	37	3	97851558	97851558	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr3:97851558C>G	uc011bgt.2	+	0	17	c.17C>G	c.(16-18)gCa>gGa	p.A6G		NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 1 (OR5H1), mRNA.	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						GAGGAAAATGCAACATTGCTG	0.393												
CEP70	80321	broad.mit.edu	37	3	138216906	138216906	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr3:138216906G>A	uc003esl.3	-	16	1897	c.1699C>T	c.(1699-1701)Cag>Tag	p.Q567*	CEP70_uc011bmk.2_Nonsense_Mutation_p.Q547*|CEP70_uc011bml.2_Nonsense_Mutation_p.Q549*|CEP70_uc011bmm.2_Nonsense_Mutation_p.Q415*	NM_024491	NP_077817	Q8NHQ1	CEP70_HUMAN	Homo sapiens centrosomal protein 70kDa (CEP70), mRNA.	567					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						GTAAATGCCTGAAATGCTGGG	0.343												
NAALADL2	254827	broad.mit.edu	37	3	174814645	174814645	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr3:174814645G>A	uc003fit.3	+	1	196	c.109G>A	c.(109-111)Gac>Aac	p.D37N	NAALADL2_uc003fiu.1_Missense_Mutation_p.D30N	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA.	37					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		ACAGTACTTAGACAATGATGA	0.413												
PDGFRA	5156	broad.mit.edu	37	4	55131142	55131142	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr4:55131142G>A	uc003han.4	+	4	1016	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K	PDGFRA_uc003haa.3_Intron|PDGFRA_uc003hal.3_3'UTR|PDGFRA_uc010igq.1_Missense_Mutation_p.E123K|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	229	Ig-like C2-type 3.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TAAGTCAGGGGAAACGATTGT	0.423			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)		
LRBA	987	broad.mit.edu	37	4	151357950	151357950	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr4:151357950C>A	uc010ipj.3	-	45	7124	c.6880G>T	c.(6880-6882)Gat>Tat	p.D2294Y	LRBA_uc010ipi.3_5'UTR|LRBA_uc003ils.4_Missense_Mutation_p.D184Y|LRBA_uc003ilt.4_Missense_Mutation_p.D942Y|LRBA_uc003ilu.4_Missense_Mutation_p.D2283Y	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	2294	BEACH.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GGAACTTGATCATCTTCCCAT	0.388												
FGG	2266	broad.mit.edu	37	4	155528109	155528109	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr4:155528109C>T	uc003ioj.3	-	7	1018	c.877G>A	c.(877-879)Gtg>Atg	p.V293M	FGG_uc003iog.3_Missense_Mutation_p.V293M	NM_021870	NP_068656	P02679	FIBG_HUMAN	Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA.	293	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TCAGGTCCCACCTTGAACATG	0.493												
SPEF2	79925	broad.mit.edu	37	5	35659271	35659271	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr5:35659271C>T	uc003jjo.3	+	7	1240	c.1129C>T	c.(1129-1131)Cga>Tga	p.R377*	SPEF2_uc003jjn.1_Nonsense_Mutation_p.R377*|SPEF2_uc003jjq.4_Nonsense_Mutation_p.R377*	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	377					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.R377*(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGAGGAAAGACGACTTAAAGA	0.408												
ANXA2R	389289	broad.mit.edu	37	5	43040065	43040065	+	Silent	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr5:43040065C>T	uc003jnf.3	-	0	383	c.84G>A	c.(82-84)gtG>gtA	p.V28V	LOC153684_uc003jng.2_5'Flank|LOC153684_uc003jni.2_5'Flank	NM_001014279	NP_001014301	Q3ZCQ2	AX2R_HUMAN	Homo sapiens chromosome 5 open reading frame 39 (C5orf39), mRNA.	28							receptor activity										CTTCTGAACTCACAATAGGTG	0.557											OREG0016598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ITGA1	3672	broad.mit.edu	37	5	52145207	52145207	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr5:52145207C>T	uc003jou.3	+	1	484	c.70C>T	c.(70-72)Cgc>Tgc	p.R24C	ITGA1_uc003jov.3_Non-coding_Transcript	NM_181501	NP_852478	P56199	ITA1_HUMAN	Homo sapiens integrin, alpha 1 (ITGA1), mRNA.	24					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AGTTGTTCTACGCTGCTGCGT	0.373												
