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
LAMB4	22798	broad.mit.edu	37	7	107688373	107688373	+	Missense_Mutation	SNP	C	C	A	rs145141539		TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr7:107688373C>A	ENST00000388781.3	-	28	4389	c.4306G>T	c.(4306-4308)Gtt>Ttt	p.V1436F	LAMB4_ENST00000205386.4_Missense_Mutation_p.V1436F|LAMB4_ENST00000388780.3_Missense_Mutation_p.V1436F	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1436	Domain I.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						AACCCACGAACCTGTTTGTCC	0.408000													16	52					1.15088e-07	1.54054e-07	1	1	0
AFP	174	broad.mit.edu	37	4	74315176	74315176	+	Missense_Mutation	SNP	G	G	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr4:74315176G>A	ENST00000395792.2	+	9	1283	c.1183G>A	c.(1183-1185)Gat>Aat	p.D395N	AFP_ENST00000226359.2_Missense_Mutation_p.D395N	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	395	Albumin 2.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGAATGCCAAGATAAAGGAGT	0.373000									Alpha-Fetoprotein, Hereditary Persistence of				7	47					0	0	1	0	0
EXOC3L1	283849	broad.mit.edu	37	16	67220492	67220492	+	Missense_Mutation	SNP	C	C	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr16:67220492C>T	ENST00000314586.6	-	8	1593	c.1353G>A	c.(1351-1353)atG>atA	p.M451I		NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	451					exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						CTGACAGTGCCATGCCATGCA	0.567000													20	23					0	0	1	0	0
KCNA4	3739	broad.mit.edu	37	11	30033789	30033789	+	Missense_Mutation	SNP	T	T	C			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr11:30033789T>C	ENST00000328224.6	-	2	1670	c.437A>G	c.(436-438)gAc>gGc	p.D146G		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	146						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						ATCACCATGGTCATCTTCACT	0.537000													6	42					0	0	1	0	0
SCML2	10389	broad.mit.edu	37	X	18265997	18265997	+	Missense_Mutation	SNP	C	C	G			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chrX:18265997C>G	ENST00000251900.4	-	12	1621	c.1462G>C	c.(1462-1464)Gaa>Caa	p.E488Q	SCML2_ENST00000398048.3_Missense_Mutation_p.E224Q	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	488					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					GTTACATCTTCTTTTGCTGTT	0.373000													9	39					0	0	1	0	0
AGAP10	728127	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	T	C			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr10:47207813T>C	ENST00000355232.3	-	5	3482	c.471_splice	c.e5+1	p.H157_splice	AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice|RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice					ArfGAP with GTPase domain, ankyrin repeat and PH domain 10									p.H228R(20)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TTTACTTACATGGTTTGTACA	0.294000													3	17					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82578939	82578939	+	Missense_Mutation	SNP	T	T	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr7:82578939T>A	ENST00000423517.2	-	6	11302	c.10965A>T	c.(10963-10965)aaA>aaT	p.K3655N	PCLO_ENST00000437081.1_Missense_Mutation_p.K375N|PCLO_ENST00000333891.8_Missense_Mutation_p.K3655N	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3586					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GATGCAGTACTTTCTGTGGAC	0.473000													35	126					0	0	1	0	0
TBX10	347853	broad.mit.edu	37	11	67400442	67400442	+	Missense_Mutation	SNP	C	C	G			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr11:67400442C>G	ENST00000335385.3	-	5	769	c.682G>C	c.(682-684)Gtg>Ctg	p.V228L		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	228					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						TAGGCTGTCACTGCTGTGAAC	0.592000													20	154					0	0	1	0	0
