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
MEIOB	254528	broad.mit.edu	37	16	1889339	1889339	+	Silent	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr16:1889339G>A	ENST00000412554.2	-	12	1329	c.1135C>T	c.(1135-1137)Ctg>Ttg	p.L379L	MEIOB_ENST00000470044.1_Silent_p.L172L|MEIOB_ENST00000452149.2_Silent_p.L379L|MEIOB_ENST00000397344.3_Silent_p.L379L|FAHD1_ENST00000382666.4_3'UTR|FAHD1_ENST00000382668.4_3'UTR|MEIOB_ENST00000325962.3_Silent_p.L379L	NM_001163560.2	NP_001157032.1			meiosis specific with OB domains																		AGATCAATCAGCACATGGAAA	0.423000													3	44					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41058222	41058222	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr5:41058222C>G	ENST00000399564.4	-	7	1149	c.699G>C	c.(697-699)caG>caC	p.Q233H	MROH2B_ENST00000506092.2_5'UTR	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		GCCAGGGCACCTGGCCCAGGG	0.532000													3	23					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33656101	33656101	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr6:33656101G>A	ENST00000374316.5	+	49	7521	c.6461G>A	c.(6460-6462)cGg>cAg	p.R2154Q	ITPR3_ENST00000605930.1_Missense_Mutation_p.R2154Q			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2154					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						ACCAAGCACCGGCTCTTCACC	0.597000													46	105					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150924794	150924794	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr5:150924794C>A	ENST00000261800.5	-	9	5906	c.5894G>T	c.(5893-5895)aGc>aTc	p.S1965I		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1965					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAACTGCAAGCTTTTGTCAAG	0.483000													7	40					0.307466	0.310808	1	1	0
MIR509-1	0	broad.mit.edu	37	X	146342106	146342106	+	RNA	SNP	A	A	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:146342106A>T	ENST00000385265.1	-	0	37					NR_030236.1|NR_030586.1																						ATTATACATGATTGCCACTGT	0.428000													5	267					0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70333471	70333471	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr11:70333471T>C	ENST00000338508.4	-	32	2929	c.2930A>G	c.(2929-2931)aAc>aGc	p.N977S	SHANK2_ENST00000409161.1_Missense_Mutation_p.N380S|SHANK2_ENST00000423696.2_Missense_Mutation_p.N597S|SHANK2_ENST00000449833.2_Missense_Mutation_p.N381S			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	597					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GTTGCGGAAGTTGGCTTGCGG	0.592000													5	170					0	0	1	0	0
KCNK13	56659	broad.mit.edu	37	14	90650849	90650849	+	Silent	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr14:90650849G>A	ENST00000282146.4	+	2	1170	c.729G>A	c.(727-729)ctG>ctA	p.L243L		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	243						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				TTGGGGACCTGGTCAGCAGCC	0.532000													19	33					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49692138	49692138	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr3:49692138A>T	ENST00000296452.4	+	5	5263	c.5149A>T	c.(5149-5151)Aac>Tac	p.N1717Y		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1717					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTTGGTTATCAACCTCAATGC	0.567000													10	261					0	0	1	0	0
BAG6	7917	broad.mit.edu	37	6	31612931	31612931	+	Silent	SNP	C	C	G			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr6:31612931C>G	ENST00000404765.2	-	10	1450	c.1161G>C	c.(1159-1161)cgG>cgC	p.R387R	BAG6_ENST00000439687.2_Silent_p.R387R|BAG6_ENST00000362049.6_Silent_p.R387R|BAG6_ENST00000375964.6_Silent_p.R393R|BAG6_ENST00000375976.4_Silent_p.R387R|BAG6_ENST00000211379.5_Silent_p.R387R			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	393	4 X 29 AA approximate repeats.				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						TTGGGGGGGGCCGAGTCCCAT	0.557000													3	151					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62290017	62290017	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr11:62290017T>C	ENST00000378024.4	-	5	12146	c.11872A>G	c.(11872-11874)Aag>Gag	p.K3958E	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3958					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGGTCAGCCTTGGGCAGGTTC	0.498000													6	412					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51766595	51766595	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr15:51766595C>T	ENST00000251076.5	-	28	7443	c.7156G>A	c.(7156-7158)Gga>Aga	p.G2386R	DMXL2_ENST00000543779.2_Missense_Mutation_p.G2387R|DMXL2_ENST00000449909.3_Missense_Mutation_p.G1750R|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2386						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ACACCGCCTCCAAAAACAGCA	0.368000													8	87					0	0	1	0	0
RILPL1	353116	broad.mit.edu	37	12	123983204	123983204	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr12:123983204C>T	ENST00000376874.4	-	4	923	c.688G>A	c.(688-690)Gag>Aag	p.E230K	RILPL1_ENST00000340724.6_Missense_Mutation_p.E78K	NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	230					neuroprotection	cytosol				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		AGGTCTGCCTCCAGCTCCACC	0.627000													34	141					0	0	1	0	0
