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
GPR21	2844	broad.mit.edu	37	9	125797765	125797765	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr9:125797765C>T	ENST00000373642.1	+	1	960	c.920C>T	c.(919-921)tCc>tTc	p.S307F	RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000493854.1_Intron|RABGAP1_ENST00000373647.4_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	307						integral to plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						TATAGTCTCTCCAACAGTGTA	0.473000													58	327					0	0	1	0	0
ACKR6	0	broad.mit.edu	37	17	6364736	6364736	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr17:6364736G>A	ENST00000262483.8	-	18	2534	c.2447C>T	c.(2446-2448)cCg>cTg	p.P816L	ACKR6_ENST00000421306.3_Missense_Mutation_p.P780L|ACKR6_ENST00000576664.1_5'UTR	NM_031220.3	NP_112497.2																					CTGCCGCAGCGGGTCATGCAC	0.637000													36	535					0	0	1	0	0
EN1	2019	broad.mit.edu	37	2	119600717	119600717	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr2:119600717G>A	ENST00000295206.6	-	2	1486	c.976C>T	c.(976-978)Cgc>Tgc	p.R326C		NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	326					skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						GTGATGTAGCGGTTTGCCTGG	0.597000													11	119					0	0	1	0	0
C19orf40	91442	broad.mit.edu	37	19	33467438	33467438	+	Silent	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr19:33467438C>T	ENST00000588258.1	+	5	608	c.498C>T	c.(496-498)atC>atT	p.I166I	C19orf40_ENST00000589646.1_Silent_p.I71I|C19orf40_ENST00000590281.1_Silent_p.I166I|C19orf40_ENST00000590179.1_Silent_p.I71I	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN	chromosome 19 open reading frame 40	166	RuvA domain 2-like.				DNA repair	Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					TGCAGCAGATCCCAGGAGTTG	0.532000								Direct reversal of damage			OREG0025408	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	94	583					0	0	1	0	0
CRB2	286204	broad.mit.edu	37	9	126133673	126133673	+	Missense_Mutation	SNP	T	T	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr9:126133673T>A	ENST00000373631.3	+	8	2253	c.2252T>A	c.(2251-2253)cTc>cAc	p.L751H	CRB2_ENST00000359999.3_Missense_Mutation_p.L751H|CRB2_ENST00000373629.2_Missense_Mutation_p.L419H	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	751	Laminin G-like 2.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GGTGGGAGGCTCCTTGCTGCC	0.682000													45	443					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25924728	25924728	+	Silent	SNP	G	G	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr15:25924728G>T	ENST00000356865.6	-	21	4371	c.4260C>A	c.(4258-4260)acC>acA	p.T1420T		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1420					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TCACCCTGCCGGTGCTGGCAG	0.642000													56	266					6.56871e-35	7.05693e-35	1	1	0
MCM10	55388	broad.mit.edu	37	10	13234464	13234464	+	Silent	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr10:13234464C>T	ENST00000378694.1	+	12	1716	c.1641C>T	c.(1639-1641)agC>agT	p.S547S	MCM10_ENST00000378714.3_Silent_p.S547S|MCM10_ENST00000484800.2_Silent_p.S548S			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	548					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						TTATGGGGAGCCCAAAACCAG	0.542000													29	322					0	0	1	0	0
DPPA4	55211	broad.mit.edu	37	3	109050853	109050853	+	Silent	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr3:109050853C>T	ENST00000335658.6	-	3	258	c.204G>A	c.(202-204)gaG>gaA	p.E68E	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	68						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TGTCAGTGTGCTCTGCCTTTT	0.423000													47	562					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117662844	117662844	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr12:117662844C>T	ENST00000317775.6	-	25	4488	c.3803G>A	c.(3802-3804)cGg>cAg	p.R1268Q	NOS1_ENST00000338101.4_Missense_Mutation_p.R1302Q|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1268					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	ATCAAATTGCCGCTGTTGCCA	0.607000													116	1115					0	0	1	0	0
OR2H2	7932	broad.mit.edu	37	6	29555744	29555744	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr6:29555744C>T	ENST00000383640.2	+	1	62	c.23C>T	c.(22-24)cCg>cTg	p.P8L	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	8					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						AGCTCCACACCGGGCTTCCTC	0.522000													6	509					0	0	1	0	0
DMRT3	58524	broad.mit.edu	37	9	990482	990482	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr9:990482C>T	ENST00000190165.2	+	2	934	c.896C>T	c.(895-897)tCc>tTc	p.S299F		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	299					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		GAGCGAACTTCCGCAGAACCT	0.577000													25	350					0	0	1	0	0
OR2L2	26246	broad.mit.edu	37	1	248201829	248201829	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr1:248201829G>A	ENST00000366479.2	+	1	356	c.260G>A	c.(259-261)gGa>gAa	p.G87E	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			tttctgtatggaaacaagtct	0.418000													81	897					0	0	1	0	0
SPTLC3	55304	broad.mit.edu	37	20	13098235	13098235	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr20:13098235C>T	ENST00000399002.2	+	8	1289	c.1015C>T	c.(1015-1017)Cac>Tac	p.H339Y	SPTLC3_ENST00000378194.4_Intron	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	339					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	AGATGAAGCTCACAGTATTGG	0.507000													52	762					0	0	1	0	0
OPN1LW	5956	broad.mit.edu	37	X	153416268	153416268	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chrX:153416268C>T	ENST00000369951.4	+	2	313	c.253C>T	c.(253-255)Cgc>Tgc	p.R85C	OPN1LW_ENST00000463296.1_3'UTR	NM_020061.4	NP_064445.1	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	85					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAAGAAGCTGCGCCACCCGCT	0.562000													21	333					0	0	1	0	0
SNRPB	6628	broad.mit.edu	37	20	2442419	2442419	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr20:2442419G>A	ENST00000438552.2	-	7	868	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C	SNRPB_ENST00000381342.2_3'UTR	NM_198216.1	NP_937859.1	P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptides B and B1	236	Repeat-rich region.				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						CTTGGTGGGCGCATTCCCGGG	0.547000													5	393					0	0	1	0	0
EPS8	0	broad.mit.edu	37	12	15818756	15818756	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr12:15818756C>T	ENST00000281172.5	-	8	1106	c.670G>A	c.(670-672)Gtc>Atc	p.V224I	EPS8_ENST00000543612.1_Missense_Mutation_p.V224I|EPS8_ENST00000543523.1_Missense_Mutation_p.V224I	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	224					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		ACCTGGGTGACGGTCCCAGGG	0.502000													6	397					0	0	1	0	0
TPTE2P6	0	broad.mit.edu	37	13	25168432	25168432	+	RNA	SNP	T	T	C	rs149337771	by1000genomes	TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr13:25168432T>C	ENST00000453498.1	+	0	1104																											TTGAAACAGCTGGTGTATTAA	0.373000													3	91					0	0	1	0	0
GABRB2	0	broad.mit.edu	37	5	160886675	160886675	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr5:160886675C>T	ENST00000274547.2	-	5	630	c.413G>A	c.(412-414)cGc>cAc	p.R138H	GABRB2_ENST00000393959.1_Missense_Mutation_p.R138H|GABRB2_ENST00000353437.6_Missense_Mutation_p.R138H|GABRB2_ENST00000520240.1_Missense_Mutation_p.R138H|GABRB2_ENST00000517901.1_Missense_Mutation_p.R75H|GABRB2_ENST00000517547.1_Intron	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	138					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GCGAATCATGCGGTTCTTAAC	0.448000													4	153					0	0	1	0	0
HOXA7	3204	broad.mit.edu	37	7	27196029	27196029	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr7:27196029C>T	ENST00000242159.3	-	1	269	c.136G>A	c.(136-138)Gcc>Acc	p.A46T		NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	46					angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding	p.A46P(2)		endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						GAGGCGAAGGCGCCGGCGCCC	0.622000													120	434					0	0	1	0	0
C16orf46	123775	broad.mit.edu	37	16	81095234	81095234	+	Silent	SNP	C	C	G			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr16:81095234C>G	ENST00000378611.4	-	3	835	c.720G>C	c.(718-720)gtG>gtC	p.V240V	C16orf46_ENST00000299578.5_Silent_p.V240V|RP11-303E16.8_ENST00000564536.1_RNA	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	240										NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						CCACATCCAGCACCTTCTCTT	0.473000													68	809					0	0	1	0	0
