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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
LAMB2	3913	broad.mit.edu	37	3	49158999	49158999	+	Silent	SNP	C	C	T			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr3:49158999C>T	uc003cwe.3	-	30	5426	c.5127G>A	c.(5125-5127)caG>caA	p.Q1709Q	USP19_uc003cwb.3_5'Flank|USP19_uc003cvz.4_5'Flank|USP19_uc011bcg.2_5'Flank|USP19_uc011bch.2_5'Flank|USP19_uc003cwd.2_5'Flank|USP19_uc011bci.2_5'Flank	NM_002292	NP_002283	P55268	LAMB2_HUMAN	Homo sapiens laminin, beta 2 (laminin S) (LAMB2), mRNA.	1709	Domain I.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCGTCTGGTACTGATCACCCA	0.607000													5	205					0	0	1	0	0
POU4F1	5457	broad.mit.edu	37	13	79175599	79175599	+	Missense_Mutation	SNP	C	C	A			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr13:79175599C>A	uc001vkv.3	-	1	1445	c.1211G>T	c.(1210-1212)tGc>tTc	p.C404F	BX647243_uc001vku.1_Intron	NM_006237	NP_006228	Q01851	PO4F1_HUMAN	Homo sapiens POU class 4 homeobox 1 (POU4F1), mRNA.	404					axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		TCTCTGGTTGCAAAACCACAC	0.597000													10	23					1.08611e-07	1.10972e-07	1	1	0
UNC80	285175	broad.mit.edu	37	2	210714187	210714187	+	Missense_Mutation	SNP	T	T	G			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr2:210714187T>G	uc010zjc.1	+	21	3553	c.3473T>G	c.(3472-3474)tTt>tGt	p.F1158C	UNC80_uc021vvx.1_Missense_Mutation_p.F1153C|UNC80_uc002vdk.2_Missense_Mutation_p.F319C	NM_032504	NP_115893	Q8N2C7	UNC80_HUMAN	Homo sapiens unc-80 homolog (C. elegans) (UNC80), transcript variant 1, mRNA.	1158						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						TGCCACAGTTTTGATGATCAT	0.418000													48	89					0	0	1	0	0
CAMTA2	23125	broad.mit.edu	37	17	4877742	4877742	+	Missense_Mutation	SNP	T	T	G			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr17:4877742T>G	uc010cku.2	-	11	2435	c.2023A>C	c.(2023-2025)Atg>Ctg	p.M675L	CAMTA2_uc002gag.2_Missense_Mutation_p.M651L|CAMTA2_uc002gah.2_Missense_Mutation_p.M652L|CAMTA2_uc002gai.2_Missense_Mutation_p.M654L|CAMTA2_uc010ckv.1_Missense_Mutation_p.M299L	NM_001171167	NP_001164638	O94983	CMTA2_HUMAN	Homo sapiens calmodulin binding transcription activator 2 (CAMTA2), transcript variant 4, mRNA.	652					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						ATCTCTGCCATCCGCTTCTCC	0.597000													74	81					0	0	1	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	102226	102226	+	Missense_Mutation	SNP	T	T	G			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chrGL000209.1:102226T>G	uc021vdb.1	+	2	172	c.161T>G	c.(160-162)aTg>aGg	p.M54R	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc010yie.2_Intron|KIR2DL2_uc002qul.2_Missense_Mutation_p.M54R	NM_014513	NP_055328	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 (KIR2DS5), mRNA.	54	Ig-like C2-type 1.				regulation of immune response	integral to membrane|plasma membrane	receptor activity										TCAGATGTCATGTTTGAGCAC	0.522000													3	69					0	0	1	0	0
BCL2L1	598	broad.mit.edu	37	20	30253881	30253881	+	Silent	SNP	A	A	G			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr20:30253881A>G	uc002wwl.3	-	2	939	c.573T>C	c.(571-573)ttT>ttC	p.F191F	BCL2L1_uc002wwk.3_Non-coding_Transcript|BCL2L1_uc002wwm.3_Silent_p.F128F|BCL2L1_uc002wwn.3_Silent_p.F191F	NM_138578	NP_612815	Q07817	B2CL1_HUMAN	Homo sapiens BCL2-like 1 (BCL2L1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	191					induction of apoptosis by intracellular signals|negative regulation of establishment of protein localization in plasma membrane|negative regulation of survival gene product expression|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|release of cytochrome c from mitochondria|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nuclear membrane	BH3 domain binding|identical protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			AGAGTTCCACAAAAGTATCCT	0.567000													59	52					0	0	1	0	0
OR5H2	79310	broad.mit.edu	37	3	98001882	98001882	+	Missense_Mutation	SNP	A	A	C			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr3:98001882A>C	uc003dsj.1	+	0	151	c.151A>C	c.(151-153)Att>Ctt	p.I51L		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						CCTTGGTCTGATTGCTCTTAT	0.433000													78	141					0	0	1	0	0
ADD1	118	broad.mit.edu	37	4	2883755	2883755	+	Missense_Mutation	SNP	C	C	A			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr4:2883755C>A	uc003gfq.3	+	2	514	c.326C>A	c.(325-327)gCt>gAt	p.A109D	ADD1_uc010ico.1_Missense_Mutation_p.A109D|ADD1_uc003gfo.3_Missense_Mutation_p.A109D|ADD1_uc003gfp.3_Missense_Mutation_p.A109D|ADD1_uc003gfr.3_Missense_Mutation_p.A109D|ADD1_uc003gfs.3_Missense_Mutation_p.A109D|ADD1_uc003gft.3_Missense_Mutation_p.A109D	NM_014189	NP_054908	P35611	ADDA_HUMAN	Homo sapiens adducin 1 (alpha) (ADD1), transcript variant 2, mRNA.	109					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	F-actin capping protein complex|cytosol|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TACCCAGCAGCTCCGCAAGGA	0.423000													62	92					4.493e-44	4.91095e-44	1	1	0
GLI1	2735	broad.mit.edu	37	12	57861257	57861257	+	Missense_Mutation	SNP	C	C	A			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr12:57861257C>A	uc001snx.3	+	8	1148	c.1054C>A	c.(1054-1056)Cag>Aag	p.Q352K	GLI1_uc021qzi.1_Missense_Mutation_p.Q311K|GLI1_uc009zpq.3_Missense_Mutation_p.Q224K	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	352					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			AGCCAAGCACCAGAATCGGAC	0.547000													75	212					5.14759e-42	5.56176e-42	1	1	0
CWH43	80157	broad.mit.edu	37	4	49032879	49032879	+	Silent	SNP	T	T	G			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr4:49032879T>G	uc003gyv.3	+	10	1592	c.1410T>G	c.(1408-1410)tcT>tcG	p.S470S	CWH43_uc011bzl.2_Silent_p.S443S	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	470					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GTGATGCTTCTAAGCCCTATA	0.403000													34	57					0	0	1	0	0