TUBB4B	10383	broad.mit.edu	37	9	140137441	140137441	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr9:140137441G>C	ENST00000340384.4	+	4	919	c.771G>C	c.(769-771)atG>atC	p.M257I		NM_006088.5	NP_006079.1	P68371	TBB2C_HUMAN	tubulin, beta 4B class IVb	257					'de novo' posttranslational protein folding|cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding										CTGTGAACATGGTCCCGTTTC	0.652000													5	36					0	0	1	0	0
DOCK6	57572	broad.mit.edu	37	19	11347158	11347158	+	Silent	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr19:11347158G>A	ENST00000294618.7	-	20	2267	c.2256C>T	c.(2254-2256)aaC>aaT	p.N752N	DOCK6_ENST00000319867.7_Silent_p.N56N	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	752	DHR-1.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CCTGCTCCACGTTGCCCTCGC	0.647000													3	9					0	0	1	0	0
RP11-114H24.7	0	broad.mit.edu	37	15	78208916	78208916	+	RNA	SNP	C	C	G	rs56290535	by1000genomes	TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr15:78208916C>G	ENST00000565869.1	+	0	53																											TCCAGATGTTCTCCTCCATCT	0.627000													3	92					0	0	1	0	0
GRIA3	2892	broad.mit.edu	37	X	122538740	122538740	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:122538740G>A	ENST00000264357.5	+	10	1767	c.1475G>A	c.(1474-1476)gGc>gAc	p.G492D	GRIA3_ENST00000371251.1_Missense_Mutation_p.G492D|GRIA3_ENST00000542149.1_Missense_Mutation_p.G492D|GRIA3_ENST00000541091.1_Missense_Mutation_p.G476D|GRIA3_ENST00000371256.5_Missense_Mutation_p.G492D	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	492					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	ATATGGAACGGCATGGTTGGG	0.378000													31	242					0	0	1	0	0
ZNF484	83744	broad.mit.edu	37	9	95610656	95610656	+	Missense_Mutation	SNP	C	C	T	rs139334933		TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr9:95610656C>T	ENST00000395505.2	-	3	397	c.305G>A	c.(304-306)cGt>cAt	p.R102H	ZNF484_ENST00000395506.3_Missense_Mutation_p.R140H|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000375495.3_Missense_Mutation_p.R138H|ZNF484_ENST00000332591.6_Missense_Mutation_p.R102H	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						GAAGACAACACGACTTAAAGG	0.368000													41	60					0	0	1	0	0
KLKB1	3818	broad.mit.edu	37	4	187173298	187173298	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr4:187173298A>G	ENST00000264690.6	+	11	1459	c.1272A>G	c.(1270-1272)atA>atG	p.I424M	KLKB1_ENST00000513864.1_Missense_Mutation_p.I424M	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	424	Peptidase S1.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GGTCACTCATAGGACACCAGT	0.522000													3	105					0	0	1	0	0
MPEG1	219972	broad.mit.edu	37	11	58979065	58979065	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr11:58979065A>G	ENST00000361050.3	-	1	1359	c.1274T>C	c.(1273-1275)aTc>aCc	p.I425T		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	425						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				CTCCTCGTGGATCTGGGATAA	0.537000													3	97					0	0	1	0	0
MPRIP	23164	broad.mit.edu	37	17	16979036	16979036	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr17:16979036T>C	ENST00000395811.5	+	2	225	c.136T>C	c.(136-138)Tat>Cat	p.Y46H	MPRIP_ENST00000341712.4_Missense_Mutation_p.Y46H|MPRIP_ENST00000395807.2_3'UTR|MPRIP_ENST00000444976.1_Missense_Mutation_p.Y46H|MPRIP_ENST00000395804.3_Missense_Mutation_p.Y46H	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	46	Interaction with F-actin (By similarity).|PH 1.					cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						AAAACCCATTTATGGCGGTTG	0.547000													5	121					0	0	1	0	0
ENPP3	5169	broad.mit.edu	37	6	131996232	131996232	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr6:131996232G>A	ENST00000414305.1	+	10	1103	c.775G>A	c.(775-777)Gca>Aca	p.A259T	ENPP3_ENST00000427148.2_3'UTR|ENPP3_ENST00000357639.3_Missense_Mutation_p.A259T|ENPP3_ENST00000543135.1_Missense_Mutation_p.A225T|ENPP3_ENST00000358229.5_Missense_Mutation_p.A259T			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	259	Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		GTGGCTGACAGCAATGTATCA	0.388000													11	40					0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126708270	126708270	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr3:126708270C>A	ENST00000251772.4	+	1	834	c.765C>A	c.(763-765)ttC>ttA	p.F255L	PLXNA1_ENST00000393409.2_Missense_Mutation_p.F278L			Q9UIW2	PLXA1_HUMAN	plexin A1	278	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		AGCACTTCTTCACGTCCAAGA	0.587000													4	185					1	1	1	1	0
MUC16	94025	broad.mit.edu	37	19	9087885	9087885	+	Silent	SNP	A	A	G			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr19:9087885A>G	ENST00000397910.4	-	1	4133	c.3930T>C	c.(3928-3930)ccT>ccC	p.P1310P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1310	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGTCTCTCCAGGAGCTGTCA	0.507000													4	62					0	0	1	0	0
GRAMD1A	57655	broad.mit.edu	37	19	35502409	35502409	+	Translation_Start_Site	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr19:35502409G>A	ENST00000504615.2	+	0	713				GRAMD1A_ENST00000411896.2_Missense_Mutation_p.R179H|GRAMD1A_ENST00000317991.5_Missense_Mutation_p.R186H|GRAMD1A_ENST00000599564.1_Missense_Mutation_p.R273H			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A							integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GCCCGTGACCGCTGCTTCCTC	0.617000													4	185					0	0	1	0	0
