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
PTCH2	8643	broad.mit.edu	37	1	45295299	45295299	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr1:45295299C>T	ENST00000447098.2	-	8	1081	c.1070G>A	c.(1069-1071)cGg>cAg	p.R357Q	PTCH2_ENST00000372192.3_Missense_Mutation_p.R357Q	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	357					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CACAAAGCGCCGCTGCCAGGC	0.617									Basal Cell Nevus syndrome				13	155	---	---	---	---
LRRIQ3	127255	broad.mit.edu	37	1	74575077	74575077	+	Splice_Site	SNP	C	C	A			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr1:74575077C>A	ENST00000354431.4	-	5	1059		c.e5+1		LRRIQ3_ENST00000468759.1_Splice_Site|LRRIQ3_ENST00000395089.1_Splice_Site|LRRIQ3_ENST00000370909.2_Splice_Site	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3											NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						ATTATACTTACATGTTTCCAA	0.269													4	6	---	---	---	---
PTGS2	5743	broad.mit.edu	37	1	186647446	186647446	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr1:186647446G>A	ENST00000367468.5	-	4	540	c.404C>T	c.(403-405)aCt>aTt	p.T135I	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	135					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	AAGGGCTCTAGTATAATAGGA	0.438													8	46	---	---	---	---
HHAT	55733	broad.mit.edu	37	1	210522367	210522367	+	Silent	SNP	C	C	T			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr1:210522367C>T	ENST00000367010.1	+	2	275	c.48C>T	c.(46-48)ggC>ggT	p.G16G	HHAT_ENST00000261458.3_Silent_p.G16G|HHAT_ENST00000308852.6_5'UTR|HHAT_ENST00000545781.1_Intron|HHAT_ENST00000541565.1_Silent_p.G16G|HHAT_ENST00000545154.1_Intron|HHAT_ENST00000391905.3_Silent_p.G16G|HHAT_ENST00000413764.2_Silent_p.G16G|HHAT_ENST00000537898.1_Silent_p.G16G	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	16					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		CCTCACTAGGCTTCCACTTCT	0.478													18	30	---	---	---	---
ADCK3	56997	broad.mit.edu	37	1	227170646	227170646	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr1:227170646T>G	ENST00000366779.1	+	13	3762	c.991T>G	c.(991-993)Ttc>Gtc	p.F331V	ADCK3_ENST00000433743.2_Intron|ADCK3_ENST00000366778.1_Missense_Mutation_p.F279V|ADCK3_ENST00000458507.2_Missense_Mutation_p.F52V|ADCK3_ENST00000366777.3_Missense_Mutation_p.F331V|ADCK3_ENST00000478406.1_3'UTR			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	331	Protein kinase.				cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						GTTGGAATACTTCGAGGAGCG	0.647													10	12	---	---	---	---
PPM1G	5496	broad.mit.edu	37	2	27604624	27604624	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr2:27604624A>G	ENST00000344034.4	-	10	1747	c.1483T>C	c.(1483-1485)Tgt>Cgt	p.C495R	PPM1G_ENST00000350803.4_Missense_Mutation_p.C495R	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	495					cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					ATGTTGTCACACCCTGTACCA	0.547													4	89	---	---	---	---
SMEK2	57223	broad.mit.edu	37	2	55844316	55844316	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr2:55844316T>C	ENST00000272313.5	-	1	433	c.106A>G	c.(106-108)Aag>Gag	p.K36E	SMEK2_ENST00000407823.3_Missense_Mutation_p.K36E|SMEK2_ENST00000345102.5_Missense_Mutation_p.K36E|SMEK2_ENST00000477749.1_5'UTR	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	36	WH1.					microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GACATCCCCTTGAGCTCCTCC	0.592													38	52	---	---	---	---
SCN1A	6323	broad.mit.edu	37	2	166908358	166908358	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr2:166908358G>A	ENST00000423058.2	-	6	852	c.835C>T	c.(835-837)Caa>Taa	p.Q279*	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Nonsense_Mutation_p.Q279*|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.Q279*|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Nonsense_Mutation_p.Q279*	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	279						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GGAGGCCATTGTATACATTTA	0.393													32	27	---	---	---	---