PFKFB4	5210	broad.mit.edu	37	3	48587623	48587623	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr3:48587623G>A	ENST00000232375.3	-	2	254	c.142C>T	c.(142-144)Ccc>Tcc	p.P48S	PFKFB4_ENST00000383734.2_Missense_Mutation_p.P48S|PFKFB4_ENST00000545984.1_Missense_Mutation_p.P48S|PFKFB4_ENST00000416568.1_Missense_Mutation_p.P48S|PFKFB4_ENST00000541519.1_Missense_Mutation_p.P14S|PFKFB4_ENST00000536104.1_Missense_Mutation_p.P37S|PFKFB4_ENST00000490115.1_5'UTR	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	48	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		CCCCTGGCGGGCAGGCCCACC	0.597000													5	276					0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131621519	131621519	+	Splice_Site	SNP	G	G	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr12:131621519G>T	ENST00000261654.5	+	23	2955	c.2394_splice	c.e23-1	p.G799_splice	GPR133_ENST00000535015.1_Splice_Site_p.G831_splice|GPR133_ENST00000376682.4_Splice_Site_p.G485_splice|GPR133_ENST00000543617.1_Splice_Site_p.G318_splice|GPR133_ENST00000540207.1_3'UTR	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	799					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TCTTCCCAGGGACTGTTCATA	0.532000													13	274					7.07758e-08	7.35513e-08	1	1	0
PCIF1	63935	broad.mit.edu	37	20	44574946	44574946	+	Silent	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr20:44574946C>T	ENST00000372409.3	+	14	1900	c.1536C>T	c.(1534-1536)ttC>ttT	p.F512F	PCIF1_ENST00000479348.1_3'UTR	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	512						nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						TCGAGTGCTTCGCCTCACCCC	0.642000													48	670					0	0	1	0	0
POLR3B	55703	broad.mit.edu	37	12	106820987	106820987	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr12:106820987C>T	ENST00000228347.4	+	13	1336	c.1114C>T	c.(1114-1116)Ctt>Ttt	p.L372F	POLR3B_ENST00000539066.1_Missense_Mutation_p.L314F|POLR3B_ENST00000549195.1_3'UTR	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	372					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.L372F(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTATCTCTTCTTTTTGAAGA	0.274000													14	80					0	0	1	0	0
ARMC5	79798	broad.mit.edu	37	16	31474214	31474214	+	Missense_Mutation	SNP	A	A	G			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr16:31474214A>G	ENST00000457010.2	+	3	2047	c.1346A>G	c.(1345-1347)cAg>cGg	p.Q449R	ARMC5_ENST00000538189.1_Missense_Mutation_p.Q481R|ARMC5_ENST00000563544.1_Missense_Mutation_p.Q449R|ARMC5_ENST00000408912.3_Missense_Mutation_p.Q544R|ARMC5_ENST00000412665.2_Missense_Mutation_p.Q93R|ARMC5_ENST00000268314.4_Missense_Mutation_p.Q449R	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	449							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GAGCGGGCACAGGGTGGAAGC	0.607000													3	101					0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68612671	68612671	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr15:68612671G>A	ENST00000423218.2	-	20	2563	c.2468C>T	c.(2467-2469)tCc>tTc	p.S823F	ITGA11_ENST00000315757.7_Missense_Mutation_p.S823F			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	823					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	GGTGTCGAAGGACAGCGTGTA	0.592000													11	88					0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169586589	169586589	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr1:169586589C>T	ENST00000263686.6	-	3	195	c.158G>A	c.(157-159)tGg>tAg	p.W53*	SELP_ENST00000367788.2_Nonsense_Mutation_p.W53*|SELP_ENST00000458599.2_Nonsense_Mutation_p.W53*|SELP_ENST00000367791.2_Nonsense_Mutation_p.W53*|SELP_ENST00000367794.2_Nonsense_Mutation_p.W53*|SELP_ENST00000367786.2_Nonsense_Mutation_p.W53*|SELP_ENST00000367792.2_Nonsense_Mutation_p.W53*|SELP_ENST00000367793.2_Nonsense_Mutation_p.W53*	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	53					platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GGAAATATTCCATGAGTATGC	0.413000													48	615					0	0	1	0	0
GALNS	2588	broad.mit.edu	37	16	88908313	88908313	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr16:88908313G>A	ENST00000268695.5	-	3	399	c.311C>T	c.(310-312)gCc>gTc	p.A104V	GALNS_ENST00000565364.1_5'UTR|GALNS_ENST00000542788.1_Intron	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfate sulfatase	104						lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)	ACCGTTTCTGGCATGGGCGTT	0.632000													3	89					0	0	1	0	0
PYHIN1	149628	broad.mit.edu	37	1	158908939	158908939	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr1:158908939C>T	ENST00000368140.1	+	4	726	c.481C>T	c.(481-483)Cct>Tct	p.P161S	PYHIN1_ENST00000368135.4_Missense_Mutation_p.P161S|PYHIN1_ENST00000392252.3_Missense_Mutation_p.P152S|PYHIN1_ENST00000368138.3_Missense_Mutation_p.P152S|PYHIN1_ENST00000392254.2_Missense_Mutation_p.P161S	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	161					cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					GCAGACTCGGCCTTCCTGCTC	0.483000													45	273					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23910739	23910739	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr13:23910739G>A	ENST00000382298.3	-	10	7864	c.7276C>T	c.(7276-7278)Cga>Tga	p.R2426*	SACS_ENST00000402364.1_Nonsense_Mutation_p.R1676*|SACS_ENST00000382292.3_Nonsense_Mutation_p.R2426*	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2426					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CTGATTATTCGTCGGCAAAGC	0.333000													51	183					0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8214499	8214499	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr4:8214499C>T	ENST00000539824.1	+	4	465	c.91C>T	c.(91-93)Cgg>Tgg	p.R31W	SH3TC1_ENST00000245105.3_Missense_Mutation_p.R107W			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	107							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GCAGACCCTCCGGGGCCAGCT	0.677000													14	121					0	0	1	0	0
PARVB	29780	broad.mit.edu	37	22	44559756	44559756	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr22:44559756G>A	ENST00000338758.6	+	12	1027	c.964G>A	c.(964-966)Gcc>Acc	p.A322T	PARVB_ENST00000406477.3_Missense_Mutation_p.A355T|PARVB_ENST00000404989.1_Missense_Mutation_p.A285T	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	322	CH 2.				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding	p.A355T(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				TGTGTCCTTCGCCTTTGAGCT	0.627000													30	321					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207787753	207787753	+	Nonsense_Mutation	SNP	C	C	T	rs55749440		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr1:207787753C>T	ENST00000367049.4	+	40	6580	c.6580C>T	c.(6580-6582)Cga>Tga	p.R2194*	CR1_ENST00000400960.2_Nonsense_Mutation_p.R1744*|CR1_ENST00000367053.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367052.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367051.1_Nonsense_Mutation_p.R1744*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1744					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	p.R1749*(9)|p.R2194*(9)|p.R1744*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTTTAGGTTCCGATTAAAAGG	0.423000													4	184					0	0	1	0	0
GGA2	23062	broad.mit.edu	37	16	23480293	23480293	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr16:23480293C>T	ENST00000309859.4	-	16	1727	c.1645G>A	c.(1645-1647)Gca>Aca	p.A549T	GGA2_ENST00000567468.1_Intron	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	549	GAE.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		GAGCTGGATGCCGGCTGCAGC	0.493000													5	273					0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93836096	93836096	+	Silent	SNP	T	T	C			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr11:93836096T>C	ENST00000315765.9	+	15	2600	c.2592T>C	c.(2590-2592)taT>taC	p.Y864Y		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	864	Plastocyanin-like 5.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TAAAAACTTATAGATGGAATA	0.328000													20	197					0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57088170	57088170	+	Missense_Mutation	SNP	T	T	G			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr11:57088170T>G	ENST00000532437.1	-	2	422	c.111A>C	c.(109-111)aaA>aaC	p.K37N	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.K37N			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	37	Arg/Glu/Lys/Pro-rich (charged).				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TGACAGGGGGTTTGGCCCGAG	0.622000													4	123					0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156135406	156135406	+	Silent	SNP	G	G	A	rs148709959	byFrequency	TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr4:156135406G>A	ENST00000329476.3	+	2	804	c.315G>A	c.(313-315)ccG>ccA	p.P105P	NPY2R_ENST00000506608.1_Silent_p.P105P	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	105					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				TGTGTCTACCGTTCACTCTTA	0.493000													21	246					0	0	1	0	0
PLCD3	113026	broad.mit.edu	37	17	43194110	43194110	+	Silent	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr17:43194110G>A	ENST00000322765.5	-	8	1415	c.1302C>T	c.(1300-1302)tgC>tgT	p.C434C	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	434	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.C434C(2)		breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17					Phosphatidylserine(DB00144)	GCTCCAGCCCGCAGTGGTTCT	0.647000													24	270					0	0	1	0	0