SLC24A1	9187	broad.mit.edu	37	15	65942809	65942809	+	Silent	SNP	A	A	G			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr15:65942809A>G	uc010ujf.2	+	6	2609	c.2322A>G	c.(2320-2322)ggA>ggG	p.G774G	SLC24A1_uc010ujd.1_Silent_p.G756G|SLC24A1_uc010uje.1_Silent_p.G756G|SLC24A1_uc010ujg.2_Silent_p.G774G|SLC24A1_uc010ujh.2_Silent_p.G756G|SLC24A1_uc010uji.2_Silent_p.G101G	NM_004727	NP_004718	O60721	NCKX1_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 (SLC24A1), transcript variant 1, mRNA.	774					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						agaaaagtggaggtgaaactc	0.463000													60	126					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26761491	26761491	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr22:26761491G>A	uc003acb.3	+	12	2949	c.2753G>A	c.(2752-2754)gGa>gAa	p.G918E	SEZ6L_uc003acd.3_Missense_Mutation_p.G854E|SEZ6L_uc011akd.2_Missense_Mutation_p.G918E|SEZ6L_uc003ace.3_Intron|SEZ6L_uc011akc.2_Missense_Mutation_p.G918E|SEZ6L_uc003acc.3_Missense_Mutation_p.G918E|SEZ6L_uc003acf.1_Missense_Mutation_p.G691E|SEZ6L_uc010gvc.1_Intron|SEZ6L_uc011ake.2_Non-coding_Transcript	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	918	Sushi 5.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TGCATCCTGGGACAGCCATCC	0.582000													38	78					0	0	1	0	0
CD274	29126	broad.mit.edu	37	9	5457410	5457410	+	Silent	SNP	G	G	A			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr9:5457410G>A	uc003zje.3	+	2	492	c.384G>A	c.(382-384)gtG>gtA	p.V128V	PLGRKT_uc003zjd.3_Intron|CD274_uc011lmb.2_Silent_p.V128V|CD274_uc010mhn.3_Non-coding_Transcript|CD274_uc003zjf.3_Intron	NM_014143	NP_054862	Q9NZQ7	PD1L1_HUMAN	Homo sapiens CD274 molecule (CD274), mRNA.	128					T cell costimulation|cell proliferation|cell surface receptor linked signaling pathway|immune response	endomembrane system|integral to membrane	receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111)		GAATTACTGTGAAAGTCAATG	0.398000			T	CIITA	"""PMBL, Hodgkin Lymphona, """								3	71					0	0	1	0	0
PRKG2	5593	broad.mit.edu	37	4	82061797	82061797	+	Silent	SNP	A	A	T			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr4:82061797A>T	uc003hmh.2	-	10	1447	c.1434T>A	c.(1432-1434)gcT>gcA	p.A478A	PRKG2_uc011ccf.1_Silent_p.A58A|PRKG2_uc011ccg.1_Silent_p.A58A|PRKG2_uc011cch.1_Silent_p.A449A	NM_006259	NP_006250	Q13237	KGP2_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.	478	Protein kinase.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TCATAGCAAAAGCAACATTCT	0.353000													32	89					0	0	1	0	0
CYP4F22	126410	broad.mit.edu	37	19	15651480	15651480	+	Silent	SNP	C	C	T			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr19:15651480C>T	uc002nbh.4	+	7	1058	c.891C>T	c.(889-891)gcC>gcT	p.A297A		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 22 (CYP4F22), mRNA.	297						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						GGCTTAAGGCCAAGCAGGGGA	0.652000													17	54					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82815685	82815685	+	Silent	SNP	G	G	A			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr5:82815685G>A	uc003kii.3	+	6	1916	c.1560G>A	c.(1558-1560)ttG>ttA	p.L520L	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Silent_p.L520L|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	520	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AAACACCATTGGTAACTGCAA	0.393000													39	76					0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19338433	19338433	+	Silent	SNP	A	A	C			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr19:19338433A>C	uc002nlz.3	+	7	2103	c.2004A>C	c.(2002-2004)ccA>ccC	p.P668P	NCAN_uc010ecc.1_Silent_p.P232P	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	668					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CCACGGCTCCACCCTCCCCTG	0.617000													6	125					0	0	1	0	0
LILRB3	11025	broad.mit.edu	37	19	54721052	54721052	+	Silent	SNP	G	G	T			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr19:54721052G>T	uc010erh.1	-	13	1981	c.1857C>A	c.(1855-1857)acC>acA	p.T619T	LILRB3_uc002qee.1_Silent_p.T603T|LILRB3_uc002qef.1_Silent_p.T602T|LILRB3_uc002qer.1_Non-coding_Transcript|LILRB3_uc002qes.1_Silent_p.T603T|LILRB3_uc002qeh.1_Silent_p.T602T|LILRB3_uc002qeg.1_Non-coding_Transcript|LILRB3_uc002qei.1_Silent_p.T602T|LILRB3_uc002qek.1_Silent_p.T603T|LILRB3_uc002qej.1_Non-coding_Transcript|LILRB3_uc002qel.1_Silent_p.T602T|LILRB3_uc002qem.1_Non-coding_Transcript|LILRB3_uc002qen.1_Non-coding_Transcript|LILRB3_uc002qeo.1_Silent_p.T603T|LILRB3_uc002qep.1_Silent_p.T603T|LILRB3_uc002qeq.1_Silent_p.T602T	NM_006864	NP_006855	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 (LILRB3), transcript variant 2, mRNA.	602					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCCGTCTAAGGGTCAAGCTGT	0.632000													81	48					8.92586e-32	9.42732e-32	1	1	0
abParts	0	broad.mit.edu	37	14	106352191	106352191	+	Splice_Site	SNP	C	C	G			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr14:106352191C>G	uc021ser.1	-	3889		c.58250_splice	c.e3889-1							Parts of antibodies, mostly variable regions.																		AAATTGCCCCCAAATCACACA	0.547000													5	2					0	0	1	0	0
OSR1	130497	broad.mit.edu	37	2	19552164	19552164	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr2:19552164G>A	uc002rdc.3	-	2	976	c.673C>T	c.(673-675)Cac>Tac	p.H225Y		NM_145260	NP_660303	Q8TAX0	OSR1_HUMAN	Homo sapiens odd-skipped related 1 (Drosophila) (OSR1), mRNA.	225					chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				TCTTTGGAGTGAATATATCTG	0.493000													7	70					0	0	1	0	0
KLHDC9	126823	broad.mit.edu	37	1	161069269	161069269	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr1:161069269G>A	uc001fxr.3	+	1	806	c.661G>A	c.(661-663)Ggg>Agg	p.G221R	KLHDC9_uc001fxq.3_5'UTR|KLHDC9_uc021pbt.1_5'UTR|KLHDC9_uc021pbu.1_3'UTR|KLHDC9_uc001fxs.3_Missense_Mutation_p.G221R	NM_152366	NP_689579	Q8NEP7	KLDC9_HUMAN	Homo sapiens kelch domain containing 9 (KLHDC9), transcript variant 1, mRNA.	221										lung(5)|upper_aerodigestive_tract(1)	6	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			AGAAGTAGCTGGGCATTGGAG	0.498000													49	120					0	0	1	0	0