ANKRD34B	340120	broad.mit.edu	37	5	79855139	79855139	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr5:79855139C>T	uc010jam.3	-	3	1050	c.700G>A	c.(700-702)Gca>Aca	p.A234T	ANKRD34B_uc003kgw.3_Missense_Mutation_p.A234T|ANKRD34B_uc010jan.3_Missense_Mutation_p.A234T|ANKRD34B_uc021yax.1_Missense_Mutation_p.A234T	NM_001004441	NP_001004441	A5PLL1	AN34B_HUMAN	Homo sapiens ankyrin repeat domain 34B (ANKRD34B), mRNA.	234						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		GGGGCCAATGCAGGTTTCCTC	0.522												
SLCO4C1	353189	broad.mit.edu	37	5	101585466	101585466	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr5:101585466G>A	uc003knm.3	-	8	1783	c.1496C>T	c.(1495-1497)gCc>gTc	p.A499V		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.	499	Kazal-like.				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		ATTACAAGGGGCTATCAAGTT	0.373												
TXNDC15	79770	broad.mit.edu	37	5	134223439	134223439	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr5:134223439A>G	uc003lac.1	+	1	816	c.158A>G	c.(157-159)cAg>cGg	p.Q53R	TXNDC15_uc010jdy.1_Intron	NM_024715	NP_078991	Q96J42	TXD15_HUMAN	Homo sapiens thioredoxin domain containing 15 (TXNDC15), mRNA.	53					cell redox homeostasis	integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CACCCTCTCCAGGTGGGGGCT	0.567												
CDC23	8697	broad.mit.edu	37	5	137548883	137548883	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr5:137548883G>A	uc003lcl.3	-	0	150	c.119C>T	c.(118-120)gCg>gTg	p.A40V	CDC23_uc003lcm.1_Missense_Mutation_p.A40V	NM_004661	NP_004652	Q9UJX2	CDC23_HUMAN	Homo sapiens cell division cycle 23 homolog (S. cerevisiae) (CDC23), mRNA.	40					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGTAAGGCCCGCAATAAGCAG	0.572												
FAM53C	51307	broad.mit.edu	37	5	137682463	137682463	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr5:137682463A>G	uc003lcv.3	+	4	1464	c.994A>G	c.(994-996)Atg>Gtg	p.M332V	FAM53C_uc003lcw.3_Missense_Mutation_p.M332V|FAM53C_uc011cyq.2_Non-coding_Transcript|FAM53C_uc011cyr.2_3'UTR	NM_001135647	NP_057689	Q9NYF3	FA53C_HUMAN	Homo sapiens family with sequence similarity 53, member C (FAM53C), transcript variant 1, mRNA.	332										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ACCATGGTTCATGGCCTGTAG	0.572												
PCDHAC2	56147	broad.mit.edu	37	5	140167728	140167728	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr5:140167728C>T	uc003lhb.2	+	0	1853	c.1853C>T	c.(1852-1854)gCg>gTg	p.A618V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lgz.3_Missense_Mutation_p.A618V	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	629	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGGCGGCGCGCGCATCCCG	0.672												
PCDHB7	56129	broad.mit.edu	37	5	140553181	140553181	+	Silent	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr5:140553181C>T	uc003lit.3	+	0	939	c.765C>T	c.(763-765)agC>agT	p.S255S		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	255	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGAAAATAGCCCCGTTGGTT	0.507												
SLC34A1	6569	broad.mit.edu	37	5	176815108	176815108	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr5:176815108C>A	uc003mgk.4	+	6	862	c.758C>A	c.(757-759)gCc>gAc	p.A253D	SLC34A1_uc021yis.1_Missense_Mutation_p.A253D	NM_003052	NP_003043	Q06495	NPT2A_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 1 (SLC34A1), transcript variant 1, mRNA.	253					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTGTGGTGGCCTCCTTCAAC	0.592												