NUMA1	0	broad.mit.edu	37	11	71726290	71726290	+	Silent	SNP	T	T	C			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr11:71726290T>C	ENST00000393695.3	-	15	2590	c.2259A>G	c.(2257-2259)gaA>gaG	p.E753E	NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Silent_p.E753E|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	753					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GCTCCTTTCGTTCCCGCTTAT	0.612000			T	RARA	APL								3	94					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179641277	179641277	+	Missense_Mutation	SNP	T	T	A	rs150725992	byFrequency	TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr2:179641277T>A	ENST00000589042.1	-	28	5538	c.5314A>T	c.(5314-5316)Agt>Tgt	p.S1772C	TTN_ENST00000359218.5_Missense_Mutation_p.S1726C|TTN_ENST00000342992.6_Missense_Mutation_p.S1772C|TTN_ENST00000342175.6_Missense_Mutation_p.S1726C|TTN_ENST00000591111.1_Missense_Mutation_p.S1772C|TTN_ENST00000460472.2_Missense_Mutation_p.S1726C|TTN_ENST00000360870.5_Missense_Mutation_p.S1772C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1525	Ig-like 8.		S -> G.				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)			ATGATACCACTGTCTCTAGAA	0.428000													3	75					0	0	1	0	0
FUT8	2530	broad.mit.edu	37	14	66028460	66028460	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr14:66028460T>A	ENST00000360689.5	+	3	1906	c.179T>A	c.(178-180)tTg>tAg	p.L60*	FUT8_ENST00000557164.1_Intron|FUT8_ENST00000394585.1_Nonsense_Mutation_p.L60*|FUT8_ENST00000394586.2_Nonsense_Mutation_p.L60*|FUT8_ENST00000358307.2_Intron	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	60					in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		AATGAAGACTTGAGGCGAATG	0.428000													3	48					0	0	1	0	0
SH3RF1	57630	broad.mit.edu	37	4	170043326	170043326	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr4:170043326G>A	ENST00000284637.9	-	7	1612	c.1271C>T	c.(1270-1272)gCt>gTt	p.A424V	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	424	Poly-Ala.					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TCCCATTCCAGCAGCAGCAGC	0.597000													4	49					0	0	1	0	0
DLG3	1741	broad.mit.edu	37	X	69717042	69717042	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:69717042C>G	ENST00000194900.4	+	15	2227	c.1886C>G	c.(1885-1887)tCc>tGc	p.S629C	DLG3_ENST00000374355.3_Missense_Mutation_p.S292C|DLG3_ENST00000374360.3_Intron|DLG3_ENST00000461646.1_3'UTR|DLG3_ENST00000542398.1_Missense_Mutation_p.S146C			Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	606	Guanylate kinase-like.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity	p.S292C(1)		endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					GGAGTGACATCCAACACCAGT	0.498000													4	111					0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142224106	142224106	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr3:142224106C>T	ENST00000350721.4	-	29	5192	c.5071G>A	c.(5071-5073)Gga>Aga	p.G1691R	ATR_ENST00000383101.3_Missense_Mutation_p.G1627R	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1691	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						GCACTGACTCCGGCCACTCCA	0.388000								Other conserved DNA damage response genes					29	229					0	0	1	0	0
HSD17B4	3295	broad.mit.edu	37	5	118829578	118829578	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr5:118829578G>C	ENST00000504811.1	+	12	1064	c.880G>C	c.(880-882)Gtc>Ctc	p.V294L	HSD17B4_ENST00000509514.1_5'UTR|HSD17B4_ENST00000414835.2_Missense_Mutation_p.V129L|HSD17B4_ENST00000510025.1_Missense_Mutation_p.V245L|HSD17B4_ENST00000515320.1_Missense_Mutation_p.V251L|HSD17B4_ENST00000513628.1_Missense_Mutation_p.V132L|HSD17B4_ENST00000256216.6_Missense_Mutation_p.V269L	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	269	(3R)-hydroxyacyl-CoA dehydrogenase.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	TCCTGAGGCAGTCAAGGCTAA	0.473000													5	62					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30734516	30734516	+	Silent	SNP	C	C	G			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr16:30734516C>G	ENST00000262518.4	+	24	4510	c.4125C>G	c.(4123-4125)ctC>ctG	p.L1375L	SRCAP_ENST00000395059.2_Silent_p.L1313L|SRCAP_ENST00000344771.4_Silent_p.L1217L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1375	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	p.L1375L(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGCCTCTTCTCAAGCTGGTCC	0.602000													70	164					0	0	1	0	0
SFRP4	6424	broad.mit.edu	37	7	37955897	37955897	+	Silent	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr7:37955897G>A	ENST00000436072.2	-	1	620	c.243C>T	c.(241-243)taC>taT	p.Y81Y	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	81	FZ.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						AAATGGGCGCGTACATGGCAC	0.622000													3	53					0	0	1	0	0
SEL1L2	80343	broad.mit.edu	37	20	13912352	13912352	+	Silent	SNP	T	T	G			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr20:13912352T>G	ENST00000284951.5	-	3	254	c.180A>C	c.(178-180)gtA>gtC	p.V60V	SEL1L2_ENST00000378072.5_Silent_p.V60V|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	60						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TTTTATTGATTACATTACTAG	0.274000													3	34					0	0	1	0	0
SLC17A5	26503	broad.mit.edu	37	6	74354177	74354177	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr6:74354177C>A	ENST00000355773.5	-	2	512	c.244G>T	c.(244-246)Gcg>Tcg	p.A82S	SLC17A5_ENST00000481996.1_5'UTR|SLC17A5_ENST00000393019.3_Missense_Mutation_p.A82S	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	82					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCTGGACACGCCTTGGAAGTT	0.348000													10	35					2.27111e-07	2.37318e-07	1	1	0