GFRA2	2675	broad.mit.edu	37	8	21560393	21560393	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr8:21560393G>A	ENST00000524240.1	-	7	1792	c.1142C>T	c.(1141-1143)aCg>aTg	p.T381M	GFRA2_ENST00000518077.1_Missense_Mutation_p.T248M|GFRA2_ENST00000400782.4_Missense_Mutation_p.T276M|GFRA2_ENST00000517328.1_Missense_Mutation_p.T381M	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2	381						anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		CAAAGAAGGCGTCTTCTCCAC	0.627000													17	76					0	0	1	0	0
DMRT3	58524	broad.mit.edu	37	9	990182	990182	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr9:990182C>T	ENST00000190165.2	+	2	634	c.596C>T	c.(595-597)tCc>tTc	p.S199F		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	199					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		GAGATAGTGTCCGTGGAGGAA	0.562000													27	326					0	0	1	0	0
CYP11A1	1583	broad.mit.edu	37	15	74636146	74636146	+	Silent	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr15:74636146G>A	ENST00000358632.4	-	4	1034	c.339C>T	c.(337-339)gaC>gaT	p.D113D	CYP11A1_ENST00000419019.2_Silent_p.D113D|CYP11A1_ENST00000541301.1_3'UTR|CYP11A1_ENST00000268053.6_Silent_p.D271D	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	271					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	TGAAAATCACGTCCCATGCAG	0.592000													177	860					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38592495	38592495	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr3:38592495C>T	ENST00000413689.1	-	28	5561	c.5368G>A	c.(5368-5370)Gac>Aac	p.D1790N	SCN5A_ENST00000455624.2_Missense_Mutation_p.D1757N|SCN5A_ENST00000451551.2_Missense_Mutation_p.D1736N|SCN5A_ENST00000450102.2_Missense_Mutation_p.D1736N|SCN5A_ENST00000449557.2_Missense_Mutation_p.D1736N|SCN5A_ENST00000443581.1_Missense_Mutation_p.D1789N|SCN5A_ENST00000425664.1_Missense_Mutation_p.D1772N|SCN5A_ENST00000423572.2_Missense_Mutation_p.D1789N|SCN5A_ENST00000414099.2_Missense_Mutation_p.D1772N|SCN5A_ENST00000333535.4_Missense_Mutation_p.D1790N	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1790			D -> G (in LQT3).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	ATATCGAAGTCGTCCTCACTC	0.512000													31	285					0	0	1	0	0
KLK4	9622	broad.mit.edu	37	19	51411614	51411614	+	Splice_Site	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr19:51411614C>T	ENST00000324041.1	-	4	612		c.e4+1		KLK4_ENST00000431178.2_Intron	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4						proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		CCCTCTCTCACGTTGCAGGAG	0.622000													47	520					0	0	1	0	0
MMP3	4314	broad.mit.edu	37	11	102706890	102706890	+	Missense_Mutation	SNP	G	G	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr11:102706890G>T	ENST00000299855.5	-	10	1657	c.1401C>A	c.(1399-1401)caC>caA	p.H467Q	WTAPP1_ENST00000525739.2_RNA	NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	467	Hemopexin-like 4.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	TCTTCAAAGTGTGTGTCACTT	0.358000													60	433					9.61844e-40	1.04036e-39	1	1	0
FRMD7	90167	broad.mit.edu	37	X	131212649	131212649	+	Missense_Mutation	SNP	T	T	G			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chrX:131212649T>G	ENST00000298542.4	-	12	1571	c.1396A>C	c.(1396-1398)Aaa>Caa	p.K466Q	FRMD7_ENST00000370879.1_Missense_Mutation_p.K346Q|FRMD7_ENST00000464296.1_Missense_Mutation_p.K451Q	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	466					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					GGACGCACTTTGCTTGTGAGG	0.438000													85	1055					0	0	1	0	0
TES	26136	broad.mit.edu	37	7	115891866	115891866	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr7:115891866C>T	ENST00000358204.4	+	5	970	c.755C>T	c.(754-756)gCc>gTc	p.A252V	TES_ENST00000393481.2_Missense_Mutation_p.A243V|AC002066.1_ENST00000446355.2_RNA|AC073130.3_ENST00000444244.1_RNA|TES_ENST00000537767.1_Missense_Mutation_p.A10V	NM_015641.3	NP_056456.1	Q9UGI8	TES_HUMAN	testis derived transcript (3 LIM domains)	252	LIM zinc-binding 1.				negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			GCCATCTATGCCGAAAGGGCT	0.463000													87	596					0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184104344	184104344	+	Missense_Mutation	SNP	T	T	G			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr3:184104344T>G	ENST00000204604.1	+	16	2243	c.1997T>G	c.(1996-1998)gTg>gGg	p.V666G	EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Intron|CHRD_ENST00000348986.3_Missense_Mutation_p.V626G|CHRD_ENST00000450923.1_Missense_Mutation_p.V666G	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	666					BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCGAGGGGGTGCGGGCGCTG	0.726000													7	31					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22156518	22156518	+	Missense_Mutation	SNP	G	G	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr19:22156518G>T	ENST00000397126.4	-	4	1466	c.1318C>A	c.(1318-1320)Ctt>Att	p.L440I	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGTTCCATAAGGTTTGAGGAC	0.378000													35	392					6.90743e-12	7.22553e-12	1	1	0
CDKL4	344387	broad.mit.edu	37	2	39440588	39440588	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr2:39440588C>T	ENST00000378803.1	-	3	315	c.316G>A	c.(316-318)Gta>Ata	p.V106I	CDKL4_ENST00000395035.3_Missense_Mutation_p.V106I	NM_001009565.1	NP_001009565.1	Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	106	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				TGCCATAATACGCTTTTGATC	0.338000													20	378					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51173233	51173233	+	Missense_Mutation	SNP	C	C	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr16:51173233C>A	ENST00000440970.1	-	2	3040	c.2609G>T	c.(2608-2610)gGt>gTt	p.G870V	SALL1_ENST00000251020.4_Missense_Mutation_p.G967V|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	967					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 transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA 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)			CAAAGCCCCACCATTCACTGG	0.483000													40	200					5.71845e-15	6.02141e-15	1	1	0
CADM3	57863	broad.mit.edu	37	1	159169659	159169659	+	Silent	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr1:159169659G>A	ENST00000368125.4	+	8	1228	c.1071G>A	c.(1069-1071)cgG>cgA	p.R357R	CADM3_ENST00000368124.4_Silent_p.R391R|CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000497636.1_3'UTR	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	357					adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	p.R391R(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					ACTTGATCCGGCACAAAGGTC	0.562000													5	180					0	0	1	0	0
PCDHGA11	0	broad.mit.edu	37	5	140801533	140801533	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr5:140801533G>A	ENST00000398587.2	+	1	772	c.739G>A	c.(739-741)Gta>Ata	p.V247I	PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.V247I|PCDHGA2_ENST00000394576.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1														breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACACAGTCCGTATATCGCGT	0.502000													6	580					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106899195	106899195	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr10:106899195G>A	ENST00000369701.3	+	8	1480	c.1253G>A	c.(1252-1254)cGa>cAa	p.R418Q		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	418						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GTGTCTTATCGAAGAGAGGCC	0.502000													44	473					0	0	1	0	0
TIMD4	91937	broad.mit.edu	37	5	156378788	156378788	+	Silent	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr5:156378788C>T	ENST00000274532.2	-	3	470	c.414G>A	c.(412-414)acG>acA	p.T138T	TIMD4_ENST00000407087.3_Silent_p.T138T	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	138	Thr-rich.					integral to membrane		p.T138T(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGTTCTGTGCGTGGTTGTTG	0.493000													79	1059					0	0	1	0	0
BMP3	651	broad.mit.edu	37	4	81967430	81967430	+	Silent	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr4:81967430G>A	ENST00000282701.2	+	2	1175	c.855G>A	c.(853-855)cgG>cgA	p.R285R		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	285					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						CCATTGAGCGGAGGAAGAAGC	0.512000													32	353					0	0	1	0	0
KCNN2	3781	broad.mit.edu	37	5	113698895	113698895	+	Silent	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr5:113698895C>T	ENST00000512097.3	+	2	1441	c.423C>T	c.(421-423)ttC>ttT	p.F141F	KCNN2_ENST00000264773.3_Silent_p.F141F|KCNN2_ENST00000507750.1_3'UTR			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	141						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		CGCTCATCTTCGGCATGTTCG	0.602000													13	208					0	0	1	0	0
SYT16	83851	broad.mit.edu	37	14	62541981	62541981	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr14:62541981G>A	ENST00000430451.2	+	3	1062	c.865G>A	c.(865-867)Gag>Aag	p.E289K	SYT16_ENST00000446982.2_Missense_Mutation_p.E289K|RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	289										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		ATCTCACCAAGAGTCCAGTGT	0.527000													13	227					0	0	1	0	0