FLT4	2324	broad.mit.edu	37	5	180048821	180048821	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr5:180048821C>T	uc003mlz.4	-	12	1820	c.1741G>A	c.(1741-1743)Gac>Aac	p.D581N	FLT4_uc003mma.4_Missense_Mutation_p.D581N|FLT4_uc003mmb.1_Missense_Mutation_p.D114N|FLT4_uc011dgy.2_Missense_Mutation_p.D581N	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	581	Ig-like C2-type 6.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TTGTAGCTGTCGGCTTGGCAG	0.617												
NKAPL	222698	broad.mit.edu	37	6	28227888	28227888	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr6:28227888G>A	uc003nkt.3	+	0	791	c.739G>A	c.(739-741)Gaa>Aaa	p.E247K	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	Homo sapiens NFKB activating protein-like (NKAPL), mRNA.	247										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						AACCAAAAAAGAATCCAGTGA	0.368												
PKHD1	5314	broad.mit.edu	37	6	51768472	51768472	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr6:51768472C>T	uc003pah.1	-	42	7195	c.6919G>A	c.(6919-6921)Ggt>Agt	p.G2307S	PKHD1_uc010jzn.1_Missense_Mutation_p.G290S|PKHD1_uc003pai.3_Missense_Mutation_p.G2307S	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	2307					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCCTCGGCACCAGAAACCTGG	0.418												
BMP5	653	broad.mit.edu	37	6	55638880	55638880	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr6:55638880G>A	uc003pcq.3	-	3	1706	c.994C>T	c.(994-996)Cat>Tat	p.H332Y	BMP5_uc011dxf.2_Missense_Mutation_p.H332Y	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	332					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			GAGTCCTGATGAGAGCTGGAT	0.468												
BEND6	221336	broad.mit.edu	37	6	56883316	56883316	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr6:56883316C>G	uc010kab.3	+	5	1396	c.810C>G	c.(808-810)agC>agG	p.S270R	BEND6_uc003pdi.4_Missense_Mutation_p.S172R	NM_152731	NP_689944	Q5SZJ8	BEND6_HUMAN	Homo sapiens BEN domain containing 6 (BEND6), mRNA.	270	BEN.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						CAAATTTAAGCAAAAATCTTA	0.313												
KHDRBS2	202559	broad.mit.edu	37	6	62611257	62611257	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr6:62611257C>T	uc003peg.2	-	4	750	c.503G>A	c.(502-504)cGt>cAt	p.R168H		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	168					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TTGTTCCTGACGAATTTCATC	0.403												
SNAP91	9892	broad.mit.edu	37	6	84303343	84303343	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr6:84303343G>C	uc021zcf.1	-	16	1580	c.1550C>G	c.(1549-1551)cCa>cGa	p.P517R	SNAP91_uc011dzd.2_Missense_Mutation_p.P20R|SNAP91_uc003pka.3_Missense_Mutation_p.P515R|SNAP91_uc011dze.2_Missense_Mutation_p.P515R|SNAP91_uc003pkc.3_Missense_Mutation_p.P515R|SNAP91_uc003pkd.3_Intron|SNAP91_uc003pkb.3_Missense_Mutation_p.P480R	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	517	Ala-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TGCGGGAACTGGAGGGGCTGT	0.607												
MAP3K7	6885	broad.mit.edu	37	6	91266234	91266234	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr6:91266234G>A	uc003pnz.1	-	5	897	c.592C>T	c.(592-594)Cct>Tct	p.P198S	MAP3K7_uc003pob.1_Missense_Mutation_p.P198S|MAP3K7_uc003poa.1_Missense_Mutation_p.P198S|MAP3K7_uc003poc.1_Missense_Mutation_p.P198S	NM_145331	NP_663304	O43318	M3K7_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 7 (MAP3K7), transcript variant B, mRNA.	198	Protein kinase.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		AAAACTTCAGGTGCCATCCAA	0.403												