SPTLC3	55304	broad.mit.edu	37	20	13134724	13134724	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr20:13134724A>G	ENST00000399002.2	+	10	1628	c.1354A>G	c.(1354-1356)Atc>Gtc	p.I452V	SPTLC3_ENST00000378194.4_3'UTR	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	452					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)	GGGATTCATTATCTATGGCAA	0.428000													7	54					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								30	72					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89351844	89351844	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr16:89351844T>C	ENST00000301030.4	-	9	1566	c.1106A>G	c.(1105-1107)aAg>aGg	p.K369R	ANKRD11_ENST00000378330.2_Missense_Mutation_p.K369R	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	369						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TCTGTAGTCCTTTTTCAATAG	0.453000													3	141					0	0	1	0	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000													3	62					0	0	1	0	0
TBP	6908	broad.mit.edu	37	6	170871043	170871043	+	Silent	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr6:170871043G>A	ENST00000392092.2	+	3	498	c.219G>A	c.(217-219)caG>caA	p.Q73Q	TBP_ENST00000540980.1_Silent_p.Q53Q|TBP_ENST00000230354.6_Silent_p.Q73Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	73	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q73Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcaacagcaacagcagc	0.562000													3	17					0	0	1	0	0
MCTS1	28985	broad.mit.edu	37	X	119739938	119739938	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:119739938G>A	ENST00000371315.3	+	3	705	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K	MCTS1_ENST00000371317.5_Missense_Mutation_p.E57K|MCTS1_ENST00000487133.1_3'UTR	NM_001137554.1	NP_001131026.1	Q9ULC4	MCTS1_HUMAN	malignant T cell amplified sequence 1	57					cell cycle|positive regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm	RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|stomach(1)|urinary_tract(1)	10						TTACAGCCATGAACATATAGA	0.299000													4	50					0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115380449	115380449	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr10:115380449C>T	ENST00000369358.4	-	25	3056	c.2812G>A	c.(2812-2814)Gtg>Atg	p.V938M	NRAP_ENST00000360478.3_Missense_Mutation_p.V895M|NRAP_ENST00000369360.3_Missense_Mutation_p.V903M|NRAP_ENST00000359988.3_Missense_Mutation_p.V930M			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	930						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		ATCCACTTCACATCTGCCCTG	0.478000													28	165					0	0	1	0	0
PROKR1	10887	broad.mit.edu	37	2	68873428	68873428	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr2:68873428G>A	ENST00000303786.3	+	2	895	c.475G>A	c.(475-477)Gcc>Acc	p.A159T	PROKR1_ENST00000394342.2_Missense_Mutation_p.A159T			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	159						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCTGGCCATCGCCATTGACAG	0.592000													20	95					0	0	1	0	0
NEURL	0	broad.mit.edu	37	10	105349295	105349295	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr10:105349295G>A	ENST00000369780.4	+	5	1773	c.1364G>A	c.(1363-1365)gGt>gAt	p.G455D	NEURL_ENST00000369777.2_Missense_Mutation_p.G438D|SH3PXD2A_ENST00000427662.2_Intron	NM_004210.4	NP_004201.3	O76050	NEU1A_HUMAN		455					nervous system development	perinuclear region of cytoplasm	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		GCCGAGCGGGGTATCCCATCA	0.652000													11	112					0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39761740	39761740	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr12:39761740G>C	ENST00000395670.3	-	4	964	c.545C>G	c.(544-546)aCt>aGt	p.T182S	KIF21A_ENST00000544797.2_Missense_Mutation_p.T182S|KIF21A_ENST00000361418.5_Missense_Mutation_p.T182S|KIF21A_ENST00000361961.3_Missense_Mutation_p.T182S|KIF21A_ENST00000541463.2_Missense_Mutation_p.T182S			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	182	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				AATTCCTCCAGTTGAATCTTC	0.313000													17	171					0	0	1	0	0
JAG1	182	broad.mit.edu	37	20	10624439	10624439	+	Silent	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr20:10624439G>A	ENST00000254958.5	-	20	2960	c.2445C>T	c.(2443-2445)ccC>ccT	p.P815P	JAG1_ENST00000423891.2_Silent_p.P656P	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	815	EGF-like 15; calcium-binding (Potential).				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TTCTGCAGTCGGGCCCAGCAA	0.498000									Alagille Syndrome				19	39					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41552258	41552258	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr8:41552258G>A	ENST00000396942.1	-	28	3262	c.3179C>T	c.(3178-3180)cCg>cTg	p.P1060L	ANK1_ENST00000352337.4_Missense_Mutation_p.P1060L|ANK1_ENST00000396945.1_Missense_Mutation_p.P1060L|ANK1_ENST00000379758.2_Missense_Mutation_p.P1060L|ANK1_ENST00000289734.7_Missense_Mutation_p.P1060L|ANK1_ENST00000265709.8_Missense_Mutation_p.P1101L|ANK1_ENST00000347528.4_Missense_Mutation_p.P1060L			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1060					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GAAGTACAGCGGGAAGTCGGT	0.602000													12	66					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30732740	30732740	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr16:30732740C>G	ENST00000262518.4	+	21	3869	c.3484C>G	c.