WDR63	126820	broad.mit.edu	37	1	85561704	85561704	+	Splice_Site	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr1:85561704G>A	ENST00000294664.6	+	11	1443		c.e11+1		WDR63_ENST00000326813.8_Splice_Site|WDR63_ENST00000370596.1_Splice_Site	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63											NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		CAATGGGCAGGTACTTAACAG	0.388000													25	434					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76455227	76455227	+	Silent	SNP	G	G	A	rs139000751	byFrequency	TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr17:76455227G>A	ENST00000389840.5	-	61	9799	c.9675C>T	c.(9673-9675)gcC>gcT	p.A3225A	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Silent_p.A3234A					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGCACAGGCCGGCGGCGGCCG	0.652000													105	1145					0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6557092	6557092	+	Silent	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr10:6557092C>T	ENST00000263125.5	-	2	105	c.6G>A	c.(4-6)tcG>tcA	p.S2S	PRKCQ_ENST00000539722.1_5'UTR|PRKCQ_ENST00000397176.2_Silent_p.S2S	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	2					axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						GAAGAAATGGCGACATGGTTG	0.478000													21	244					0	0	1	0	0
EXOG	9941	broad.mit.edu	37	3	38537984	38537984	+	Missense_Mutation	SNP	G	G	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr3:38537984G>T	ENST00000287675.5	+	1	222	c.126G>T	c.(124-126)caG>caT	p.Q42H	EXOG_ENST00000422077.2_Missense_Mutation_p.Q42H|EXOG_ENST00000358249.2_5'UTR	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	42						mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding			central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						TCCGGAGTCAGGGCGCTGAGG	0.672000											OREG0015479	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	459					0.00198382	0.00199637	1	1	0
P4HA1	5033	broad.mit.edu	37	10	74770789	74770789	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr10:74770789C>T	ENST00000412021.2	-	14	1708	c.1375G>A	c.(1375-1377)Gat>Aat	p.D459N	P4HA1_ENST00000307116.2_Missense_Mutation_p.D459N|P4HA1_ENST00000263556.3_Missense_Mutation_p.D459N|P4HA1_ENST00000373008.2_Missense_Mutation_p.D459N|P4HA1_ENST00000394890.2_Missense_Mutation_p.D459N|P4HA1_ENST00000440381.1_Missense_Mutation_p.D441N	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	459	Fe2OG dioxygenase.					endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GCAGACACATCACTCATCTAT	0.353000													30	387					0	0	1	0	0
TERT	0	broad.mit.edu	37	5	1294328	1294328	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr5:1294328C>T	ENST00000310581.5	-	2	730	c.673G>A	c.(673-675)Ggg>Agg	p.G225R	TERT_ENST00000296820.5_Missense_Mutation_p.G225R|TERT_ENST00000508104.2_Missense_Mutation_p.G225R|TERT_ENST00000334602.6_Missense_Mutation_p.G225R	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	225	RNA-interacting domain 1.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GCACTGCCCCCGCGCCTCCTC	0.746000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				7	65					0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142218556	142218556	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr3:142218556C>A	ENST00000350721.4	-	31	5414	c.5293G>T	c.(5293-5295)Gag>Tag	p.E1765*	ATR_ENST00000383101.3_Nonsense_Mutation_p.E1701*	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1765	FAT.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TCTGTCCACTCGGACCTATTA	0.328000								Other conserved DNA damage response genes					48	361					6.68952e-21	7.09089e-21	1	1	0
MT-ND5	4540	broad.mit.edu	37	MT	13063	13063	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chrM:13063G>A	ENST00000361567.2	+	1	727	c.727G>A	c.(727-729)Gtc>Atc	p.V243I				P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	243					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74					NADH(DB00157)	GCCCCACCCCAGTCTCAGCCC	0.547000													6	7					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11561569	11561569	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr1:11561569G>A	ENST00000294484.6	+	2	658	c.520G>A	c.(520-522)Gtc>Atc	p.V174I	PTCHD2_ENST00000389575.3_Missense_Mutation_p.V174I	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	174					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	p.V391I(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		AGCCCCCCGCGTCATCCCCGC	0.682000													11	126					0	0	1	0	0
PF4V1	5197	broad.mit.edu	37	4	74719545	74719545	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr4:74719545C>T	ENST00000226524.3	+	2	320	c.146C>T	c.(145-147)aCc>aTc	p.T49I		NM_002620.2	NP_002611.1	P10720	PF4V_HUMAN	platelet factor 4 variant 1	49					immune response	extracellular region	chemokine activity|heparin binding			endometrium(1)|liver(2)	3	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TGTGTGAAGACCACCTCCCAG	0.612000													13	83					0	0	1	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685629	125685629	+	Silent	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chrX:125685629G>A	ENST00000371126.1	-	1	1205	c.963C>T	c.(961-963)taC>taT	p.Y321Y		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	321								p.Y321Y(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						AGCCCACGGCGTACACAGACA	0.597000													5	375					0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76751711	76751711	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr6:76751711C>T	ENST00000369950.3	-	2	389	c.200G>A	c.(199-201)cGa>cAa	p.R67Q	IMPG1_ENST00000369963.3_Intron	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	67					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TCTTTTTGTTCGATGCTTTGC	0.363000													35	459					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123164205	123164205	+	Missense_Mutation	SNP	T	T	G			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr4:123164205T>G	ENST00000264501.4	+	30	5097	c.4724T>G	c.(4723-4725)cTt>cGt	p.L1575R	KIAA1109_ENST00000455637.1_Missense_Mutation_p.L1575R|KIAA1109_ENST00000388738.3_Missense_Mutation_p.L1575R			Q2LD37	K1109_HUMAN	KIAA1109	1575					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GGCATGCAACTTTCAGGATCA	0.308000													29	412					0	0	1	0	0
GPR135	64582	broad.mit.edu	37	14	59930958	59930958	+	Silent	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr14:59930958C>T	ENST00000395116.1	-	1	1102	c.987G>A	c.(985-987)acG>acA	p.T329T		NM_022571.5	NP_072093.2	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	329						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.134)		CGGTGGTGGCCGTGCGCACCT	0.677000													8	157					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195508188	195508188	+	Silent	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr3:195508188G>A	ENST00000463781.3	-	2	10722	c.10263C>T	c.(10261-10263)caC>caT	p.H3421H	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.H3421H|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	189					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.582000													3	16					0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131621557	131621557	+	Missense_Mutation	SNP	G	G	C			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr12:131621557G>C	ENST00000261654.5	+	23	2993	c.2434G>C	c.(2434-2436)Gag>Cag	p.E812Q	GPR133_ENST00000535015.1_Missense_Mutation_p.E844Q|GPR133_ENST00000376682.4_Missense_Mutation_p.E498Q|GPR133_ENST00000543617.1_Missense_Mutation_p.E331Q|GPR133_ENST00000540207.1_3'UTR	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	812					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CCTGAATTCAGAGGTACGTCC	0.532000													13	260					0	0	1	0	0
SRCRB4D	136853	broad.mit.edu	37	7	76028102	76028102	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr7:76028102G>A	ENST00000275560.3	-	5	835	c.488C>T	c.(487-489)aCg>aTg	p.T163M	ZP3_ENST00000336517.4_Intron	NM_080744.1	NP_542782.1	Q8WTU2	SRB4D_HUMAN	scavenger receptor cysteine rich domain containing, group B (4 domains)	163						extracellular region|membrane	scavenger receptor activity	p.T163M(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						TGGGGGCTGCGTTGGCAAGAA	0.507000													60	822					0	0	1	0	0
SYT16	83851	broad.mit.edu	37	14	62542083	62542083	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr14:62542083G>A	ENST00000430451.2	+	3	1164	c.967G>A	c.(967-969)Gac>Aac	p.D323N	SYT16_ENST00000446982.2_Missense_Mutation_p.D323N|RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	323										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		CTATGCCACTGACAGCTCCTC	0.498000													40	587					0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131621523	131621523	+	Silent	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr12:131621523G>A	ENST00000261654.5	+	23	2959	c.2400G>A	c.(2398-2400)ctG>ctA	p.L800L	GPR133_ENST00000535015.1_Silent_p.L832L|GPR133_ENST00000376682.4_Silent_p.L486L|GPR133_ENST00000543617.1_Silent_p.L319L|GPR133_ENST00000540207.1_3'UTR	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	800					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CCCAGGGACTGTTCATATTCC	0.527000													13	282					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767609	77767609	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr8:77767609G>A	ENST00000521891.2	+	10	8900	c.8452G>A	c.(8452-8454)Gag>Aag	p.E2818K	ZFHX4_ENST00000518282.1_Missense_Mutation_p.E2792K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E2773K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E2773K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2773						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)			CACCGGAGACGAGGGAAACAC	0.478000										HNSCC(33;0.089)			32	180					0	0	1	0	0