CARHSP1	23589	broad.mit.edu	37	16	8953055	8953055	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr16:8953055G>A	uc002czh.1	-	1	481	c.131C>T	c.(130-132)cCc>cTc	p.P44L	CARHSP1_uc002czi.1_Missense_Mutation_p.P44L	NM_001042476	NP_055131	Q9Y2V2	CHSP1_HUMAN	Homo sapiens calcium regulated heat stable protein 1, 24kDa (CARHSP1), transcript variant 2, mRNA.	44					intracellular signal transduction|regulation of mRNA stability|regulation of transcription, DNA-dependent	P granule|cytoplasmic mRNA processing body|cytosol	DNA binding|mRNA 3'-UTR binding|phosphatase binding			endometrium(2)|lung(1)	3						CCGGCGAGTGGGCAGTGGGCT	0.652000													34	56					0	0	1	0	0
IGSF3	3321	broad.mit.edu	37	1	117120184	117120184	+	Splice_Site	SNP	C	C	G			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr1:117120184C>G	uc001egq.1	-	12	4100	c.3395_splice	c.e12-1	p.S1132_splice	IGSF3_uc001egr.1_Splice_Site_p.S1112_splice	NM_001542	NP_001533	O75054	IGSF3_HUMAN	Homo sapiens immunoglobulin superfamily, member 3 (IGSF3), transcript variant 1, mRNA.	1112						integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GAGGGTGGGACCTGAAAAGAA	0.493000													27	49					0	0	1	0	0
ZFP57	346171	broad.mit.edu	37	6	29643249	29643249	+	Missense_Mutation	SNP	T	T	C			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr6:29643249T>C	uc011dlw.2	-	2	417	c.266A>G	c.(265-267)cAt>cGt	p.H89R		NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	Homo sapiens zinc finger protein 57 homolog (mouse) (ZFP57), mRNA.	61					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						CTCTGGCTTATGCAGAAAGAT	0.483000													64	94					0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77472613	77472613	+	Silent	SNP	A	A	T			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr15:77472613A>T	uc021sqy.1	-	4	2232	c.1656T>A	c.(1654-1656)acT>acA	p.T552T	PEAK1_uc002bcn.2_Silent_p.T552T|PEAK1_uc021sqz.1_5'UTR	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	Homo sapiens NKF3 kinase family member (PEAK1), mRNA.	552					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										CAGTTCCACTAGTAATTAGTT	0.413000													32	69					0	0	1	0	0
P2RX2	22953	broad.mit.edu	37	12	133197702	133197702	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr12:133197702C>T	uc001ukk.1	+	7	890	c.890C>T	c.(889-891)tCa>tTa	p.S297L	P2RX2_uc001uki.1_Missense_Mutation_p.S297L|P2RX2_uc001ukj.1_Missense_Mutation_p.S297L|P2RX2_uc001ukl.1_Missense_Mutation_p.S273L|P2RX2_uc001ukm.1_Missense_Mutation_p.S225L|P2RX2_uc001ukn.1_Missense_Mutation_p.S205L|P2RX2_uc009zyt.1_Missense_Mutation_p.S297L|P2RX2_uc001uko.1_Missense_Mutation_p.S263L	NM_170683	NP_733783	Q9UBL9	P2RX2_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 2 (P2RX2), transcript variant 4, mRNA.	297					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		CCTGCCTCGTCAGGCTACAAC	0.607000													11	155					0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30970101	30970101	+	Missense_Mutation	SNP	T	T	C			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr16:30970101T>C	uc002ead.1	+	1	735	c.49T>C	c.(49-51)Tgg>Cgg	p.W17R	SETD1A_uc002eae.1_Missense_Mutation_p.W17R	NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	17					regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GAGCTTCCAGTGGCGGAACTA	0.557000													38	87					0	0	1	0	0
PHACTR1	221692	broad.mit.edu	37	6	13283687	13283687	+	Missense_Mutation	SNP	G	G	C			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr6:13283687G>C	uc003nah.2	+	12	1916	c.1543G>C	c.(1543-1545)Gaa>Caa	p.E515Q	PHACTR1_uc010jpc.3_Missense_Mutation_p.E515Q|TBC1D7_uc003naj.3_Intron|TBC1D7_uc011dis.2_Intron|LOC100130357_uc003nak.1_Intron	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	Homo sapiens phosphatase and actin regulator 1 (PHACTR1), transcript variant 1, mRNA.	515						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			AGAGCTTCGGGAAAGAAAGAT	0.597000													34	59					0	0	1	0	0
IP6K2	51447	broad.mit.edu	37	3	48728866	48728866	+	Missense_Mutation	SNP	A	A	G			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr3:48728866A>G	uc003cuq.3	-	3	939	c.478T>C	c.(478-480)Tac>Cac	p.Y160H	IP6K2_uc003cup.3_Missense_Mutation_p.Y160H	NM_016291	NP_057375	Q9UHH9	IP6K2_HUMAN	Homo sapiens inositol hexakisphosphate kinase 2 (IP6K2), transcript variant 1, mRNA.	160					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						ACAGTGTAGTACAAGACTTCA	0.363000													41	74					0	0	1	0	0
KIAA0528	9847	broad.mit.edu	37	12	22646273	22646273	+	Splice_Site	SNP	T	T	A			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr12:22646273T>A	uc010sit.2	-	12	1382	c.1154_splice	c.e12-1	p.D385_splice	KIAA0528_uc010sir.2_Splice_Site_p.D198_splice|KIAA0528_uc010sis.2_Splice_Site_p.D383_splice|KIAA0528_uc001rfq.3_Splice_Site_p.D383_splice|KIAA0528_uc010siu.2_Splice_Site_p.D383_splice|KIAA0528_uc001rfr.3_Splice_Site_p.D374_splice|KIAA0528_uc009ziy.1_Splice_Site_p.D385_splice	NM_014802	NP_055617	Q86YS7	K0528_HUMAN	Homo sapiens KIAA0528 (KIAA0528), mRNA.	383							protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CTGGTTCATCTGAAAAATAAA	0.318000													3	29					0	0	1	0	0
NXPH3	11248	broad.mit.edu	37	17	47656051	47656051	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr17:47656051C>T	uc002ipa.3	+	1	432	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W		NM_007225	NP_009156	O95157	NXPH3_HUMAN	Homo sapiens neurexophilin 3 (NXPH3), mRNA.	50	II.				neuropeptide signaling pathway	extracellular region				endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2)	12	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)					GCCTCGGAAGCGGGGCCACAT	0.677000													73	51					0	0	1	0	0