SEPT7	989	broad.mit.edu	37	7	35942771	35942771	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr7:35942771A>G	uc010kxc.3	+	11	1438	c.1214A>G	c.(1213-1215)gAg>gGg	p.E405G	SEPT7_uc011kat.2_Missense_Mutation_p.E405G|SEPT7_uc011kau.2_Missense_Mutation_p.E371G|SEPT7_uc011kav.2_Missense_Mutation_p.E354G	NM_001788	NP_001779	Q16181	SEPT7_HUMAN	Homo sapiens septin 7 (SEPT7), transcript variant 1, mRNA.	407					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			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						TTCGAGGATGAGAAAGCAAAC	0.383												
RBM48	84060	broad.mit.edu	37	7	92163996	92163997	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr7:92163996_92163997delTT	uc003uma.3	+	3	770_771	c.729_730delTT	c.(727-732)tctttgfs	p.S243fs	RBM48_uc003ulz.3_Frame_Shift_Del_p.S243fs			Q5RL73	CG064_HUMAN	Homo sapiens RNA binding motif protein 48 (RBM48), mRNA.	243							nucleotide binding										ACAATGACTCTTTGCGGAAAAC	0.450												
SRRT	51593	broad.mit.edu	37	7	100485931	100485931	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr7:100485931C>G	uc003uwy.2	+	18	2749	c.2482C>G	c.(2482-2484)Ccg>Gcg	p.P828A	SRRT_uc010lhl.1_Missense_Mutation_p.P827A|SRRT_uc003uxa.2_Missense_Mutation_p.P823A|SRRT_uc003uwz.2_Missense_Mutation_p.P824A|DJ051769_uc010lhm.1_5'Flank	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	Homo sapiens serrate RNA effector molecule homolog (Arabidopsis) (SRRT), transcript variant 1, mRNA.	828	Pro-rich.				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	p.P828Q(1)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CCCCCATGCCCCGTATGGTGC	0.577												
LAMB4	22798	broad.mit.edu	37	7	107708521	107708521	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr7:107708521C>T	uc010ljo.1	-	18	2470	c.2386G>A	c.(2386-2388)Ggg>Agg	p.G796R	LAMB4_uc003vey.2_Missense_Mutation_p.G796R	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	796	Laminin EGF-like 6.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CAGCAGCGCCCGACCACAAGA	0.567												
GPR85	54329	broad.mit.edu	37	7	112724397	112724397	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr7:112724397C>T	uc010ljv.2	-	1	897	c.380G>A	c.(379-381)cGc>cAc	p.R127H	GPR85_uc003vgp.1_Missense_Mutation_p.R127H|GPR85_uc003vgq.2_Missense_Mutation_p.R127H|GPR85_uc010ljw.1_Missense_Mutation_p.R127H|GPR85_uc022akd.1_Missense_Mutation_p.R127H	NM_001146266	NP_061843	P60893	GPR85_HUMAN	Homo sapiens G protein-coupled receptor 85 (GPR85), transcript variant 3, mRNA.	127						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						TGTATAGAAGCGGTGATGGGC	0.493												
GRM8	2918	broad.mit.edu	37	7	126173579	126173579	+	Silent	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr7:126173579G>A	uc003vlr.2	-	7	2168	c.1857C>T	c.(1855-1857)cgC>cgT	p.R619R	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.R619R|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	619					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.R619R(2)|p.R619L(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AACTAAGTTCGCGTCCTGAAG	0.458										HNSCC(24;0.065)		
CALD1	800	broad.mit.edu	37	7	134618735	134618735	+	Silent	SNP	A	A	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr7:134618735A>G	uc003vrz.3	+	4	1681	c.1215A>G	c.(1213-1215)aaA>aaG	p.K405K	CALD1_uc003vry.3_Intron|CALD1_uc003vsb.3_Intron|CALD1_uc011kpt.2_Intron|CALD1_uc010lmm.3_Intron|CALD1_uc003vsc.3_Intron|CALD1_uc003vsd.3_Intron|CALD1_uc011kpu.2_Intron|CALD1_uc011kpv.2_Intron|CALD1_uc003vse.3_Silent_p.K269K	NM_033138	NP_149129	Q05682	CALD1_HUMAN	Homo sapiens caldesmon 1 (CALD1), transcript variant 1, mRNA.	405					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						CAAAGATAAAAGGGGAAAAGG	0.418												