GPX1	2876	broad.mit.edu	37	3	49395482	49395482	+	Missense_Mutation	SNP	G	G	C			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr3:49395482G>C	ENST00000419783.1	-	1	551	c.230C>G	c.(229-231)cCg>cGg	p.P77R	GPX1_ENST00000419349.1_Missense_Mutation_p.P77R|GPX1_ENST00000496791.1_5'UTR	NM_000581.2	NP_000572.2	P07203	GPX1_HUMAN	glutathione peroxidase 1	77					anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding			breast(1)|large_intestine(2)|lung(1)	4				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Glutathione(DB00143)	CTGGTTGCACGGGAAGCCGAG	0.726000													4	159					0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9036080	9036080	+	Silent	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr3:9036080C>T	ENST00000383836.3	-	19	2782	c.2355G>A	c.(2353-2355)cgG>cgA	p.R785R	SRGAP3_ENST00000360413.3_Silent_p.R761R	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	785					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CGCCGTTGTGCCGGCCCTCCC	0.567000			T	RAF1	pilocytic astrocytoma								6	555					0	0	1	0	0
USP7	7874	broad.mit.edu	37	16	9017122	9017122	+	Silent	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr16:9017122G>A	ENST00000344836.4	-	3	531	c.333C>T	c.(331-333)caC>caT	p.H111H	USP7_ENST00000381886.4_Silent_p.H95H|USP7_ENST00000535863.1_Silent_p.H12H	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	111	Interaction with TSPYL5.|Interaction with p53/TP53, MDM2 and EBNA1.|MATH.|Necessary for nuclear localization.				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						CGCTTTTTTGGTGTGGTCTGT	0.453000													6	489					0	0	1	0	0
DMRT3	58524	broad.mit.edu	37	9	990923	990923	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr9:990923C>T	ENST00000190165.2	+	2	1375	c.1337C>T	c.(1336-1338)tCa>tTa	p.S446L		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	446					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		CCATTTGTGTCAAAGCAGTCC	0.527000													32	392					0	0	1	0	0
DMRT3	58524	broad.mit.edu	37	9	990557	990557	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr9:990557C>T	ENST00000190165.2	+	2	1009	c.971C>T	c.(970-972)tCg>tTg	p.S324L		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	324					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		TACCCCATCTCGTCTTCCAAA	0.557000													15	336					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578475	7578475	+	Missense_Mutation	SNP	G	G	A	rs137852790		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr17:7578475G>A	ENST00000420246.2	-	5	587	c.455C>T	c.(454-456)cCg>cTg	p.P152L	TP53_ENST00000413465.2_Missense_Mutation_p.P152L|TP53_ENST00000445888.2_Missense_Mutation_p.P152L|TP53_ENST00000269305.4_Missense_Mutation_p.P152L|TP53_ENST00000455263.2_Missense_Mutation_p.P152L|TP53_ENST00000359597.4_Missense_Mutation_p.P152L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	152	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P152L(66)|p.P152R(8)|p.0?(8)|p.T150fs*16(6)|p.?(5)|p.P153fs*28(5)|p.P152fs*18(5)|p.P152fs*14(5)|p.P152Q(4)|p.P59L(2)|p.P20L(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P59R(1)|p.P20R(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P152fs*27(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.T18fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGTGCCGGGCGGGGGTGTGGA	0.612000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			45	233					0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71382685	71382685	+	Missense_Mutation	SNP	A	A	G			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr17:71382685A>G	ENST00000392650.3	-	31	4397	c.4397T>C	c.(4396-4398)cTg>cCg	p.L1466P	SDK2_ENST00000388726.3_Missense_Mutation_p.L1466P	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1466	Fibronectin type-III 9.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GAAGGGCTTCAGCCTGTAGGG	0.592000													2	11					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89402162	89402162	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr15:89402162G>A	ENST00000439576.2	+	12	6720	c.6346G>A	c.(6346-6348)Gcc>Acc	p.A2116T	ACAN_ENST00000561243.1_Missense_Mutation_p.A2116T|ACAN_ENST00000559004.1_Missense_Mutation_p.A2116T|ACAN_ENST00000352105.7_Missense_Mutation_p.A2116T	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2116					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGCATCTGCCGCCCCTGAGGC	0.562000													5	334					0	0	1	0	0
DMRT3	58524	broad.mit.edu	37	9	990581	990581	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr9:990581C>T	ENST00000190165.2	+	2	1033	c.995C>T	c.(994-996)tCa>tTa	p.S332L		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	332					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		TCTGTGGGATCAGCCTTTCGA	0.572000													16	377					0	0	1	0	0
ZC3H4	23211	broad.mit.edu	37	19	47570533	47570533	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr19:47570533C>T	ENST00000253048.5	-	15	3029	c.2992G>A	c.(2992-2994)Gtg>Atg	p.V998M	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	998							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GCCGCGGGCACGGGGGGCACT	0.741000													36	450					0	0	1	0	0
ABCG5	64240	broad.mit.edu	37	2	44055164	44055164	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr2:44055164G>A	ENST00000405322.1	-	4	1245	c.349C>T	c.(349-351)Cgg>Tgg	p.R117W	ABCG5_ENST00000260645.1_Missense_Mutation_p.R198W|ABCG5_ENST00000543989.1_5'UTR			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	198	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ACCCGGCGCCGCTCACCCGTG	0.597000													14	133					0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52200183	52200183	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr12:52200183G>A	ENST00000354534.5	+	27	5091	c.4913G>A	c.(4912-4914)cGt>cAt	p.R1638H	SCN8A_ENST00000545061.1_Missense_Mutation_p.R1597H	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1638					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	AAAGGGATTCGTACCCTGCTC	0.488000													13	619					0	0	1	0	0
C17orf59	54785	broad.mit.edu	37	17	8092931	8092931	+	Missense_Mutation	SNP	G	G	C			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr17:8092931G>C	ENST00000389017.4	-	1	633	c.528C>G	c.(526-528)tgC>tgG	p.C176W		NM_017622.2	NP_060092.2	Q96GS4	CQ059_HUMAN	chromosome 17 open reading frame 59	176										large_intestine(2)|lung(3)|urinary_tract(1)	6						CGGCGCCACCGCACGCCTCGC	0.736000													27	96					0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87035608	87035608	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr7:87035608G>A	ENST00000265723.4	-	26	3614	c.3503C>T	c.(3502-3504)cCc>cTc	p.P1168L	ABCB4_ENST00000453593.1_Missense_Mutation_p.P1114L|ABCB4_ENST00000359206.3_Missense_Mutation_p.P1161L|ABCB4_ENST00000358400.3_Missense_Mutation_p.P1114L|ABCB4_ENST00000545634.1_Missense_Mutation_p.P1161L	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	1168	ABC transporter 2.		P -> S (in GBD1).		cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					ACTTACGTGGGGTAACGTCTC	0.398000													9	719					0	0	1	0	0
SMO	6608	broad.mit.edu	37	7	128850261	128850261	+	Missense_Mutation	SNP	G	G	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr7:128850261G>T	ENST00000249373.3	+	9	1804	c.1524G>T	c.(1522-1524)gaG>gaT	p.E508D	RP11-286H14.8_ENST00000466717.1_RNA	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled family receptor	508					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CTGACTGTGAGATCAAGAATC	0.552000			Mis		skin basal cell						OREG0018305	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	74	378					3.31162e-33	3.53387e-33	1	1	0
ATP4A	495	broad.mit.edu	37	19	36050067	36050067	+	Silent	SNP	G	G	C			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr19:36050067G>C	ENST00000262623.3	-	8	1111	c.1083C>G	c.(1081-1083)cgC>cgG	p.R361R		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	361					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	TACTGGCCAGGCGCTTGGCTG	0.622000													106	859					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78513106	78513106	+	Missense_Mutation	SNP	A	A	G			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr12:78513106A>G	ENST00000397909.2	+	15	3303	c.3130A>G	c.(3130-3132)Agc>Ggc	p.S1044G	NAV3_ENST00000266692.7_Missense_Mutation_p.S1044G|NAV3_ENST00000228327.6_Missense_Mutation_p.S1044G|NAV3_ENST00000536525.2_Missense_Mutation_p.S1044G			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1044	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TGCAGGAAAAAGCAGTGGAGA	0.468000										HNSCC(70;0.22)			78	542					0	0	1	0	0