URB2	9816	broad.mit.edu	37	1	229771821	229771821	+	Silent	SNP	G	G	A			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr1:229771821G>A	uc001hts.1	+	3	1597	c.1461G>A	c.(1459-1461)caG>caA	p.Q487Q	URB2_uc009xfd.1_Silent_p.Q487Q	NM_014777	NP_055592	Q14146	URB2_HUMAN	Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA.	487						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CACTGAGGCAGCCTGTGCTGG	0.582000													44	50					0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25676246	25676246	+	Missense_Mutation	SNP	C	C	G			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr4:25676246C>G	uc003grr.3	+	11	1534	c.1453C>G	c.(1453-1455)Ctc>Gtc	p.L485V	SLC34A2_uc003grs.3_Missense_Mutation_p.L484V|SLC34A2_uc010iev.3_Missense_Mutation_p.L484V	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	485					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GAGGAGTTCACTCCAGGTCAG	0.602000			T	ROS1	NSCLC								68	114					0	0	1	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28305272	28305272	+	Missense_Mutation	SNP	C	C	G			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr21:28305272C>G	uc002ymg.3	-	4	2510	c.1781G>C	c.(1780-1782)tGt>tCt	p.C594S		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 5 (ADAMTS5), mRNA.	594	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						AGGGTTATTACAGTGACGATA	0.567000													48	108					0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118335	118335	+	RNA	SNP	G	G	A			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chrGL000205.1:118335G>A	uc002kgk.4	+	0		c.1713G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GTGGCTCCAGGAGGACTTCTG	0.542000													3	36					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187627969	187627969	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr4:187627969C>T	uc003izf.3	-	1	3201	c.3013G>A	c.(3013-3015)Gac>Aac	p.D1005N	FAT1_uc010iso.1_Missense_Mutation_p.D1005N	NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	1005	Cadherin 8.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTTCCCTTGTCTTTGGCCCTC	0.458000										HNSCC(5;0.00058)			80	150					0	0	1	0	0
WDR91	29062	broad.mit.edu	37	7	134893687	134893687	+	Missense_Mutation	SNP	C	C	A			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr7:134893687C>A	uc003vsp.2	-	2	429	c.367G>T	c.(367-369)Gct>Tct	p.A123S	WDR91_uc010lmr.2_5'Flank|WDR91_uc010lmq.2_5'Flank	NM_014149	NP_054868	A4D1P6	WDR91_HUMAN	Homo sapiens WD repeat domain 91 (WDR91), mRNA.	123										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						TTCCACTCAGCCTGGTTCTGG	0.537000													151	253					1.3708e-80	1.53399e-80	1	1	0
SLC5A10	125206	broad.mit.edu	37	17	18880267	18880267	+	Missense_Mutation	SNP	T	T	A			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr17:18880267T>A	uc002gut.1	+	8	988	c.947T>A	c.(946-948)aTc>aAc	p.I316N	SLC5A10_uc002gur.1_Missense_Mutation_p.I233N|SLC5A10_uc002guu.1_Missense_Mutation_p.I316N|SLC5A10_uc002guv.1_Missense_Mutation_p.I289N|SLC5A10_uc010vyl.1_Missense_Mutation_p.I316N|FAM83G_uc002guw.3_Intron	NM_152351	NP_689564	A0PJK1	SC5AA_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 10 (SLC5A10), transcript variant 1, mRNA.	316					sodium ion transport|transmembrane transport	integral to membrane	transporter activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						GGCCTGATCATCATGCCGGGC	0.637000													64	51					0	0	1	0	0
SLC26A1	10861	broad.mit.edu	37	4	982690	982690	+	Silent	SNP	A	A	G			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr4:982690A>G	uc003gcb.3	-	3	2415	c.2037T>C	c.(2035-2037)agT>agC	p.S679S	SLC26A1_uc003gbx.3_Intron|IDUA_uc003gby.3_Intron|IDUA_uc003gbz.3_Intron|IDUA_uc003gca.3_Intron|SLC26A1_uc003gcc.3_Silent_p.S679S	NM_213613	NP_998778	Q9H2B4	S26A1_HUMAN	Homo sapiens solute carrier family 26 (sulfate transporter), member 1 (SLC26A1), transcript variant 3, mRNA.	679	STAS.					integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CATCGTGCACACTGAGGAACA	0.672000													24	66					0	0	1	0	0
TPRA1	131601	broad.mit.edu	37	3	127292425	127292425	+	Missense_Mutation	SNP	G	G	C			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr3:127292425G>C	uc003ejn.2	-	10	1394	c.1061C>G	c.(1060-1062)cCc>cGc	p.P354R	TPRA1_uc003ejl.2_Missense_Mutation_p.P354R|TPRA1_uc010hsk.2_3'UTR|TPRA1_uc003ejm.3_Non-coding_Transcript	NM_001136053	NP_057456	Q86W33	TPRA1_HUMAN	Homo sapiens transmembrane protein, adipocyte asscociated 1 (TPRA1), transcript variant 1, mRNA.	354					aging|lipid metabolic process	integral to membrane	G-protein coupled receptor activity			endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	9						AGTGTGGCAGGGCATGGAAGC	0.657000													19	37					0	0	1	0	0
PNO1	56902	broad.mit.edu	37	2	68385203	68385203	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr2:68385203G>A	uc002seh.3	+	0	199	c.137G>A	c.(136-138)cGc>cAc	p.R46H	WDR92_uc002sed.1_5'Flank|WDR92_uc002see.1_5'Flank|WDR92_uc002sef.1_5'Flank|WDR92_uc002seg.1_5'Flank	NM_020143	NP_064528	Q9NRX1	PNO1_HUMAN	Homo sapiens partner of NOB1 homolog (S. cerevisiae) (PNO1), mRNA.	46						nucleolus	RNA binding			endometrium(1)|large_intestine(1)|lung(2)	4						GATGCGGGCCGCATGGACACA	0.677000													3	39					0	0	1	0	0
LGALS9B	284194	broad.mit.edu	37	17	20355185	20355185	+	Silent	SNP	G	G	A			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr17:20355185G>A	uc002gxa.1	-	8	749	c.684C>T	c.(682-684)ttC>ttT	p.F228F	LGALS9B_uc002gwz.1_Silent_p.F227F|LGALS9B_uc010vzh.1_Silent_p.F140F	NM_001042685	NP_001036150	Q3B8N2	LEG9B_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 9B (LGALS9B), mRNA.	228	Galectin 2.						sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						TGGTGGTGATGAAAGGCATCG	0.572000													4	108					0	0	1	0	0
PBXIP1	57326	broad.mit.edu	37	1	154920116	154920116	+	Splice_Site	SNP	A	A	C			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr1:154920116A>C	uc001ffr.3	-	8	797	c.738_splice	c.e8+1	p.Q246_splice	PBXIP1_uc001ffs.3_Splice_Site_p.Q217_splice|PBXIP1_uc010pep.2_Splice_Site_p.Q91_splice	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	Homo sapiens pre-B-cell leukemia homeobox interacting protein 1 (PBXIP1), mRNA.	246					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ATTCACACATACCTGCCTGTC	0.622000													4	73					0	0	1	0	0