(3484-3486)Ccg>Gcg	p.P1162A	SRCAP_ENST00000395059.2_Missense_Mutation_p.P1162A|SRCAP_ENST00000344771.4_Intron	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1162	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGTGCCAGCTCCGACTCCTGC	0.612000													32	80					0	0	1	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135825112	135825112	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr3:135825112G>A	ENST00000264977.3	+	13	3894	c.3277G>A	c.(3277-3279)Gag>Aag	p.E1093K	PPP2R3A_ENST00000469270.1_3'UTR|PPP2R3A_ENST00000490467.1_Missense_Mutation_p.E357K|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.E472K	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	1093					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGCCGCTGAGGAGTATGAGAC	0.463000													28	58					0	0	1	0	0
PYROXD1	79912	broad.mit.edu	37	12	21615672	21615672	+	Splice_Site	SNP	A	A	G			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr12:21615672A>G	ENST00000538582.1	+	10	1533		c.e10-1		PYROXD1_ENST00000240651.9_Splice_Site			Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 1								oxidoreductase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						AATGTTGTTTAGTTTGATCTA	0.373000													20	70					0	0	1	0	0
MTFMT	123263	broad.mit.edu	37	15	65312542	65312542	+	Silent	SNP	C	C	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr15:65312542C>T	ENST00000220058.4	-	5	727	c.714G>A	c.(712-714)gcG>gcA	p.A238A		NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	238						mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	CACCGTAAGTCGCCCCCTCCA	0.413000													4	24					0	0	1	0	0
MLPH	79083	broad.mit.edu	37	2	238449504	238449504	+	Silent	SNP	C	C	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr2:238449504C>T	ENST00000264605.3	+	11	1644	c.1350C>T	c.(1348-1350)gaC>gaT	p.D450D	MLPH_ENST00000409373.1_Intron|MLPH_ENST00000445024.2_Silent_p.D450D|MLPH_ENST00000338530.4_Silent_p.D422D|MLPH_ENST00000410032.1_Silent_p.D307D|MLPH_ENST00000468178.1_3'UTR	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	450							metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		ACCCTGGGGACCCCGTCCAGT	0.607000													8	24					0	0	1	0	0
ITIH4	3700	broad.mit.edu	37	3	52850942	52850942	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr3:52850942G>A	ENST00000266041.4	-	21	2525	c.2429C>T	c.(2428-2430)tCt>tTt	p.S810F	ITIH4_ENST00000406595.1_Missense_Mutation_p.S780F|ITIH4_ENST00000346281.5_Missense_Mutation_p.S794F|ITIH4_ENST00000485816.1_Missense_Mutation_p.S815F	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	810					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CTTGTACGCAGAGCTTCTTCG	0.577000													32	212					0	0	1	0	0
DRD5	0	broad.mit.edu	37	4	9784872	9784872	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr4:9784872G>A	ENST00000304374.2	+	1	1615	c.1219G>A	c.(1219-1221)Gca>Aca	p.A407T		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	407					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CAAGGAAATCGCAGCTGCCTA	0.582000													4	68					0	0	1	0	0
LAMC3	10319	broad.mit.edu	37	9	133932363	133932363	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr9:133932363C>T	ENST00000361069.4	+	12	2120	c.1987C>T	c.(1987-1989)Ctt>Ttt	p.L663F	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	663	Laminin IV type A.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCGGCCAGGGCTTTCCCCGCC	0.607000													18	126					0	0	1	0	0
C16orf46	123775	broad.mit.edu	37	16	81094882	81094882	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr16:81094882C>T	ENST00000378611.4	-	3	1187	c.1072G>A	c.(1072-1074)Gcc>Acc	p.A358T	RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000299578.5_Missense_Mutation_p.A358T	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	358										NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						TCCTGCTTGGCCTTTGGGAGA	0.498000													12	113					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126240610	126240610	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr4:126240610T>C	ENST00000394329.3	+	1	3057	c.3044T>C	c.(3043-3045)tTc>tCc	p.F1015S		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1015	Cadherin 10.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AATTCTCGATTCTTTAAAGTA	0.388000													5	118					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108380864	108380864	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr11:108380864G>T	ENST00000265843.4	-	6	5480	c.5370C>A	c.(5368-5370)caC>caA	p.H1790Q	EXPH5_ENST00000525344.1_Missense_Mutation_p.H1783Q|EXPH5_ENST00000428840.1_Missense_Mutation_p.H1714Q|EXPH5_ENST00000443411.1_Missense_Mutation_p.H1602Q	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1790					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AACGATAGAGGTGTGGCTCAG	0.463000													13	123					2.48551e-13	2.62673e-13	1	1	0