FUT1	2523	broad.mit.edu	37	19	49254216	49254216	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr19:49254216C>T	ENST00000310160.3	-	4	1297	c.323G>A	c.(322-324)cGc>cAc	p.R108H		NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	108					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		AAAGGCCCGGCGGCCGTTGAG	0.662000													5	288					0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70903959	70903959	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr2:70903959G>A	ENST00000264436.3	-	13	2006	c.1562C>T	c.(1561-1563)gCg>gTg	p.A521V	ADD2_ENST00000413157.2_Missense_Mutation_p.A521V|ADD2_ENST00000407644.2_Missense_Mutation_p.A521V|ADD2_ENST00000355733.3_Missense_Mutation_p.A521V|ADD2_ENST00000430656.1_Missense_Mutation_p.A537V	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	521					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						AATGACGCTCGCCAGGAGCTG	0.602000													31	367					0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76022446	76022446	+	Silent	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr6:76022446C>T	ENST00000393004.2	-	5	3323	c.3102G>A	c.(3100-3102)cgG>cgA	p.R1034R	FILIP1_ENST00000237172.7_Silent_p.R1034R|FILIP1_ENST00000370020.1_Silent_p.R935R|FILIP1_ENST00000498523.1_5'UTR			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1034										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TGAGGATTGTCCGTCCCATGG	0.468000													84	844					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10469289	10469289	+	Silent	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr8:10469289C>T	ENST00000382483.3	-	4	2542	c.2319G>A	c.(2317-2319)ccG>ccA	p.P773P		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	773					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GTATGGGGGCCGGCGAGCATG	0.662000													86	527					0	0	1	0	0
DMRT3	58524	broad.mit.edu	37	9	990814	990814	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr9:990814C>T	ENST00000190165.2	+	2	1266	c.1228C>T	c.(1228-1230)Cct>Tct	p.P410S		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	410					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		GTATGTCAGTCCTTTCCCCAG	0.582000													23	179					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141245239	141245239	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr2:141245239G>A	ENST00000389484.3	-	58	10161	c.9190C>T	c.(9190-9192)Cga>Tga	p.R3064*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3064					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCATTGGGTCGGCTAGAATCG	0.313000										TSP Lung(27;0.18)			30	330					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			15	91					8.00594e-06	8.10793e-06	1	1	0
BAI3	577	broad.mit.edu	37	6	69666614	69666614	+	Silent	SNP	A	A	C			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr6:69666614A>C	ENST00000370598.1	+	8	2259	c.1438A>C	c.(1438-1440)Agg>Cgg	p.R480R		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	480	TSP type-1 4.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AAGGCGAATAAGGACCTGTCA	0.507000													30	404					0	0	1	0	0
SQSTM1	8878	broad.mit.edu	37	5	179248115	179248115	+	Missense_Mutation	SNP	C	C	G			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr5:179248115C>G	ENST00000389805.4	+	1	357	c.179C>G	c.(178-180)cCt>cGt	p.P60R	SQSTM1_ENST00000402874.3_5'UTR|SQSTM1_ENST00000510187.1_Missense_Mutation_p.P60R|SQSTM1_ENST00000376929.3_Intron	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	60	Interaction with PAWR.|Interaction with PRKCZ and dimerization (By similarity).|OPR.				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCGCTGCGGCCTGGCGGCTTC	0.801000													3	10					0	0	1	0	0
PAQR3	152559	broad.mit.edu	37	4	79847745	79847745	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr4:79847745G>A	ENST00000512733.1	-	4	845	c.632C>T	c.(631-633)tCg>tTg	p.S211L	PAQR3_ENST00000380645.4_Missense_Mutation_p.S211L|PAQR3_ENST00000515541.1_5'UTR|PAQR3_ENST00000295462.3_3'UTR	NM_001040202.1	NP_001035292.1	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III	211						Golgi membrane|integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						TCCATATCCCGAAACAGAACA	0.443000													27	476					0	0	1	0	0
GPR113	165082	broad.mit.edu	37	2	26536714	26536714	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr2:26536714G>A	ENST00000333478.6	-	5	1175	c.593C>T	c.(592-594)cCg>cTg	p.P198L	GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000421160.2_Missense_Mutation_p.P328L|GPR113_ENST00000311519.1_Missense_Mutation_p.P397L|GPR113_ENST00000541401.1_5'UTR	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	397					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P198L(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCAGCCATCGGGCAGCGCTG	0.597000													19	241					0	0	1	0	0
KIAA1147	57189	broad.mit.edu	37	7	141385395	141385395	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr7:141385395G>A	ENST00000536163.1	-	3	409	c.410C>T	c.(409-411)gCc>gTc	p.A137V	KIAA1147_ENST00000482493.1_Missense_Mutation_p.A46V	NM_001080392.1	NP_001073861.1	A4D1U4	LCHN_HUMAN	KIAA1147	137										breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12	Melanoma(164;0.0171)					GGGCATGTTGGCAAAGCAGGC	0.537000													5	370					0	0	1	0	0
CADM1	23705	broad.mit.edu	37	11	115080343	115080343	+	Silent	SNP	G	G	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr11:115080343G>T	ENST00000537058.1	-	8	1049	c.1029C>A	c.(1027-1029)acC>acA	p.T343T	CADM1_ENST00000452722.2_Silent_p.T343T|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000331581.6_Silent_p.T343T			Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	343				PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).	adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	p.T343T(5)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		tggtggtggtggttgttgtgg	0.433000													7	280					2.0095e-06	2.06136e-06	1	1	0
DMRT3	58524	broad.mit.edu	37	9	990458	990458	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr9:990458C>G	ENST00000190165.2	+	2	910	c.872C>G	c.(871-873)tCa>tGa	p.S291*		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	291					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		AGCCGATCCTCAGTCACGGGA	0.582000													26	368					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105419058	105419058	+	Silent	SNP	G	G	A	rs149453124	by1000genomes	TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr14:105419058G>A	ENST00000333244.5	-	7	2849	c.2730C>T	c.(2728-2730)gcC>gcT	p.A910A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	910						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTTTGGGGCCGGCTCCCTCGG	0.617000													111	1325					0	0	1	0	0
AP1G2	8906	broad.mit.edu	37	14	24033838	24033838	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr14:24033838G>A	ENST00000308724.5	-	8	1609	c.854C>T	c.(853-855)gCc>gTc	p.A285V	RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000556277.1_5'UTR|AP1G2_ENST00000397120.3_Missense_Mutation_p.A285V	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	285					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		CGCATTTCCGGCATTTCGGCT	0.547000													5	270					0	0	1	0	0
GRIA1	0	broad.mit.edu	37	5	153054198	153054198	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr5:153054198C>T	ENST00000285900.5	+	6	1181	c.838C>T	c.(838-840)Cgg>Tgg	p.R280W	GRIA1_ENST00000521843.2_Missense_Mutation_p.R211W|GRIA1_ENST00000518783.1_Missense_Mutation_p.R290W|GRIA1_ENST00000448073.4_Missense_Mutation_p.R290W|GRIA1_ENST00000518142.1_Missense_Mutation_p.R200W|GRIA1_ENST00000340592.5_Missense_Mutation_p.R280W	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	280					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGACCACACACGGGTGGACTG	0.557000													47	332					0	0	1	0	0
C16orf46	123775	broad.mit.edu	37	16	81095233	81095233	+	Silent	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr16:81095233G>A	ENST00000378611.4	-	3	836	c.721C>T	c.(721-723)Ctg>Ttg	p.L241L	C16orf46_ENST00000299578.5_Silent_p.L241L|RP11-303E16.8_ENST00000564536.1_RNA	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	241										NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						TCCACATCCAGCACCTTCTCT	0.468000													68	810					0	0	1	0	0
PCDHB14	0	broad.mit.edu	37	5	140604077	140604077	+	Silent	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr5:140604077C>T	ENST00000239449.4	+	1	1000	c.1000C>T	c.(1000-1002)Cta>Tta	p.L334L	PCDHB14_ENST00000515856.2_Silent_p.L181L	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		334	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGCACCCTTCTAGTTAAAGT	0.408000													6	418					0	0	1	0	0
U2AF2	11338	broad.mit.edu	37	19	56171880	56171880	+	Splice_Site	SNP	A	A	C			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr19:56171880A>C	ENST00000450554.2	+	4	1189		c.e4-1		U2AF2_ENST00000308924.4_Splice_Site	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2						mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding	p.?(2)		biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CACCTCCCCCAGTCGTTCCCC	0.637000													10	76					0	0	1	0	0