RANBP10	57610	broad.mit.edu	37	16	67761787	67761787	+	Missense_Mutation	SNP	G	G	T			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr16:67761787G>T	uc002eud.3	-	11	1603	c.1487C>A	c.(1486-1488)cCt>cAt	p.P496H	RANBP10_uc010ceo.3_Missense_Mutation_p.P267H|RANBP10_uc010vju.2_Missense_Mutation_p.P470H|RANBP10_uc010vjv.2_Missense_Mutation_p.P409H|RANBP10_uc010vjw.1_Missense_Mutation_p.P187H	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN	Homo sapiens RAN binding protein 10 (RANBP10), mRNA.	496										endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		CTGCCGCCGAGGATGCCTGTC	0.622000													28	59					3.1745e-13	3.27915e-13	1	1	0
IL4R	3566	broad.mit.edu	37	16	27374134	27374134	+	Silent	SNP	G	G	A			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr16:27374134G>A	uc002don.3	+	10	1703	c.1461G>A	c.(1459-1461)acG>acA	p.T487T	IL4R_uc002dop.4_Silent_p.T472T|IL4R_uc010bxy.3_Silent_p.T487T|IL4R_uc002doo.3_Silent_p.T327T	NM_000418	NP_000409	P24394	IL4RA_HUMAN	Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.	487	Required for IRS1 activation and IL4- induced cell growth.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GCACAGAGACGCCCCTCGTCA	0.642000													32	65					0	0	1	0	0
GRB10	2887	broad.mit.edu	37	7	50742288	50742288	+	Silent	SNP	G	G	A			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr7:50742288G>A	uc003tpi.2	-	2	253	c.207C>T	c.(205-207)gcC>gcT	p.A69A	GRB10_uc003tph.3_Silent_p.A11A|GRB10_uc003tpj.2_Silent_p.A69A|GRB10_uc003tpk.2_Silent_p.A69A|GRB10_uc010kzb.2_Silent_p.A11A|GRB10_uc003tpl.2_Silent_p.A63A|GRB10_uc003tpm.2_Silent_p.A11A	NM_005311	NP_005302	Q13322	GRB10_HUMAN	Homo sapiens growth factor receptor-bound protein 10 (GRB10), transcript variant 1, mRNA.	69					insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					GCATGCTGCAGGCCGAGTACA	0.587000									Russell-Silver syndrome				5	59					0	0	1	0	0
ABHD16A	7920	broad.mit.edu	37	6	31657863	31657863	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr6:31657863C>T	uc003nvy.2	-	10	1028	c.949G>A	c.(949-951)Gga>Aga	p.G317R	ABHD16A_uc003nvx.2_Missense_Mutation_p.G98R|ABHD16A_uc011dny.2_Missense_Mutation_p.G284R|ABHD16A_uc010jtc.2_Missense_Mutation_p.G98R|ABHD16A_uc011dnz.2_Missense_Mutation_p.G98R	NM_021160	NP_066983	O95870	ABHGA_HUMAN	Homo sapiens abhydrolase domain containing 16A (ABHD16A), transcript variant 1, mRNA.	317						integral to membrane	hydrolase activity|protein binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						ACCGTGCTTCCAGCAAAGCCT	0.547000													21	43					0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156824054	156824054	+	Missense_Mutation	SNP	G	G	A	rs140386495		TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr1:156824054G>A	uc010pht.2	-	1	426	c.127C>T	c.(127-129)Cgt>Tgt	p.R43C	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.2_Missense_Mutation_p.R43C	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	43					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCCAGCTGACGAAGCTCTGCC	0.622000													13	41					0	0	1	0	0
MARS2	92935	broad.mit.edu	37	2	198570300	198570300	+	Silent	SNP	G	G	T			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr2:198570300G>T	uc002uuq.3	+	0	273	c.171G>T	c.(169-171)gcG>gcT	p.A57A	BC021693_uc002uup.3_Intron	NM_138395	NP_612404	Q96GW9	SYMM_HUMAN	Homo sapiens methionyl-tRNA synthetase 2, mitochondrial (MARS2), nuclear gene encoding mitochondrial protein, mRNA.	57					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity	p.A57A(2)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	TGAACGCGGCGCCGCACATCG	0.647000													9	79					1.12685e-05	1.13897e-05	1	1	0
PAWR	5074	broad.mit.edu	37	12	80083606	80083606	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr12:80083606G>A	uc001syx.3	-	1	705	c.419C>T	c.(418-420)tCg>tTg	p.S140L		NM_002583	NP_002574	Q96IZ0	PAWR_HUMAN	Homo sapiens PRKC, apoptosis, WT1, regulator (PAWR), mRNA.	140					actin filament bundle assembly|apoptosis|induction of apoptosis|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	actin binding|enzyme binding|leucine zipper domain binding|transcription corepressor activity			NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						ACTGGGGCCCGAGCTCTTGCC	0.706000													3	55					0	0	1	0	0
CAPN12	147968	broad.mit.edu	37	19	39226166	39226166	+	Silent	SNP	G	G	T			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr19:39226166G>T	uc002ojd.1	-	12	1911	c.1602C>A	c.(1600-1602)atC>atA	p.I534I	CAPN12_uc010egd.1_5'Flank|CAPN12_uc002ojc.1_5'UTR	NM_144691	NP_653292	Q6ZSI9	CAN12_HUMAN	Homo sapiens calpain 12 (CAPN12), mRNA.	534	Domain III.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GGTCTGCGCTGATCACGTCGT	0.642000													19	36					7.88262e-20	8.23296e-20	1	1	0
KCNA4	3739	broad.mit.edu	37	11	30034138	30034138	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr11:30034138G>A	uc021qfi.1	-	0	88	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W	KCNA4_uc001msk.3_Missense_Mutation_p.R30W	NM_002233	NP_002224	P22459	KCNA4_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.	30						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						AGCCTCTCCCGCTCCCGGGCC	0.637000													3	6					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616434	77616434	+	Silent	SNP	G	G	A			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr8:77616434G>A	uc003yau.2	+	1	498	c.111G>A	c.(109-111)ggG>ggA	p.G37G	ZFHX4_uc003yat.1_Silent_p.G37G|ZFHX4_uc003yaw.1_Silent_p.G37G	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	37						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAGTTGCAGGGATGGAGCCTG	0.502000										HNSCC(33;0.089)			72	151					0	0	1	0	0
BTNL8	79908	broad.mit.edu	37	5	180338541	180338541	+	Silent	SNP	C	C	T			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr5:180338541C>T	uc003mmp.3	+	2	834	c.600C>T	c.(598-600)aaC>aaT	p.N200N	BTNL8_uc003mmq.3_Silent_p.N200N|BTNL8_uc010jll.3_Silent_p.N200N|BTNL8_uc011dhg.2_Silent_p.N75N|BTNL8_uc010jlm.3_Silent_p.N84N|BTNL8_uc011dhh.2_Silent_p.N16N	NM_001040462	NP_001153182	Q6UX41	BTNL8_HUMAN	Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA.	200	Ig-like V-type 2.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCAAGAGAACGCCGGGAGCA	0.537000													26	55					0	0	1	0	0