NOM1	64434	broad.mit.edu	37	7	156743209	156743211	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr7:156743209_156743211delGAG	uc003wmy.3	+	0	793_795	c.778_780delGAG	c.(778-780)gagdel	p.E264del		NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	Homo sapiens nucleolar protein with MIF4G domain 1 (NOM1), mRNA.	264	Glu-rich.|Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.				RNA metabolic process	nucleolus	protein binding	p.E264*(1)		endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		ggacgaaagtgaggaggaggagg	0.552												
ADAM2	2515	broad.mit.edu	37	8	39626970	39626970	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr8:39626970C>A	uc003xnj.3	-	11	1228	c.1153G>T	c.(1153-1155)Gca>Tca	p.A385S	ADAM2_uc003xnk.3_Missense_Mutation_p.A366S|ADAM2_uc011lck.2_Missense_Mutation_p.A385S|ADAM2_uc003xnl.3_Missense_Mutation_p.A259S	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	385	Disintegrin.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.A385V(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CCACACACTGCTTGCTGTTTG	0.448												
PLAT	5327	broad.mit.edu	37	8	42042617	42042617	+	Missense_Mutation	SNP	T	T	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr8:42042617T>G	uc003xos.2	-	6	822	c.613A>C	c.(613-615)Acc>Ccc	p.T205P	PLAT_uc010lxf.1_Missense_Mutation_p.T122P|PLAT_uc010lxg.1_Intron|PLAT_uc003xot.2_Missense_Mutation_p.T159P|PLAT_uc011lcm.1_Intron|PLAT_uc011lcn.1_Intron	NM_000930	NP_000921	P00750	TPA_HUMAN	Homo sapiens plasminogen activator, tissue (PLAT), transcript variant 1, mRNA.	205	Kringle 1.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CAGGCAGGGGTGCTGCAGAAC	0.587												
TMEM55A	55529	broad.mit.edu	37	8	92007945	92007945	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr8:92007945C>T	uc003yes.3	-	6	960	c.734G>A	c.(733-735)gGa>gAa	p.G245E		NM_018710	NP_061180	Q8N4L2	TM55A_HUMAN	Homo sapiens transmembrane protein 55A (TMEM55A), mRNA.	245						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			TCTTATGGCTCCCCAATAACA	0.438												
TRPS1	7227	broad.mit.edu	37	8	116430676	116430676	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr8:116430676C>T	uc003yny.3	-	5	3283	c.2705G>A	c.(2704-2706)cGt>cAt	p.R902H	TRPS1_uc011lhy.2_Missense_Mutation_p.R893H|TRPS1_uc003ynz.3_Missense_Mutation_p.R889H|TRPS1_uc010mcy.3_Missense_Mutation_p.R889H	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	889					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GGAGCCTCTACGCCTCTGAAA	0.478									Langer-Giedion syndrome			
RANBP6	26953	broad.mit.edu	37	9	6012502	6012502	+	Missense_Mutation	SNP	T	T	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr9:6012502T>G	uc003zjr.3	-	0	3139	c.3106A>C	c.(3106-3108)Att>Ctt	p.I1036L	RANBP6_uc011lmf.2_Missense_Mutation_p.I684L|RANBP6_uc003zjs.3_3'UTR	NM_012416	NP_036548	O60518	RNBP6_HUMAN	Homo sapiens RAN binding protein 6 (RANBP6), transcript variant 1, mRNA.	1036					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		TTTGGACCAATTACAACTGGG	0.368												
C9orf41	138199	broad.mit.edu	37	9	77631261	77631261	+	Missense_Mutation	SNP	T	T	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr9:77631261T>G	uc004ajq.3	-	2	666	c.513A>C	c.(511-513)gaA>gaC	p.E171D	C9orf41_uc011lsi.1_Non-coding_Transcript	NM_152420	NP_689633	Q8N4J0	CI041_HUMAN	Homo sapiens chromosome 9 open reading frame 41 (C9orf41), mRNA.	171										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						CTTTCCCAGTTTCACTCCAGT	0.353												
TLE1	7088	broad.mit.edu	37	9	84200544	84200544	+	Silent	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr9:84200544G>A	uc004alz.3	-	17	2475	c.2034C>T	c.(2032-2034)acC>acT	p.T678T	TLE1_uc004aly.3_Silent_p.T668T|TLE1_uc011lsr.2_Silent_p.T653T	NM_005077	NP_005068	Q04724	TLE1_HUMAN	Homo sapiens transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) (TLE1), mRNA.	668					negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						GCCACTCCCCGGTGGGGCAGT	0.557												