CXXC11	285093	broad.mit.edu	37	2	242814188	242814188	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr2:242814188G>A	ENST00000343216.3	+	2	509	c.481G>A	c.(481-483)Gcc>Acc	p.A161T		NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN	CXXC finger protein 11	161						integral to membrane											CCCAGACCCCGCCTGGAGCGC	0.706000													6	64					0	0	1	0	0
DMRT3	58524	broad.mit.edu	37	9	990525	990525	+	Missense_Mutation	SNP	C	C	G			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr9:990525C>G	ENST00000190165.2	+	2	977	c.939C>G	c.(937-939)atC>atG	p.I313M		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	313					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		ATGGGCACATCTTTGAACACA	0.557000													11	303					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179470381	179470381	+	Missense_Mutation	SNP	G	G	C			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr2:179470381G>C	ENST00000589042.1	-	279	53865	c.53641C>G	c.(53641-53643)Ctt>Gtt	p.L17881V	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L9008V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L8816V|TTN_ENST00000359218.5_Missense_Mutation_p.L8941V|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L15313V|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L16240V|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16240	Fibronectin type-III 29.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCAGTCAAGTGTGATAGTG	0.438000													5	307					0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74289257	74289257	+	Missense_Mutation	SNP	C	C	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr17:74289257C>A	ENST00000262765.5	-	4	1232	c.1053G>T	c.(1051-1053)ttG>ttT	p.L351F		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	351							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CGACGACAGGCAATGTCAATC	0.483000													97	415					4.08182e-41	4.44527e-41	1	1	0
EN1	2019	broad.mit.edu	37	2	119604052	119604052	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr2:119604052C>T	ENST00000295206.6	-	1	1202	c.692G>A	c.(691-693)gGc>gAc	p.G231D		NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	231	Poly-Gly.				skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						GCTCCCCGCGCCGCCTCCACT	0.766000													15	84					0	0	1	0	0
DMRT3	58524	broad.mit.edu	37	9	990980	990980	+	Missense_Mutation	SNP	C	C	G			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr9:990980C>G	ENST00000190165.2	+	2	1432	c.1394C>G	c.(1393-1395)tCt>tGt	p.S465C		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	465					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		TCCTCAGACTCTAGAACACTC	0.512000													44	563					0	0	1	0	0
CROCCP2	0	broad.mit.edu	37	1	16955029	16955029	+	RNA	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr1:16955029C>T	ENST00000412962.1	-	0	410																											TTCCTCCAGCCGGTCCCGCTG	0.682000													4	31					0	0	1	0	0
PACSIN2	11252	broad.mit.edu	37	22	43272926	43272926	+	Silent	SNP	G	G	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr22:43272926G>A	ENST00000263246.3	-	9	1320	c.1119C>T	c.(1117-1119)acC>acT	p.T373T	PACSIN2_ENST00000407585.1_Intron|PACSIN2_ENST00000402229.1_Silent_p.T373T|PACSIN2_ENST00000496919.1_5'UTR|PACSIN2_ENST00000337959.4_Intron|PACSIN2_ENST00000403744.3_Silent_p.T373T	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	373					actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				TCTCACTGACGGTGCTGCCCG	0.567000													167	622					0	0	1	0	0
SDHAP1	0	broad.mit.edu	37	3	195717061	195717061	+	RNA	SNP	C	C	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr3:195717061C>A	ENST00000427841.1	-	0	89					NR_003264.2																						AGGGACTCACCGCCTTGGCCA	0.791000													7	25					5.18039e-06	5.28001e-06	1	1	0
LAMA1	284217	broad.mit.edu	37	18	7036029	7036029	+	Missense_Mutation	SNP	G	G	A	rs148234507	byFrequency	TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr18:7036029G>A	ENST00000389658.3	-	13	1889	c.1796C>T	c.(1795-1797)aCg>aTg	p.T599M		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	599	Laminin IV type A 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACTGTCTACCGTCTCTACCGG	0.448000													22	235					0	0	1	0	0
IQSEC1	9922	broad.mit.edu	37	3	12983364	12983364	+	Splice_Site	SNP	C	C	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr3:12983364C>T	ENST00000273221.4	-	2	283	c.65_splice	c.e2-1	p.V23_splice	IQSEC1_ENST00000473088.1_5'UTR	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	23					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCGCCCTCGACGCTGCAGAGG	0.672000													7	49					0	0	1	0	0
SYF2	25949	broad.mit.edu	37	1	25555531	25555531	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr1:25555531delT	ENST00000236273.4	-	3	241	c.216delA	c.(214-216)aafs	p.K72fs	SYF2_ENST00000354361.3_Intron	NM_015484.4	NP_056299.1	O95926	SYF2_HUMAN	SYF2 pre-mRNA-splicing factor	72						catalytic step 2 spliceosome				kidney(1)|large_intestine(1)|lung(4)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-26)|Colorectal(126;2.54e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000455)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00145)|GBM - Glioblastoma multiforme(114;0.00443)|READ - Rectum adenocarcinoma(331;0.0936)|Lung(427;0.201)		CCAAACGAGCTTTTTTGGCTT	0.348													7	657	---	---	---	---					
NBPF10	100132406	broad.mit.edu	37	1	145367736	145367737	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr1:145367736_145367737insA	ENST00000342960.5	+	83	10367_10368	c.10332_10333insA	c.(10330-10335)ggaaaafs	p.GK3444fs	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3444										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		aggggaaggggaaaaaaagaag	0.416													7	622	---	---	---	---					
PI4KB	5298	broad.mit.edu	37	1	151265430	151265432	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr1:151265430_151265432delCTC	ENST00000368875.2	-	13	2963_2965	c.2383_2385delGAG	c.(2383-2385)del	p.E795del	PI4KB_ENST00000368874.4_In_Frame_Del_p.E768del|PI4KB_ENST00000271657.5_In_Frame_Del_p.E795del|PI4KB_ENST00000529142.1_In_Frame_Del_p.E451del|PI4KB_ENST00000368873.1_In_Frame_Del_p.E783del|PI4KB_ENST00000368872.1_In_Frame_Del_p.E768del	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	783					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCTGCAGCTGCTCCTCAGTCATG	0.542													62	381	---	---	---	---					
SLC11A1	6556	broad.mit.edu	37	2	219252307	219252307	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr2:219252307delT	ENST00000233202.6	+	7	931	c.591delT	c.(589-591)gcfs	p.A197fs	SLC11A1_ENST00000539932.1_Frame_Shift_Del_p.A79fs	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	197					activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCTGGAAGCTTTTTTTGGAC	0.448													8	2055	---	---	---	---					
AC114765.1	0	broad.mit.edu	37	2	221183172	221183173	+	RNA	DEL	AC	AC	-	rs5838794		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr2:221183172_221183173delAC	ENST00000432993.1	+	0	306																											ccttgtgcctacacacacacac	0.525													2	4	---	---	---	---					
FIP1L1	81608	broad.mit.edu	37	4	54319248	54319249	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr4:54319248_54319249delAG	ENST00000337488.6	+	16	1641_1642	c.1447_1448delAG	c.(1447-1449)afs	p.R483fs	FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.R409fs|FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.R477fs|FIP1L1_ENST00000507166.1_Intron	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	483	Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.				mRNA processing	nucleus	RNA binding	p.R487fs*3(2)		large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			agaACGCACCAGAGAGAGAGAG	0.470			T	PDGFRA	idiopathic hypereosinophilic syndrome								9	318	---	---	---	---					
RP11-525J21.1	0	broad.mit.edu	37	4	60636292	60636293	+	RNA	DEL	TG	TG	-	rs34023080		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr4:60636292_60636293delTG	ENST00000511603.1	-	0	341																											CATGACAGAAtgtgtgtgtgtg	0.327													4	3	---	---	---	---					
MAML3	55534	broad.mit.edu	37	4	140811064	140811072	+	In_Frame_Del	DEL	TGCTGCTGC	TGCTGCTGC	-	rs71855026		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr4:140811064_140811072delTGCTGCTGC	ENST00000509479.2	-	2	2374_2382	c.1518_1526delGCAGCAGCA	c.(1516-1527)caa>ca	p.QQQQ506del	MAML3_ENST00000398940.1_Splice_Site_p.37_splice|MAML3_ENST00000327122.5_In_Frame_Del_p.QQQQ350del	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	506	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TGAGtgctgttgctgctgctgctgctgct	0.517													9	401	---	---	---	---					