IGDCC4	57722	broad.mit.edu	37	15	65684246	65684246	+	Missense_Mutation	SNP	C	C	G			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr15:65684246C>G	uc002aou.1	-	11	2406	c.2196G>C	c.(2194-2196)aaG>aaC	p.K732N	IGDCC4_uc002aot.1_Missense_Mutation_p.K320N	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 4 (IGDCC4), mRNA.	732	Fibronectin type-III 3.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						CCGTCTTGCCCTTCCACACTG	0.612000													29	59					0	0	1	0	0
TNK2	10188	broad.mit.edu	37	3	195615329	195615329	+	Missense_Mutation	SNP	T	T	C			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr3:195615329T>C	uc003fvu.1	-	1	674	c.131A>G	c.(130-132)gAg>gGg	p.E44G	TNK2_uc003fvs.1_Missense_Mutation_p.E76G|TNK2_uc003fvt.1_Missense_Mutation_p.E107G|TNK2_uc010hzw.1_Non-coding_Transcript|TNK2_uc003fvv.1_5'Flank|TNK2_uc010hzx.1_Missense_Mutation_p.E58G	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Homo sapiens tyrosine kinase, non-receptor, 2 (TNK2), transcript variant 1, mRNA.	44	SAM-like domain.				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CTCCAGGTCCTCATTCTTGAC	0.597000													7	190					0	0	1	0	0
HNRNPU	3192	broad.mit.edu	37	1	245018785	245018785	+	Missense_Mutation	SNP	A	A	G			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr1:245018785A>G	uc001iaz.1	-	11	2511	c.2293T>C	c.(2293-2295)Tac>Cac	p.Y765H	HNRNPU_uc001iay.1_Missense_Mutation_p.Y489H|HNRNPU_uc001iba.1_Missense_Mutation_p.Y746H	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) (HNRNPU), transcript variant 1, mRNA.	765	Gly-rich.				CRD-mediated mRNA stabilization	CRD-mediated mRNA stability complex|catalytic step 2 spliceosome|cell surface|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|RNA binding|protein binding			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			CTGTTTGAGTAACTACCACGG	0.512000													37	60					0	0	1	0	0
SCRN2	90507	broad.mit.edu	37	17	45916860	45916860	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr17:45916860G>A	uc002imd.3	-	3	632	c.506C>T	c.(505-507)gCg>gTg	p.A169V	SCRN2_uc002imf.3_Missense_Mutation_p.A169V	NM_138355	NP_612364	Q96FV2	SCRN2_HUMAN	Homo sapiens secernin 2 (SCRN2), transcript variant 1, mRNA.	169					proteolysis		dipeptidase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						CAGCACCCACGCCTCAGTGCG	0.612000													87	89					0	0	1	0	0
CDK10	8558	broad.mit.edu	37	16	89760632	89760632	+	Silent	SNP	C	C	T			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr16:89760632C>T	uc010cio.3	+	8	703	c.660C>T	c.(658-660)atC>atT	p.I220I	CDK10_uc010cip.2_3'UTR|CDK10_uc010vpl.1_3'UTR|CDK10_uc002fob.2_Missense_Mutation_p.S126L|CDK10_uc002fod.3_Silent_p.I149I|CDK10_uc002foe.3_Silent_p.I149I|CDK10_uc002fof.3_Silent_p.I149I|CDK10_uc002fog.4_Silent_p.I149I|CDK10_uc002foh.4_Silent_p.I149I|CDK10_uc002foi.3_5'Flank	NM_052988	NP_001153839	Q15131	CDK10_HUMAN	Homo sapiens cyclin-dependent kinase 10 (CDK10), transcript variant a, mRNA.	220	Protein kinase.				negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		CCACCAGCATCGACATGTGGT	0.632000													49	72					0	0	1	0	0
STXBP5	134957	broad.mit.edu	37	6	147648298	147648298	+	Missense_Mutation	SNP	G	G	C			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr6:147648298G>C	uc003qlz.3	+	17	2141	c.1966G>C	c.(1966-1968)Gac>Cac	p.D656H	STXBP5_uc010khz.2_Missense_Mutation_p.D656H|STXBP5_uc003qly.3_Missense_Mutation_p.D327H|STXBP5_uc003qma.3_Missense_Mutation_p.D3H	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	Homo sapiens syntaxin binding protein 5 (tomosyn) (STXBP5), transcript variant 2, mRNA.	656					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TGCTATGGTTGACTACCTCCA	0.403000													23	40					0	0	1	0	0
DCAF5	8816	broad.mit.edu	37	14	69521317	69521317	+	Missense_Mutation	SNP	T	T	C			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr14:69521317T>C	uc001xkp.3	-	8	2305	c.2086A>G	c.(2086-2088)Acc>Gcc	p.T696A	DCAF5_uc001xkq.3_Missense_Mutation_p.T695A	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 5 (DCAF5), nuclear gene encoding mitochondrial protein, mRNA.	696						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						TTGTGGCTGGTTCCTGCTCTC	0.527000													17	37					0	0	1	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54635905	54635905	+	Missense_Mutation	SNP	A	A	G			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr5:54635905A>G	uc003jpy.4	+	5	849	c.583A>G	c.(583-585)Agt>Ggt	p.S195G	SKIV2L2_uc011cqi.2_Missense_Mutation_p.S94G	NM_015360	NP_056175	P42285	SK2L2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like 2 (S. cerevisiae) (SKIV2L2), mRNA.	195	Helicase ATP-binding.				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TAAGGCTCTGAGTAACCAAAA	0.363000													17	44					0	0	1	0	0
ZMPSTE24	10269	broad.mit.edu	37	1	40724033	40724033	+	Silent	SNP	G	G	C			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr1:40724033G>C	uc001cfg.3	+	0	301	c.90G>C	c.(88-90)gtG>gtC	p.V30V		NM_005857	NP_005848	O75844	FACE1_HUMAN	Homo sapiens zinc metallopeptidase (STE24 homolog, S. cerevisiae) (ZMPSTE24), mRNA.	30						Golgi membrane|endoplasmic reticulum membrane|integral to membrane	metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			CCTGGACAGTGTATCTTTGGG	0.622000													25	54					0	0	1	0	0
MCAM	4162	broad.mit.edu	37	11	119185945	119185945	+	Silent	SNP	C	C	T			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr11:119185945C>T	uc001pwf.3	-	1	125	c.96G>A	c.(94-96)gcG>gcA	p.A32A		NM_006500	NP_006491	P43121	MUC18_HUMAN	Homo sapiens melanoma cell adhesion molecule (MCAM), mRNA.	32	Ig-like V-type 1.				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CCAGCTCAGGCGCAGGCTGCT	0.682000													4	35					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62045585	62045585	+	Silent	SNP	C	C	T			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr17:62045585C>T	uc002jds.1	-	5	911	c.834G>A	c.(832-834)caG>caA	p.Q278Q		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	278					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GCACACACTTCTGCCTCAGGT	0.542000													101	327					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62045582	62045582	+	Silent	SNP	C	C	T			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr17:62045582C>T	uc002jds.1	-	5	914	c.837G>A	c.(835-837)aaG>aaA	p.K279K		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	279					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	AGCGCACACACTTCTGCCTCA	0.547000													103	329					0	0	1	0	0