FAM22F	54754	broad.mit.edu	37	9	97081002	97081002	+	Silent	SNP	G	G	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr9:97081002G>T	uc004aup.1	-	6	2037	c.2016C>A	c.(2014-2016)ccC>ccA	p.P672P		NM_017561	NP_060031	A1L443	FA22F_HUMAN	Homo sapiens family with sequence similarity 22, member F (FAM22F), mRNA.	672										central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(2)|prostate(2)|skin(2)|urinary_tract(1)	19		Acute lymphoblastic leukemia(62;0.136)				GAGCTCCCTGGGGTCCTCTCC	0.607												
FAM22G	441457	broad.mit.edu	37	9	99694201	99694201	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr9:99694201G>A	uc022bkp.1	+	1	235	c.214G>A	c.(214-216)Ggc>Agc	p.G72S	FAM22G_uc004awq.2_Missense_Mutation_p.G72S	NM_001170741	NP_001164212	Q5VZR2	FA22G_HUMAN	Homo sapiens family with sequence similarity 22, member G (FAM22G), transcript variant 2, mRNA.	72										central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(5)|skin(2)|stomach(1)	17		Acute lymphoblastic leukemia(62;0.0527)				GGATGGCCGCGGCCCAAGTGG	0.642												
ZBED1	9189	broad.mit.edu	37	X	2407889	2407889	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:2407889A>G	uc022brx.1	-	0	872	c.872T>C	c.(871-873)cTg>cCg	p.L291P	DHRSX_uc004cqf.4_Intron|ZBED1_uc004cqh.2_Missense_Mutation_p.L291P|ZBED1_uc004cqg.2_Missense_Mutation_p.L291P|ZBED1_uc022brw.1_Missense_Mutation_p.L291P	NM_004729	NP_004720	O96006	ZBED1_HUMAN	Homo sapiens zinc finger, BED-type containing 1 (ZBED1), transcript variant 2, mRNA.	291						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGTGTGGCCCAGGCAGGGCAT	0.647												
ARX	170302	broad.mit.edu	37	X	25031255	25031255	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:25031255C>G	uc004dbp.4	-	1	1068	c.857G>C	c.(856-858)gGc>gCc	p.G286A		NM_139058	NP_620689	Q96QS3	ARX_HUMAN	Homo sapiens aristaless related homeobox (ARX), mRNA.	286			G -> S (in MRX54; dbSNP:rs28935479).			nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|lung(1)	4						CAGCTCCCCGCCCTCTGTGGC	0.726												
DMD	1756	broad.mit.edu	37	X	32305784	32305784	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:32305784C>T	uc004dda.1	-	42	6396	c.6152G>A	c.(6151-6153)cGg>cAg	p.R2051Q	DMD_uc004dcw.2_Missense_Mutation_p.R707Q|DMD_uc004dcx.2_Missense_Mutation_p.R710Q|DMD_uc004dcz.2_Missense_Mutation_p.R1928Q|DMD_uc004dcy.1_Missense_Mutation_p.R2047Q|DMD_uc004ddb.1_Missense_Mutation_p.R2043Q|DMD_uc010ngo.1_Intron|DMD_uc010ngn.1_Non-coding_Transcript	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	2051					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AATGTCAATCCGACCTGAGCT	0.348												
RBM3	5935	broad.mit.edu	37	X	48433596	48433596	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:48433596G>C	uc004dkf.2	+	1	262	c.28G>C	c.(28-30)Gtg>Ctg	p.V10L		NM_006743	NP_006734	P98179	RBM3_HUMAN	Homo sapiens RNA binding motif (RNP1, RRM) protein 3 (RBM3), mRNA.	10	RRM.				positive regulation of translation	dendrite|nucleus	nucleotide binding|RNA binding			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						AAAGCTCTTCGTGGGAGGGCT	0.502											OREG0019765	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CLCN5	1184	broad.mit.edu	37	X	49851112	49851112	+	Frame_Shift_Del	DEL	A	A	-			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:49851112delA	uc004dos.1	+	7	1180	c.932delA	c.(931-933)cacfs	p.H311fs	CLCN5_uc004dor.1_Frame_Shift_Del_p.H381fs|CLCN5_uc004doq.1_Frame_Shift_Del_p.H381fs|CLCN5_uc004dot.1_Frame_Shift_Del_p.H311fs	NM_000084	NP_000075	P51795	CLCN5_HUMAN	Homo sapiens chloride channel 5 (CLCN5), transcript variant 3, mRNA.	311					excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					GTGGAGTTTCACACCCCATGG	0.498												