RAB17	64284	broad.mit.edu	37	2	238483770	238483770	+	Splice_Site	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr2:238483770G>A	ENST00000264601.3	-	6	1160	c.529_splice	c.e6-1	p.A177_splice	RAB17_ENST00000409576.1_Intron|RAB17_ENST00000409822.1_Splice_Site_p.A50_splice|RAB17_ENST00000538644.1_Splice_Site_p.A50_splice	NM_022449.3	NP_071894.1	Q9H0T7	RAB17_HUMAN	RAB17, member RAS oncogene family	177					protein transport|small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)	4		Renal(207;0.00272)|Breast(86;0.00297)|all_hematologic(139;0.182)|Ovarian(221;0.221)		Epithelial(121;9.36e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.26e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000354)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.026)		GTAGCTCTTGGGCTGTGAACA	0.667000													16	31					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			18	9					0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130825275	130825275	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr5:130825275T>C	ENST00000509018.1	-	15	2009	c.1804A>G	c.(1804-1806)Act>Gct	p.T602A	RAPGEF6_ENST00000296859.6_Missense_Mutation_p.T602A|FNIP1_ENST00000514667.1_Missense_Mutation_p.T652A|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.T602A|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.T317A|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.T602A|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.T602A|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.T602A	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	602	PDZ.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GCAAGATGAGTATTATTCCTC	0.269000													7	13					0	0	1	0	0
PCDHB6	0	broad.mit.edu	37	5	140531706	140531706	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr5:140531706G>T	ENST00000231136.1	+	1	1868	c.1868G>T	c.(1867-1869)cGc>cTc	p.R623L	PCDHB6_ENST00000543635.1_Missense_Mutation_p.R487L	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		623	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCGAGGTGCGCACCGCCAGG	0.687000													4	86					0.150653	0.153965	1	1	0
SGSH	6448	broad.mit.edu	37	17	78184761	78184761	+	Silent	SNP	G	G	A	rs149139346	byFrequency	TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr17:78184761G>A	ENST00000326317.6	-	8	1085	c.999C>T	c.(997-999)taC>taT	p.Y333Y	SGSH_ENST00000534910.1_Silent_p.Y130Y	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	333					proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CAAAGATGGCGTAGCTGGGGT	0.652000													4	80					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089322	9089322	+	Silent	SNP	C	C	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr19:9089322C>T	ENST00000397910.4	-	1	2696	c.2493G>A	c.(2491-2493)tcG>tcA	p.S831S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	831	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACTCTCTGACGATTCTGAAG	0.498000													40	217					0	0	1	0	0
GEMIN8	54960	broad.mit.edu	37	X	14027048	14027048	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:14027048A>G	ENST00000380523.4	-	5	1031	c.713T>C	c.(712-714)aTc>aCc	p.I238T	GEMIN8_ENST00000398355.3_Missense_Mutation_p.I238T	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	238					spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						CTTCAGGGGGATGACCGGCCA	0.552000													3	101					0	0	1	0	0
EIF2B4	0	broad.mit.edu	37	2	27591981	27591981	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr2:27591981G>A	ENST00000493344.2	-	3	685	c.373C>T	c.(373-375)Cgt>Tgt	p.R125C	EIF2B4_ENST00000451130.2_Missense_Mutation_p.R124C|EIF2B4_ENST00000445933.2_Missense_Mutation_p.R103C|EIF2B4_ENST00000347454.4_Missense_Mutation_p.R104C			Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa	104					myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGGCTCGACGCTCAGCCCGA	0.602000													59	108					0	0	1	0	0
PLAC1L	0	broad.mit.edu	37	11	59810975	59810975	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr11:59810975T>A	ENST00000278855.2	+	2	283	c.98T>A	c.(97-99)gTc>gAc	p.V33D	PLAC1L_ENST00000532905.1_Missense_Mutation_p.V2D	NM_173801.3	NP_776162.2	Q86WS3	PLACL_HUMAN		33				V -> A (in Ref. 1; BAC04191).		extracellular region				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						TGGTTGATGGTCTCAGTTATC	0.393000													9	41					0	0	1	0	0
PCDHA11	0	broad.mit.edu	37	5	140249832	140249832	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr5:140249832G>A	ENST00000398640.2	+	1	1144	c.1144G>A	c.(1144-1146)Gga>Aga	p.G382R	PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGTCAACGGACAGGTGAC	0.602000													16	113					0	0	1	0	0
ACKR6	0	broad.mit.edu	37	17	6381927	6381927	+	Silent	SNP	T	T	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr17:6381927T>A	ENST00000262483.8	-	7	804	c.717A>T	c.(715-717)cgA>cgT	p.R239R	ACKR6_ENST00000421306.3_Silent_p.R203R	NM_031220.3	NP_112497.2																					CCTGGTTGGCTCGCTCGATGA	0.632000													10	50					0	0	1	0	0
ATAD3C	219293	broad.mit.edu	37	1	1386075	1386075	+	Silent	SNP	C	C	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr1:1386075C>T	ENST00000378785.2	+	1	1007	c.12C>T	c.(10-12)gaC>gaT	p.D4D		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	4							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TGTCAAAGGACGCCCTGAATC	0.642000													4	18					0	0	1	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120355176	120355176	+	Silent	SNP	C	C	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr11:120355176C>T	ENST00000397843.2	+	40	4750	c.4584C>T	c.(4582-4584)tgC>tgT	p.C1528C	ARHGEF12_ENST00000356641.3_Silent_p.C1509C|ARHGEF12_ENST00000532993.1_Silent_p.C1425C	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1528					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CCATTCTTTGCCAAAGGCTGG	0.378000			T	MLL	AML								5	92					0	0	1	0	0