OPN4	94233	broad.mit.edu	37	10	88419072	88419072	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr10:88419072G>A	uc010qmk.1	+	5	907	c.680G>A	c.(679-681)gGg>gAg	p.G227E	OPN4_uc001kdp.3_Missense_Mutation_p.G227E|OPN4_uc001kdq.3_Missense_Mutation_p.G216E|OPN4_uc009xsx.1_5'Flank	NM_001030015	NP_001025186	Q9UHM6	OPN4_HUMAN	Homo sapiens opsin 4 (OPN4), transcript variant 2, mRNA.	216					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity	p.G227V(4)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						GTGCCCGAGGGGTTGCTGACA	0.612000													26	44					0	0	1	0	0
FOXD4L5	653427	broad.mit.edu	37	9	70177822	70177822	+	Silent	SNP	T	T	C			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr9:70177822T>C	uc010moc.3	-	0	994	c.162A>G	c.(160-162)tcA>tcG	p.S54S		NM_001126334	NP_001119806	Q5VV16	FX4L5_HUMAN	Homo sapiens forkhead box D4-like 5 (FOXD4L5), mRNA.	54					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|lung(2)	7						CCGGCTGGAGTGACTGCTCTA	0.642000													5	182					0	0	1	0	0
API5	8539	broad.mit.edu	37	11	43350300	43350300	+	Silent	SNP	A	A	T			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr11:43350300A>T	uc010rfh.1	+	8	1157	c.984A>T	c.(982-984)ggA>ggT	p.G328G	API5_uc001mxf.2_Silent_p.G328G|API5_uc010rfg.1_Silent_p.G317G|API5_uc010rfi.1_Silent_p.G274G|API5_uc021qgi.1_Silent_p.G155G|API5_uc001mxg.3_Silent_p.G202G	NM_001142930	NP_001136402	Q9BZZ5	API5_HUMAN	Homo sapiens apoptosis inhibitor 5 (API5), transcript variant 1, mRNA.	328					anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						CAGAAAATGGAGAGAATGCTG	0.373000													50	116					0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23411325	23411325	+	Missense_Mutation	SNP	A	A	G			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chrX:23411325A>G	uc004dal.4	+	2	1698	c.1690A>G	c.(1690-1692)Ata>Gta	p.I564V		NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	Homo sapiens patched domain containing 1 (PTCHD1), mRNA.	564					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						ATATGAGTCTATAGAATACTG	0.413000													7	28					0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64428553	64428553	+	Silent	SNP	A	A	T			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr11:64428553A>T	uc021qkw.1	-	9	2319	c.1857T>A	c.(1855-1857)atT>atA	p.I619I	NRXN2_uc021qkx.1_Silent_p.I588I|NRXN2_uc001oas.3_Silent_p.I588I|NRXN2_uc001oaq.3_Silent_p.I286I	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	619	Laminin G-like 3.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CCAGGTCCAGAATCTCGCTGT	0.637000													53	77					0	0	1	0	0
ASB16	92591	broad.mit.edu	37	17	42255640	42255640	+	Missense_Mutation	SNP	C	C	G			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr17:42255640C>G	uc002ifl.1	+	4	1328	c.1244C>G	c.(1243-1245)gCc>gGc	p.A415G	ASB16_uc002ifm.1_Non-coding_Transcript|C17orf65_uc002ifn.3_Intron|C17orf65_uc021tyb.1_5'Flank	NM_080863	NP_543139	Q96NS5	ASB16_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 16 (ASB16), mRNA.	415	SOCS box.				intracellular signal transduction		protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CAGCACCTGGCCCGACTAGCT	0.662000													6	17					0	0	1	0	0
IARS2	55699	broad.mit.edu	37	1	220311360	220311360	+	Missense_Mutation	SNP	A	A	G			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr1:220311360A>G	uc001hmc.3	+	16	2254	c.2150A>G	c.(2149-2151)aAt>aGt	p.N717S		NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN	Homo sapiens isoleucyl-tRNA synthetase 2, mitochondrial (IARS2), nuclear gene encoding mitochondrial protein, mRNA.	717					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	TCCGTGCTCAATGCTGCCAGA	0.408000													6	94					0	0	1	0	0
CAMK2A	815	broad.mit.edu	37	5	149631322	149631322	+	Silent	SNP	G	G	A			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr5:149631322G>A	uc003lru.2	-	8	899	c.684C>T	c.(682-684)ggC>ggT	p.G228G	CAMK2A_uc003lrt.2_Silent_p.G228G|CAMK2A_uc010jhe.2_Silent_p.G208G|CAMK2A_uc010jhf.1_Missense_Mutation_p.A66V	NM_171825	NP_741960	Q9UQM7	KCC2A_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II alpha (CAMK2A), transcript variant 2, mRNA.	228	Protein kinase.				interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATCATAGGCGCCGGCTTTGA	0.587000													36	91					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51171349	51171349	+	Missense_Mutation	SNP	A	A	C			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr16:51171349A>C	uc021tif.1	-	2	3680	c.3358T>G	c.(3358-3360)Ttc>Gtc	p.F1120V	SALL1_uc021tid.1_3'UTR|SALL1_uc021tie.1_3'UTR|SALL1_uc010cbv.3_Missense_Mutation_p.F69V	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	1217					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TCCTTCTGGAACATTTCTGGG	0.562000													22	72					0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43689069	43689069	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr19:43689069C>A	uc002ovu.3	-	1	426	c.295G>T	c.(295-297)Gaa>Taa	p.E99*	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Nonsense_Mutation_p.E99*	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	99	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TATACTGTTTCTCGTCCAGTG	0.438000													72	150					1.74474e-33	1.8637e-33	1	1	0
RAD51AP2	729475	broad.mit.edu	37	2	17692220	17692220	+	Frame_Shift_Del	DEL	T	T	-			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr2:17692220delT	uc002rcl.1	-	2	3355	c.3331delA	c.(3331-3333)agtfs	p.S1111fs	RAD51AP2_uc010exn.1_Frame_Shift_Del_p.S1102fs	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	1111	Interaction with RAD51.									endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGAAAGTGACTACCTAAAAAT	0.313													18	87	---	---	---	---					