SP3	6670	broad.mit.edu	37	2	174777796	174777796	+	Splice_Site	SNP	A	A	G			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr2:174777796A>G	ENST00000310015.6	-	6	2560		c.e6+1		SP3_ENST00000418194.2_Splice_Site|SP3_ENST00000455789.2_Splice_Site	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor						negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			AGTATTAGTAACCTGTATGTG	0.353													13	26	---	---	---	---
ECE2	9718	broad.mit.edu	37	3	183994314	183994314	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr3:183994314G>A	ENST00000404464.3	+	2	223	c.85G>A	c.(85-87)Gag>Aag	p.E29K	ECE2_ENST00000402825.3_Intron|ECE2_ENST00000359140.4_Intron|ECE2_ENST00000357474.5_Missense_Mutation_p.E29K|EIF2B5_ENST00000444495.1_Intron	NM_001100120.1|NM_001100121.1	NP_001093590.1|NP_001093591.1	O60344	ECE2_HUMAN	endothelin converting enzyme 2	0	Methyltransferase-like region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGACGCACCCGAGACCCCCGT	0.667													16	33	---	---	---	---
ECE2	9718	broad.mit.edu	37	3	183995186	183995186	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr3:183995186G>A	ENST00000402825.3	+	4	764	c.764G>A	c.(763-765)gGg>gAg	p.G255E	ECE2_ENST00000359140.4_Missense_Mutation_p.G108E|ECE2_ENST00000404464.3_Missense_Mutation_p.G137E|ECE2_ENST00000357474.5_Missense_Mutation_p.G183E|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	255	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTGCCCGATGGGCGTTCTCGC	0.602													27	54	---	---	---	---
PCDH18	54510	broad.mit.edu	37	4	138452262	138452262	+	Silent	SNP	T	T	C			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr4:138452262T>C	ENST00000344876.4	-	1	1367	c.981A>G	c.(979-981)caA>caG	p.Q327Q	PCDH18_ENST00000507846.1_Silent_p.Q107Q|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Silent_p.Q327Q	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	327	Cadherin 3.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GACCCAAATCTTGAGCCTGAA	0.353													14	21	---	---	---	---
VCAN	1462	broad.mit.edu	37	5	82815919	82815919	+	Silent	SNP	G	G	A			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr5:82815919G>A	ENST00000265077.3	+	7	2359	c.1794G>A	c.(1792-1794)gaG>gaA	p.E598E	VCAN_ENST00000512590.2_Silent_p.E550E|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Silent_p.E598E|VCAN_ENST00000343200.5_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	598	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AAGACTTGGAGTCAGTCTCAG	0.418													62	62	---	---	---	---
CCNJL	79616	broad.mit.edu	37	5	159680553	159680553	+	Silent	SNP	G	G	A			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr5:159680553G>A	ENST00000393977.3	-	7	1425	c.1140C>T	c.(1138-1140)acC>acT	p.T380T	CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000257536.7_Silent_p.T332T	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	380						nucleus				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTTGGTACGGGGTGTGGAGGG	0.632													33	54	---	---	---	---
TFAP2B	7021	broad.mit.edu	37	6	50810837	50810837	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr6:50810837C>T	ENST00000263046.4	+	8	1308	c.1142C>T	c.(1141-1143)gCg>gTg	p.A381V	TFAP2B_ENST00000393655.3_Missense_Mutation_p.A372V			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	372				QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047).	nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GATCTACTGGCGCAGGACCGG	0.567													7	235	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51484229	51484229	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr6:51484229T>C	ENST00000371117.3	-	67	12150	c.11875A>G	c.(11875-11877)Att>Gtt	p.I3959V	RP3-335N17.2_ENST00000454361.1_RNA|RP3-335N17.2_ENST00000589278.2_RNA	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3959					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TCTCGGACAATGTGGCGGCTA	0.552													77	71	---	---	---	---
TAS2R4	50832	broad.mit.edu	37	7	141478836	141478836	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr7:141478836T>G	ENST00000247881.2	+	1	595	c.548T>G	c.(547-549)tTg>tGg	p.L183W	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	183					sensory perception of taste	cilium membrane	taste receptor activity			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		TCTTTGGTCTTGAGCTCATCT	0.408													86	137	---	---	---	---