SLITRK2	84631	broad.mit.edu	37	X	144904329	144904329	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:144904329C>A	ENST00000370490.1	+	1	4641	c.386C>A	c.(385-387)aCc>aAc	p.T129N	SLITRK2_ENST00000447897.2_Missense_Mutation_p.T129N|SLITRK2_ENST00000428560.2_Missense_Mutation_p.T129N|SLITRK2_ENST00000434188.2_Missense_Mutation_p.T129N|SLITRK2_ENST00000413937.2_Missense_Mutation_p.T129N			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	129						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGAGGACACCTTCCTAGGC	0.502000													4	58					0.00909568	0.00939887	1	1	0
DCAF12L2	340578	broad.mit.edu	37	X	125299120	125299120	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:125299120C>T	ENST00000538699.1	-	2	868	c.788G>A	c.(787-789)cGc>cAc	p.R263H	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.R263H	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	263										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CCGTACCTTGCGGTTGCTGGG	0.637000													5	54					0	0	1	0	0
TIMD4	91937	broad.mit.edu	37	5	156378737	156378737	+	Silent	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr5:156378737G>A	ENST00000274532.2	-	3	521	c.465C>T	c.(463-465)acC>acT	p.T155T	TIMD4_ENST00000407087.3_Silent_p.T155T	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	155	Thr-rich.					integral to membrane				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)			GTCGGGTGGTGGTGGGGCTTG	0.532000													10	367					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124389482	124389482	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr10:124389482G>A	ENST00000368909.3	+	44	5514	c.5408G>A	c.(5407-5409)cGc>cAc	p.R1803H	DMBT1_ENST00000344338.3_Missense_Mutation_p.R1793H|DMBT1_ENST00000368956.2_Missense_Mutation_p.R1175H|DMBT1_ENST00000359586.6_Missense_Mutation_p.R523H|DMBT1_ENST00000368955.3_Missense_Mutation_p.R1793H|DMBT1_ENST00000330163.4_Missense_Mutation_p.R1175H|DMBT1_ENST00000338354.3_Missense_Mutation_p.R1803H	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1803	CUB 1.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCTGGTTATCGCATAAACCTG	0.473000													5	142					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228529180	228529180	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr1:228529180C>T	ENST00000570156.2	+	85	20844	c.20770C>T	c.(20770-20772)Cgc>Tgc	p.R6924C	OBSCN_ENST00000284548.11_Missense_Mutation_p.R5967C|OBSCN_ENST00000366707.4_Missense_Mutation_p.R3601C|OBSCN_ENST00000366709.4_Missense_Mutation_p.R3086C|OBSCN_ENST00000422127.1_Missense_Mutation_p.R5967C	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5967					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGGGATGACCGCGCCTTCGA	0.637000													12	21					0	0	1	0	0
SPATA18	132671	broad.mit.edu	37	4	52927044	52927044	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr4:52927044G>A	ENST00000295213.4	+	3	664	c.290G>A	c.(289-291)aGc>aAc	p.S97N	SPATA18_ENST00000419395.2_Missense_Mutation_p.S97N|SPATA18_ENST00000506829.1_Intron	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	97					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TCTGTTGACAGCAAGGTCCCC	0.478000													3	51					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48313892	48313892	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr7:48313892T>G	ENST00000435803.1	+	17	4653	c.4629T>G	c.(4627-4629)atT>atG	p.I1543M		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1543					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTCAAAATATTTGGCTTCATT	0.299000													6	56					0	0	1	0	0
PPP2R2C	5522	broad.mit.edu	37	4	6380248	6380248	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr4:6380248G>A	ENST00000335585.5	-	3	243	c.220C>T	c.(220-222)Cag>Tag	p.Q74*	PPP2R2C_ENST00000506140.1_Nonsense_Mutation_p.Q67*|PPP2R2C_ENST00000314348.8_Intron|PPP2R2C_ENST00000515571.1_Nonsense_Mutation_p.Q57*|PPP2R2C_ENST00000507294.1_Nonsense_Mutation_p.Q67*|PPP2R2C_ENST00000382599.4_Nonsense_Mutation_p.Q74*	NM_181876.2	NP_870991.1	Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	74					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						TCGTGGCTCTGGAAAGTGCTG	0.577000													4	140					0	0	1	0	0
GABRA3	2556	broad.mit.edu	37	X	151336862	151336862	+	Silent	SNP	C	C	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:151336862C>T	ENST00000370314.4	-	10	1555	c.1317G>A	c.(1315-1317)gtG>gtA	p.V439V	GABRA3_ENST00000535043.1_Silent_p.V439V|RP11-329E24.6_ENST00000453915.1_RNA|GABRA3_ENST00000370311.1_Silent_p.V439V	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	439					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGCTGTCCTGCACGTAGGTGG	0.522000													80	203					0	0	1	0	0
TBP	6908	broad.mit.edu	37	6	170871082	170871082	+	Silent	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr6:170871082G>A	ENST00000392092.2	+	3	537	c.258G>A	c.(256-258)caG>caA	p.Q86Q	TBP_ENST00000540980.1_Silent_p.Q66Q|TBP_ENST00000230354.6_Silent_p.Q86Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	86	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q86Q(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.612000													3	23					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148048318	148048318	+	Splice_Site	SNP	A	A	C			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:148048318A>C	ENST00000370460.2	+	14	3392		c.e14-1		AFF2_ENST00000342251.3_Splice_Site|AFF2_ENST00000370457.5_Splice_Site|AFF2_ENST00000286437.5_Splice_Site	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2						brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTTTTCCCAGGAGGGAGAC	0.443000													5	155					0	0	1	0	0