CSNK1G3	1456	broad.mit.edu	37	5	122881495	122881495	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr5:122881495delA	ENST00000395412.1	+	2	857	c.138delA	c.(136-138)ggfs	p.G46fs	CSNK1G3_ENST00000512718.3_Intron|CSNK1G3_ENST00000360683.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000361991.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000521364.1_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000508708.1_3'UTR|CSNK1G3_ENST00000511130.2_Intron|CSNK1G3_ENST00000395411.1_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000345990.4_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000510842.2_Frame_Shift_Del_p.G46fs	NM_001044723.1	NP_001038188.1	Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	46	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		TTAGAGTTGGAAAAAAAATTG	0.363													7	497	---	---	---	---					
HDGFL1	154150	broad.mit.edu	37	6	22570346	22570347	+	In_Frame_Ins	INS	-	-	GGC			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr6:22570346_22570347insGGC	ENST00000510882.2	+	1	552_553	c.542_543insGGC	c.(541-543)agc>aGGCgc	p.181_181S>RR	HDGFL1_ENST00000230012.3_In_Frame_Ins_p.181_181S>RR			Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	181	Ala-rich.|Glu-rich.									kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					gaagcggagagggcggcggcgg	0.767													5	6	---	---	---	---					
ZMIZ2	83637	broad.mit.edu	37	7	44805118	44805119	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr7:44805118_44805119insC	ENST00000309315.4	+	16	2305_2306	c.2182_2183insC	c.(2182-2184)cccfs	p.P728fs	ZMIZ2_ENST00000441627.1_Frame_Shift_Ins_p.P728fs|ZMIZ2_ENST00000413916.1_Frame_Shift_Ins_p.P670fs|ZMIZ2_ENST00000265346.7_Frame_Shift_Ins_p.P702fs|ZMIZ2_ENST00000433667.1_Frame_Shift_Ins_p.P696fs	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	728	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCCCGGCGCTGCCCCCTTTGCC	0.698													10	88	---	---	---	---					
PCLO	27445	broad.mit.edu	37	7	82595385	82595385	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr7:82595385delT	ENST00000423517.2	-	4	4056	c.3719delA	c.(3718-3720)agfs	p.K1240fs	PCLO_ENST00000333891.8_Frame_Shift_Del_p.K1240fs	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1179					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGGGGTTGGCTTTTTTTCTTC	0.383													8	1670	---	---	---	---					
SFTPC	6440	broad.mit.edu	37	8	22020159	22020161	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr8:22020159_22020161delGTG	ENST00000521315.1	+	2	147_149	c.115_117delGTG	c.(115-117)del	p.V44del	SFTPC_ENST00000520605.1_Intron|SFTPC_ENST00000437090.2_In_Frame_Del_p.V44del|SFTPC_ENST00000524255.1_Intron|SFTPC_ENST00000318561.3_In_Frame_Del_p.V44del|SFTPC_ENST00000522109.1_In_Frame_Del_p.V44del			P11686	PSPC_HUMAN	surfactant protein C	44					respiratory gaseous exchange	extracellular space				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3				Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CCTTCTTATCGTGGTGGTGGTGG	0.601													7	767	---	---	---	---					
RP11-10H3.1	0	broad.mit.edu	37	8	50103352	50103355	+	RNA	DEL	CCTC	CCTC	-	rs77568781		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr8:50103352_50103355delCCTC	ENST00000518222.1	+	0	271																											ttctttccttcctccctccctccc	0.402													8	20	---	---	---	---					
ZNF503	84858	broad.mit.edu	37	10	77161100	77161101	+	In_Frame_Ins	INS	-	-	CCGCCTCCGCCT	rs72126859		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr10:77161100_77161101insCCGCCTCCGCCT	ENST00000372524.4	-	1	563_564	c.77_78insAGGCGGAGGCGG	c.(76-78)ggg>gAGGCGGAGGCGGgg	p.25_26insEAEA	ZNF503_ENST00000535216.1_In_Frame_Ins_p.25_26insEAEA	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	25	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					GGTCTGCAccgccgcctccgcc	0.713													7	25	---	---	---	---					
GRIN2B	2904	broad.mit.edu	37	12	13768140	13768141	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr12:13768140_13768141insC	ENST00000279593.3	-	7	1770_1771	c.1561_1562insG	c.(1561-1563)ggtfs	p.G521fs		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	521					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.E521K(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTCGACCACCTCCGATCGTTCC	0.500													9	362	---	---	---	---					
TMBIM4	51643	broad.mit.edu	37	12	66531937	66531937	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr12:66531937delA	ENST00000358230.3	-	7	640	c.520delT	c.(520-522)atfs	p.Y174fs	TMBIM4_ENST00000286424.7_Frame_Shift_Del_p.Y221fs|TMBIM4_ENST00000542724.1_Frame_Shift_Del_p.Y143fs|TMBIM4_ENST00000556010.1_Intron|TMBIM4_ENST00000398033.4_Frame_Shift_Del_p.F158fs|TMBIM4_ENST00000539652.1_Intron|TMBIM4_ENST00000544599.1_5'UTR	NM_016056.2	NP_057140.2	Q9HC24	TMBI4_HUMAN	transmembrane BAX inhibitor motif containing 4	174						integral to membrane	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		ATCTCACTATAAAAAAAAAAC	0.353													7	193	---	---	---	---					
LINC00381	0	broad.mit.edu	37	13	74993520	74993535	+	RNA	DEL	CTTCCTTCCTTCCTTT	CTTCCTTCCTTCCTTT	-	rs71870153	by1000genomes	TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr13:74993520_74993535delCTTCCTTCCTTCCTTT	ENST00000423629.1	+	0	56					NR_047005.1																						ccctcccttccttccttccttcctttcttccttcct	0.542													7	26	---	---	---	---					
RP11-305B6.3	0	broad.mit.edu	37	14	44690412	44690415	+	RNA	DEL	GAAG	GAAG	-	rs72383008		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr14:44690412_44690415delGAAG	ENST00000553827.1	-	0	69																											GTAGAAAGAAgaaggaaggaagga	0.412													4	7	---	---	---	---					
IGHV4-39	0	broad.mit.edu	37	14	106877821	106877826	+	RNA	DEL	CTACTG	CTACTG	-			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr14:106877821_106877826delCTACTG	ENST00000390619.2	-	0	217_222																											GTAGTAACTACTACTGCTGATGGAGC	0.607													12	422	---	---	---	---					
CTD-2008A1.1	0	broad.mit.edu	37	15	45119226	45119227	+	RNA	INS	-	-	TG			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr15:45119226_45119227insTG	ENST00000558419.1	+	0	358_359																											GATCCCGAGACTGGGGATGAGG	0.446													2	4	---	---	---	---					
ATP8B4	79895	broad.mit.edu	37	15	50193367	50193368	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr15:50193367_50193368insT	ENST00000284509.6	-	21	2351_2352	c.2210_2211insA	c.(2209-2211)acafs	p.T737fs	ATP8B4_ENST00000559829.1_Frame_Shift_Ins_p.T737fs	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	737					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CCAGCTGCTGCTTTTTTTCACA	0.361													42	252	---	---	---	---					
AC002519.6	0	broad.mit.edu	37	16	31815184	31815185	+	RNA	INS	-	-	AC	rs10655372	by1000genomes	TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr16:31815184_31815185insAC	ENST00000569756.1	+	0	413																											Tacacacacatacacacacaca	0.391													4	6	---	---	---	---					
RP11-361L15.4	0	broad.mit.edu	37	16	66982429	66982430	+	RNA	INS	-	-	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr16:66982429_66982430insT	ENST00000566869.1	+	0	147																											ACCAACCCACCTTTCCCGGCCC	0.673													22	315	---	---	---	---					
RP11-879D6.1	0	broad.mit.edu	37	17	69096441	69096444	+	RNA	DEL	ACAC	ACAC	-	rs56101558		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr17:69096441_69096444delACAC	ENST00000569074.1	-	0	215																											acacacacatacacacacacacac	0.422													5	5	---	---	---	---					
GRIN2C	2905	broad.mit.edu	37	17	72839130	72839131	+	In_Frame_Ins	INS	-	-	GCTCCGGGG	rs67510083	by1000genomes	TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr17:72839130_72839131insGCTCCGGGG	ENST00000293190.5	-	13	3291_3292	c.3145_3146insCCCCGGAGC	c.(3145-3147)gga>CCCCGGAGCgga	p.1048_1049insPRS		NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	1048				E -> EPPE (in Ref. 3; AAI40802).	glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	CAGGTCCTCCAGCTCCGGGAAG	0.762													3	2	---	---	---	---					
LYPD3	27076	broad.mit.edu	37	19	43969653	43969655	+	In_Frame_Del	DEL	AGC	AGC	-	rs141441894	byFrequency	TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr19:43969653_43969655delAGC	ENST00000244333.3	-	1	157_159	c.69_71delGCT	c.(67-72)ctt>ct	p.LL23del		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	23						anchored to plasma membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				ACCTCCGCGAAGCAGCAGCAGCA	0.675													12	886	---	---	---	---					
APCDD1L-AS1	0	broad.mit.edu	37	20	57159887	57159888	+	RNA	INS	-	-	CTTC	rs142796198	by1000genomes	TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr20:57159887_57159888insCTTC	ENST00000427140.1	+	0	943					NR_034147.1																						ctcccttctttcttccttcctt	0.535													16	27	---	---	---	---					
BIK	638	broad.mit.edu	37	22	43525245	43525247	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr22:43525245_43525247delGCT	ENST00000216115.2	+	5	480_482	c.417_419delGCT	c.(415-420)gcg>gc	p.AL139del		NM_001197.4	NP_001188.1	Q13323	BIK_HUMAN	BCL2-interacting killer (apoptosis-inducing)	139	Leucine-zipper (Potential).				apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	endomembrane system|integral to membrane				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5		Ovarian(80;0.0694)				tgctgctggcgctgctgctgctg	0.724													7	397	---	---	---	---					