TACC1	6867	broad.mit.edu	37	8	38699927	38699927	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr8:38699927T>G	ENST00000379931.3	+	11	2498	c.2119T>G	c.(2119-2121)Tat>Gat	p.Y707D	TACC1_ENST00000443286.2_Missense_Mutation_p.Y682D|TACC1_ENST00000520615.1_Missense_Mutation_p.Y500D|TACC1_ENST00000276520.8_Missense_Mutation_p.Y285D|TACC1_ENST00000330691.6_Missense_Mutation_p.Y269D|TACC1_ENST00000317827.4_Missense_Mutation_p.Y695D|TACC1_ENST00000348567.4_Missense_Mutation_p.Y257D|TACC1_ENST00000519416.1_Missense_Mutation_p.Y499D|TACC1_ENST00000520973.1_Missense_Mutation_p.Y471D|TACC1_ENST00000518415.1_Missense_Mutation_p.Y621D|TACC1_ENST00000520611.1_Missense_Mutation_p.Y132D			O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	695	Interaction with CH-TOG.				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			CTTCAGGAGATATGAGAACCT	0.473													37	50	---	---	---	---
SH3GL2	6456	broad.mit.edu	37	9	17791307	17791307	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr9:17791307C>T	ENST00000380607.4	+	7	823	c.703C>T	c.(703-705)Caa>Taa	p.Q235*	SH3GL2_ENST00000537391.1_Nonsense_Mutation_p.Q188*	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	235	BAR.				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		GATCCTGCAGCAAGTCACGGT	0.423													36	6	---	---	---	---
ALDH1A1	216	broad.mit.edu	37	9	75526938	75526938	+	Missense_Mutation	SNP	C	C	A	rs142280224		TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr9:75526938C>A	ENST00000297785.3	-	10	1190	c.1136G>T	c.(1135-1137)gGc>gTc	p.G379V		NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	379					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	GACAAAGTAGCCTTTATTCCC	0.443													45	78	---	---	---	---
CDH23	64072	broad.mit.edu	37	10	73468898	73468898	+	Silent	SNP	C	C	T			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr10:73468898C>T	ENST00000224721.6	+	26	3170	c.3165C>T	c.(3163-3165)gcC>gcT	p.A1055A		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1050	Cadherin 10.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ACCGCGATGCCGTTGTGAGAA	0.627													6	60	---	---	---	---
CTSD	1509	broad.mit.edu	37	11	1776173	1776173	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr11:1776173C>T	ENST00000236671.2	-	6	922	c.790G>A	c.(790-792)Gtc>Atc	p.V264I	RP11-295K3.1_ENST00000427721.1_Missense_Mutation_p.M134I	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	264					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTGCGGGTGACATTCAGGTAG	0.622													36	51	---	---	---	---
KCNJ5	3762	broad.mit.edu	37	11	128781513	128781513	+	Silent	SNP	G	G	T			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr11:128781513G>T	ENST00000529694.1	+	2	721	c.345G>T	c.(343-345)cgG>cgT	p.R115R	KCNJ5_ENST00000533599.1_Silent_p.R115R|KCNJ5_ENST00000338350.4_Silent_p.R115R	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	115					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	CTTATATCCGGGGTGACCTGG	0.507													58	61	---	---	---	---
ZBTB44	29068	broad.mit.edu	37	11	130130970	130130970	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr11:130130970C>G	ENST00000525842.1	-	2	1166	c.799G>C	c.(799-801)Gct>Cct	p.A267P	ZBTB44_ENST00000397753.1_Missense_Mutation_p.A267P|ZBTB44_ENST00000357899.4_Missense_Mutation_p.A267P|ZBTB44_ENST00000530205.1_Missense_Mutation_p.A267P	NM_014155.4	NP_054874.3	Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		ACATAATCAGCCATTCTTCTA	0.433													7	143	---	---	---	---
DDX47	51202	broad.mit.edu	37	12	12976860	12976860	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr12:12976860C>A	ENST00000358007.3	+	8	829	c.807C>A	c.(805-807)ttC>ttA	p.F269L	DDX47_ENST00000352940.4_Intron	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	269	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		TTATGATATTCTGCAGCACCT	0.413													4	138	---	---	---	---