GDPD2	54857	broad.mit.edu	37	X	69652260	69652260	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:69652260G>A	ENST00000453994.2	+	14	1925	c.1564G>A	c.(1564-1566)Gac>Aac	p.D522N	GDPD2_ENST00000538649.1_Missense_Mutation_p.D392N|GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000536730.1_Missense_Mutation_p.D392N|GDPD2_ENST00000374382.3_Missense_Mutation_p.D471N	NM_001171192.1	NP_001164663.1	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	471					glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					CACCACCAACGACTGCCAGCT	0.512000													49	106					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63042617	63042617	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr15:63042617T>C	ENST00000561311.1	+	33	4366	c.4136T>C	c.(4135-4137)tTg>tCg	p.L1379S	TLN2_ENST00000306829.6_Missense_Mutation_p.L1379S			Q9Y4G6	TLN2_HUMAN	talin 2	1379					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AAGGGGATGTTGGACAATCCT	0.403000													3	127					0	0	1	0	0
REPS1	85021	broad.mit.edu	37	6	139266690	139266690	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr6:139266690delT	ENST00000450536.2	-	3	996	c.422delA	c.(421-423)agfs	p.K141fs	REPS1_ENST00000415951.2_Frame_Shift_Del_p.K141fs|REPS1_ENST00000367663.4_Frame_Shift_Del_p.K141fs|REPS1_ENST00000258062.5_Frame_Shift_Del_p.K141fs|REPS1_ENST00000409812.2_Frame_Shift_Del_p.K141fs			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	141						coated pit|plasma membrane	calcium ion binding|SH3 domain binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TACGGATCCCTTTTTCACTTG	0.478													8	327	---	---	---	---					
GRM1	2911	broad.mit.edu	37	6	146350671	146350672	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr6:146350671_146350672insT	ENST00000392299.2	+	2	488_489	c.18_19insT	c.(16-21)ttttttfs	p.FF6fs	GRM1_ENST00000282753.1_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000355289.4_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000507907.1_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000492807.2_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000361719.2_Frame_Shift_Ins_p.FF6fs			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	6					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GGCTCCTTTTGTTTTTTTTCCC	0.644													7	154	---	---	---	---					
PTPRZ1	5803	broad.mit.edu	37	7	121679632	121679635	+	Frame_Shift_Del	DEL	AAAT	AAAT	-			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr7:121679632_121679635delAAAT	ENST00000393386.2	+	20	6038_6041	c.5627_5630delAAAT	c.(5626-5631)aafs	p.KI1876fs	PTPRZ1_ENST00000449182.1_Frame_Shift_Del_p.KI1009fs	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1876	Tyrosine-protein phosphatase 1.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AGAAACACAAAAATAAAAAAGGTG	0.382													8	45	---	---	---	---					
OR4A16	81327	broad.mit.edu	37	11	55110739	55110740	+	Frame_Shift_Ins	INS	-	-	A	rs77509752		TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr11:55110739_55110740insA	ENST00000314721.2	+	1	113_114	c.63_64insA	c.(61-66)gtaaaafs	p.VK21fs		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V21V(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						ATCCTGATGTGAAAAAAACATT	0.416													18	62	---	---	---	---					
CSRP2	1466	broad.mit.edu	37	12	77253345	77253347	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr12:77253345_77253347delCTT	ENST00000311083.5	-	5	608_610	c.485_487delAAG	c.(484-489)ggt>g	p.EG162del	CSRP2_ENST00000547435.1_In_Frame_Del_p.EG162del|CSRP2_ENST00000546966.1_In_Frame_Del_p.EG162del|CSRP2_ENST00000552330.1_In_Frame_Del_p.EG212del	NM_001321.1	NP_001312.1	Q16527	CSRP2_HUMAN	cysteine and glycine-rich protein 2	162	LIM zinc-binding 2.				multicellular organismal development	nucleus	zinc ion binding			kidney(1)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)	8						TAGATTTCACCTTCTTTTTCAGT	0.374													9	25	---	---	---	---					
SRRM2	23524	broad.mit.edu	37	16	2819161	2819163	+	In_Frame_Del	DEL	TCT	TCT	-	rs149101693	byFrequency	TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr16:2819161_2819163delTCT	ENST00000301740.8	+	12	8446_8448	c.7897_7899delTCT	c.(7897-7899)del	p.S2648del	SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2648	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						ctcctcttcctcttcttcttctt	0.581													16	48	---	---	---	---					
CTD-2377D24.8	0	broad.mit.edu	37	17	46777522	46777524	+	RNA	DEL	GGA	GGA	-			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr17:46777522_46777524delGGA	ENST00000575202.1	+	0	51																											ggaggaagggggaggaggaggag	0.537													2	4	---	---	---	---					
RP4-777D9.2	0	broad.mit.edu	37	20	21143813	21143814	+	RNA	INS	-	-	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr20:21143813_21143814insT	ENST00000591761.1	-	0	5051				PLK1S1_ENST00000457464.1_RNA																							AAGCCATTCAATTTTTTTTTTC	0.371													9	91	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76939638	76939639	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:76939638_76939639insT	ENST00000373344.5	-	9	1323_1324	c.1109_1110insA	c.(1108-1110)tgtfs	p.C370fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.C332fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	370					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AAAATTTAACATAACTGGAGTT	0.371			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						64	130	---	---	---	---