USP51	158880	broad.mit.edu	37	X	55513943	55513943	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:55513943G>A	uc022bxu.1	-	0	1430	c.1430C>T	c.(1429-1431)cCc>cTc	p.P477L	USP51_uc004dun.2_Missense_Mutation_p.P477L	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN	Homo sapiens ubiquitin specific peptidase 51 (USP51), mRNA.	477					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						ACAGCAGTTGGGGTTATTGGC	0.478												
NRK	203447	broad.mit.edu	37	X	105159747	105159747	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:105159747C>T	uc004emd.3	+	14	2678	c.2375C>T	c.(2374-2376)cCt>cTt	p.P792L	NRK_uc010npc.1_Missense_Mutation_p.P460L	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	792							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CCTTCTGTGCCTAACAACCAG	0.313										HNSCC(51;0.14)		
LHFPL1	340596	broad.mit.edu	37	X	111914414	111914414	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:111914414G>A	uc004epp.3	-	0	347	c.274C>T	c.(274-276)Cgc>Tgc	p.R92C	LHFPL1_uc004epq.3_Missense_Mutation_p.R69C|LHFPL1_uc010nqa.3_Intron|LHFPL1_uc010nqb.3_Missense_Mutation_p.R69C	NM_178175	NP_835469	Q86WI0	LHPL1_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 1 (LHFPL1), mRNA.	69						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						CTGGCATAGCGCCCACATTCT	0.592												
HTR2C	3358	broad.mit.edu	37	X	114082719	114082719	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:114082719G>A	uc004epu.1	+	4	1231	c.503G>A	c.(502-504)cGg>cAg	p.R168Q	HTR2C_uc010nqc.1_Missense_Mutation_p.R168Q|HTR2C_uc004epv.1_Intron	NM_000868	NP_000859	P28335	5HT2C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2C (HTR2C), mRNA.	168					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	p.R168Q(2)|p.S167L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	TTCAATTCGCGGACTAAGGCC	0.408												
MAGEC3	139081	broad.mit.edu	37	X	140985023	140985023	+	Silent	SNP	T	T	C			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:140985023T>C	uc011mwp.2	+	6	1479	c.1479T>C	c.(1477-1479)taT>taC	p.Y493Y	MAGEC3_uc004fbs.3_Silent_p.Y195Y|MAGEC3_uc010nsj.3_Silent_p.Y195Y|MAGEC3_uc022cfh.1_Silent_p.Y195Y	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	493	MAGE 2.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					ATAAGGACTATTTTCCCATGA	0.438												
MTMR1	8776	broad.mit.edu	37	X	149924177	149924177	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:149924177C>T	uc004feh.1	+	14	1832	c.1697C>T	c.(1696-1698)aCg>aTg	p.T566M	MTMR1_uc011mya.1_Missense_Mutation_p.T464M|MTMR1_uc004fei.3_Missense_Mutation_p.T558M|MTMR1_uc004fej.3_Non-coding_Transcript|MTMR1_uc010ntf.3_Non-coding_Transcript	NM_003828	NP_003819	Q13613	MTMR1_HUMAN	Homo sapiens myotubularin related protein 1 (MTMR1), mRNA.	558	Myotubularin phosphatase.					plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TATACAAAGACGATATCTTTA	0.323												
FAM3A	60343	broad.mit.edu	37	X	153736149	153736149	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:153736149C>A	uc004flt.2	-	6	946	c.420G>T	c.(418-420)tgG>tgT	p.W140C	FAM3A_uc011mzp.2_Intron|FAM3A_uc022cih.1_Missense_Mutation_p.W88C|FAM3A_uc004flw.2_Missense_Mutation_p.W126C|FAM3A_uc004fls.2_Missense_Mutation_p.W126C	NM_001171133	NP_001164604	P98173	FAM3A_HUMAN	Homo sapiens family with sequence similarity 3, member A (FAM3A), transcript variant 3, mRNA.	126						extracellular region				kidney(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CACCTCCGGCCCACATGTCAA	0.627												