MPHOSPH10	10199	broad.mit.edu	37	2	71368372	71368378	+	Frame_Shift_Del	DEL	ATGTAGT	ATGTAGT	-			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr2:71368372_71368378delATGTAGT	uc002sht.2	+	6	1671_1677	c.1319_1325delATGTAGT	c.(1318-1326)gatgtagtafs	p.D440fs		NM_005791	NP_005782	O00566	MPP10_HUMAN	Homo sapiens M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) (MPHOSPH10), mRNA.	440					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						GCTTGGGATGATGTAGTACGTAAAGAA	0.324													16	135	---	---	---	---					
RG9MTD1	54931	broad.mit.edu	37	3	101284160	101284160	+	Frame_Shift_Del	DEL	T	T	-			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr3:101284160delT	uc003duz.3	+	1	683	c.535delT	c.(535-537)tttfs	p.F179fs	RG9MTD1_uc021xbw.1_Frame_Shift_Del_p.F179fs	NM_017819	NP_060289	Q7L0Y3	MRRP1_HUMAN	Homo sapiens RNA (guanine-9-) methyltransferase domain containing 1 (RG9MTD1), nuclear gene encoding mitochondrial protein, mRNA.	179					tRNA processing	mitochondrion	methyltransferase activity|protein binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	16						AAACTTTCTATTTTTACGACT	0.408													18	29	---	---	---	---					
VCAN	1462	broad.mit.edu	37	5	82836607	82836608	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr5:82836607_82836608delAG	uc003kii.3	+	7	8141_8142	c.7785_7786delAG	c.(7783-7788)acagatfs	p.T2595fs	VCAN_uc003kij.3_Frame_Shift_Del_p.T1608fs|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Frame_Shift_Del_p.T1259fs	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	2595	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GAATGCAAACAGATATAGATAC	0.376													8	131	---	---	---	---					
DDX12P	440081	broad.mit.edu	37	12	9573309	9573309	+	RNA	DEL	G	G	-	rs66804813		TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr12:9573309delG	uc021qut.1	-	10		c.2089delC			DDX12P_uc001qvx.4_Intron|DDX12P_uc001qvy.1_5'Flank					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene (DDX12P), non-coding RNA.																		gagggagggagCCCCCATGGA	0.582													29	31	---	---	---	---					
CTAGE5	4253	broad.mit.edu	37	14	39815176	39815179	+	Frame_Shift_Del	DEL	CTGT	CTGT	-			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr14:39815176_39815179delCTGT	uc001wvi.4	+	20	2251_2254	c.1915_1918delCTGT	c.(1915-1920)ctgtctfs	p.L639fs	CTAGE5_uc010tqe.1_Frame_Shift_Del_p.L596fs|CTAGE5_uc001wuy.4_Frame_Shift_Del_p.L554fs|CTAGE5_uc001wuz.4_Frame_Shift_Del_p.L622fs|CTAGE5_uc001wva.4_Frame_Shift_Del_p.L605fs|CTAGE5_uc001wvb.4_Frame_Shift_Del_p.L562fs|CTAGE5_uc001wvc.4_Frame_Shift_Del_p.L536fs|CTAGE5_uc001wvf.4_Frame_Shift_Del_p.L559fs|CTAGE5_uc001wvg.4_Frame_Shift_Del_p.L634fs|CTAGE5_uc001wvh.4_Frame_Shift_Del_p.L591fs|CTAGE5_uc010amz.3_Frame_Shift_Del_p.L250fs|CTAGE5_uc001wvj.4_Frame_Shift_Del_p.L605fs	NM_001247989	NP_001234918	O15320	CTGE5_HUMAN	Homo sapiens CTAGE family, member 5 (CTAGE5), transcript variant 6, mRNA.	634	Pro-rich.						enzyme activator activity|protein binding		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		TTCTGGTAGACTGTCTGGACCAGC	0.353													11	189	---	---	---	---					
EZH1	2145	broad.mit.edu	37	17	40880917	40880920	+	Frame_Shift_Del	DEL	AGTA	AGTA	-			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr17:40880917_40880920delAGTA	uc010wgu.2	-	1	94_97	c.58_61delTACT	c.(58-63)tactggfs	p.Y20fs	EZH1_uc002iaz.3_Frame_Shift_Del_p.Y14fs|EZH1_uc002iba.3_Frame_Shift_Del_p.Y14fs|EZH1_uc010wgt.2_Intron|EZH1_uc010wgv.2_Frame_Shift_Del_p.Y14fs|EZH1_uc010wgw.2_5'UTR|EZH1_uc010cyp.2_5'UTR|EZH1_uc010cyq.2_Frame_Shift_Del_p.Y14fs|EZH1_uc010cys.2_Frame_Shift_Del_p.Y14fs	NM_001991	NP_001982	Q92800	EZH1_HUMAN	Homo sapiens enhancer of zeste homolog 1 (Drosophila) (EZH1), mRNA.	14					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|chromatin binding	p.S21Y(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TTTCTTTTCCAGTAAGTGATACAT	0.373													26	68	---	---	---	---					
ANKLE1	126549	broad.mit.edu	37	19	17397477	17397478	+	Frame_Shift_Ins	INS	-	-	TT	rs13345098		TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr19:17397477_17397478insTT	uc010xpn.1	+	7	2023_2024	c.1909_1910insTT	c.(1909-1911)gtgfs	p.V637fs	ANKLE1_uc010xpm.1_Non-coding_Transcript|ANKLE1_uc002nga.2_3'UTR|ANKLE1_uc010eao.1_3'UTR|ANKLE1_uc002nfy.2_3'UTR|ANKLE1_uc002nfz.2_3'UTR			Q8NAG6	ANKL1_HUMAN	Homo sapiens ankyrin repeat and LEM domain containing 1 (ANKLE1), mRNA.	0						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						gtgtgtgtgtgtgtgtgtgtgt	0.540													17	16	---	---	---	---					
MYPOP	339344	broad.mit.edu	37	19	46394285	46394285	+	Frame_Shift_Del	DEL	G	G	-			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chr19:46394285delG	uc002pdt.3	-	2	883	c.796delC	c.(796-798)cagfs	p.Q266fs		NM_001012643	NP_001012661	Q86VE0	MYPOP_HUMAN	Homo sapiens Myb-related transcription factor, partner of profilin (MYPOP), mRNA.	266	Pro-rich.					nucleus	DNA binding			large_intestine(2)|lung(1)|skin(1)	4						GTCTCCTGCTGGGCCCGCAGG	0.706													7	10	---	---	---	---					
PLS3	5358	broad.mit.edu	37	X	114880464	114880465	+	Frame_Shift_Ins	INS	-	-	A			TCGA-MH-A562-01A-11D-A26P-10	TCGA-MH-A562-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dddea2e4-b8c3-4157-9d92-6de472e8375a	bd8aec5f-0589-436d-9c8e-eaf4e60046e2	g.chrX:114880464_114880465insA	uc004eqe.3	+	11	1469_1470	c.1335_1336insA	c.(1333-1338)gttaatfs	p.V445fs	PLS3_uc010nqg.3_Frame_Shift_Ins_p.V227fs|PLS3_uc004eqd.3_Frame_Shift_Ins_p.V445fs|PLS3_uc011mtf.2_Frame_Shift_Ins_p.V432fs|PLS3_uc011mth.2_Frame_Shift_Ins_p.V400fs|PLS3_uc011mtg.2_Frame_Shift_Ins_p.V418fs|PLS3_uc011mti.2_Frame_Shift_Ins_p.V121fs|PLS3_uc011mtj.2_Frame_Shift_Ins_p.V39fs|PLS3_uc011mtl.2_Non-coding_Transcript	NM_001136025	NP_005023	P13797	PLST_HUMAN	Homo sapiens plastin 3 (PLS3), transcript variant 2, mRNA.	445	Actin-binding 2.|CH 3.					cytoplasm	actin binding|calcium ion binding			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						GGAGTAAGGTTAATAAACCTCC	0.322													92	49	---	---	---	---					