NTRK3	4916	broad.mit.edu	37	15	88576148	88576148	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr15:88576148G>A	ENST00000394480.2	-	14	1846	c.1525C>T	c.(1525-1527)Cct>Tct	p.P509S	NTRK3_ENST00000357724.2_Missense_Mutation_p.P501S|NTRK3_ENST00000317501.3_Missense_Mutation_p.P509S|NTRK3_ENST00000558676.1_Missense_Mutation_p.P501S|NTRK3_ENST00000542733.2_Missense_Mutation_p.P411S|NTRK3_ENST00000557856.1_Missense_Mutation_p.P501S|NTRK3_ENST00000360948.2_Missense_Mutation_p.P509S|NTRK3_ENST00000355254.2_Missense_Mutation_p.P509S|NTRK3_ENST00000558306.1_5'UTR|NTRK3_ENST00000540489.2_Missense_Mutation_p.P509S	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3						transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCAATGACAGGGATGCGAGTC	0.607			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			12	16	---	---	---	---
ITGA3	3675	broad.mit.edu	37	17	48151325	48151325	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr17:48151325T>A	ENST00000320031.8	+	8	1532	c.1202T>A	c.(1201-1203)aTc>aAc	p.I401N	ITGA3_ENST00000007722.7_Missense_Mutation_p.I401N|ITGA3_ENST00000544892.1_Missense_Mutation_p.I176N	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	401					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						AAAGTGTACATCTATCACAGT	0.577													25	40	---	---	---	---
SPIRE1	56907	broad.mit.edu	37	18	12463458	12463458	+	Silent	SNP	G	G	T			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr18:12463458G>T	ENST00000409402.4	-	12	1797	c.1530C>A	c.(1528-1530)ccC>ccA	p.P510P	SPIRE1_ENST00000410092.3_Silent_p.P496P|SPIRE1_ENST00000383356.2_Silent_p.P337P|SPIRE1_ENST00000453447.2_Silent_p.P376P|SPIRE1_ENST00000309836.5_Silent_p.P299P|SPIRE1_ENST00000464481.1_5'UTR	NM_001128626.1	NP_001122098.1	Q08AE8	SPIR1_HUMAN	spire-type actin nucleation factor 1	510						cytoskeleton|perinuclear region of cytoplasm	actin binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						TCTCTGGCTGGGGTGTTGATG	0.458													5	45	---	---	---	---
MAG	4099	broad.mit.edu	37	19	35800810	35800810	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr19:35800810C>T	ENST00000361922.4	+	8	1415	c.1265C>T	c.(1264-1266)gCg>gTg	p.A422V	MAG_ENST00000392213.3_Missense_Mutation_p.A422V|MAG_ENST00000593348.1_3'UTR|MAG_ENST00000537831.2_Missense_Mutation_p.A397V	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	422	Ig-like C2-type 4.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TCCCACTGCGCGGCAGCCCGA	0.677													5	201	---	---	---	---
NOVA2	4858	broad.mit.edu	37	19	46443285	46443285	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr19:46443285G>A	ENST00000263257.5	-	4	1509	c.1315C>T	c.(1315-1317)Cgc>Tgc	p.R439C		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	439	KH 3.					nucleus	RNA binding			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		ATCTGGATGCGAGCGCCCGTC	0.657													20	207	---	---	---	---
ZNF134	7693	broad.mit.edu	37	19	58132424	58132424	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr19:58132424G>A	ENST00000396161.5	+	3	1247	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	313						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		TCACACTGGAGAAAATCCTTA	0.423													88	98	---	---	---	---
COL6A1	1291	broad.mit.edu	37	21	47410706	47410706	+	Missense_Mutation	SNP	G	G	A	rs121912935		TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr21:47410706G>A	ENST00000361866.3	+	14	1136	c.1022G>A	c.(1021-1023)gGc>gAc	p.G341D		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	341	Triple-helical region.		G -> D (in BM).|G -> V (in BM).		axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	GGGTACCCAGGCCTGCCAGGC	0.542													42	57	---	---	---	---
PTPRD	5789	broad.mit.edu	37	9	8484295	8484295	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr9:8484295delT	ENST00000381196.4	-	27	3780	c.3237delA	c.(3235-3237)aaafs	p.K1079fs	PTPRD_ENST00000356435.5_Frame_Shift_Del_p.K1079fs|PTPRD_ENST00000397611.3_Frame_Shift_Del_p.K665fs|PTPRD_ENST00000537002.1_Frame_Shift_Del_p.K665fs|PTPRD_ENST00000360074.4_Frame_Shift_Del_p.K1066fs|PTPRD_ENST00000358503.5_Frame_Shift_Del_p.K1057fs|PTPRD_ENST00000355233.5_Frame_Shift_Del_p.K668fs|PTPRD_ENST00000486161.1_Frame_Shift_Del_p.K668fs|PTPRD_ENST00000397617.3_Frame_Shift_Del_p.K658fs|PTPRD_ENST00000397606.3_Frame_Shift_Del_p.K658fs|PTPRD_ENST00000540109.1_Frame_Shift_Del_p.K1079fs	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1079	Fibronectin type-III 8.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATGAATATGATTTCTCAGGCT	0.448										TSP Lung(15;0.13)			2	4	---	---	---	---