UCK2	7371	broad.mit.edu	37	1	165872427	165872427	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr1:165872427G>T	ENST00000367879.4	+	5	811	c.508G>T	c.(508-510)Gac>Tac	p.D170Y	UCK2_ENST00000479872.1_3'UTR|UCK2_ENST00000372212.4_Missense_Mutation_p.G122V	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	170					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					AGTATTAAGGGACATCAGCGA	0.498000													62	70					2.01871e-26	3.51981e-26	1	1	0
FBN2	2201	broad.mit.edu	37	5	127800598	127800598	+	Silent	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr5:127800598C>A	ENST00000508053.1	-	12	1619	c.645G>T	c.(643-645)ccG>ccT	p.P215P	FBN2_ENST00000508989.1_Silent_p.P182P|FBN2_ENST00000262464.4_Silent_p.P215P			P35556	FBN2_HUMAN	fibrillin 2	215	TB 1.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GAGTGAAACACGGGCCTGTCC	0.493000													23	33					2.21704e-12	3.35019e-12	1	1	0
PLD1	5337	broad.mit.edu	37	3	171410234	171410234	+	Splice_Site	SNP	T	T	G			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr3:171410234T>G	ENST00000356327.5	-	13	1298		c.e13-2		PLD1_ENST00000340989.4_Splice_Site|PLD1_ENST00000351298.4_Splice_Site|PLD1_ENST00000342215.6_Splice_Site	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific						cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TCCTTGTTGCTGTCACAGGAG	0.398000													5	46					0	0	1	0	0
SAMD12	401474	broad.mit.edu	37	8	119391764	119391764	+	Silent	SNP	C	C	T	rs151168755	byFrequency	TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr8:119391764C>T	ENST00000314727.4	-	4	634	c.498G>A	c.(496-498)ggG>ggA	p.G166G	SAMD12_ENST00000409003.4_Intron|AC023590.1_ENST00000430457.1_Intron|SAMD12_ENST00000527515.1_Intron	NM_207506.2	NP_997389.2	Q8N8I0	SAM12_HUMAN	sterile alpha motif domain containing 12	166										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			TTCTAATCTCCCCATCCATCC	0.418000													6	49					0	0	1	0	0
LHX3	8022	broad.mit.edu	37	9	139090759	139090759	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr9:139090759C>A	ENST00000371746.3	-	4	734	c.616G>T	c.(616-618)Gtg>Ttg	p.V206L	LHX3_ENST00000371748.5_Missense_Mutation_p.V201L	NM_014564.3	NP_055379.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	201					inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		CTGACCTGCACCACGCGCATG	0.741000													9	9					1.12685e-05	1.36832e-05	1	1	0
ZSWIM5	57643	broad.mit.edu	37	1	45671439	45671439	+	Missense_Mutation	SNP	A	A	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr1:45671439A>T	ENST00000359600.5	-	1	789	c.584T>A	c.(583-585)gTg>gAg	p.V195E	ZSWIM5_ENST00000464588.1_Intron	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	195							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GACTTGCAGCACGTTCTCCAC	0.746000													2	4					0	0	1	0	0
ZNF266	10781	broad.mit.edu	37	19	9525380	9525380	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr19:9525380C>A	ENST00000592904.1	-	5	2297	c.221G>T	c.(220-222)gGa>gTa	p.G74V	ZNF266_ENST00000361151.1_Missense_Mutation_p.G74V|ZNF266_ENST00000592292.1_Missense_Mutation_p.G74V|ZNF266_ENST00000590306.1_Missense_Mutation_p.G74V|ZNF266_ENST00000588933.1_Missense_Mutation_p.G74V|ZNF266_ENST00000588221.1_Missense_Mutation_p.G74V|ZNF266_ENST00000361451.2_Missense_Mutation_p.G74V			Q14584	ZN266_HUMAN	zinc finger protein 266	74					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						GACCTCCCCTCCGTTGTGGCT	0.418000													25	29					1.1804e-14	1.8754e-14	1	1	0
NRXN1	9378	broad.mit.edu	37	2	50699546	50699546	+	Missense_Mutation	SNP	G	G	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr2:50699546G>A	ENST00000404971.1	-	17	4593	c.3254C>T	c.(3253-3255)gCc>gTc	p.A1085V	NRXN1_ENST00000401669.2_Missense_Mutation_p.A1045V|NRXN1_ENST00000401710.1_Missense_Mutation_p.A54V|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406316.2_Missense_Mutation_p.A1045V|NRXN1_ENST00000406859.3_Missense_Mutation_p.A1045V|NRXN1_ENST00000402717.3_Missense_Mutation_p.A1037V|NRXN1_ENST00000405472.3_Missense_Mutation_p.A1037V	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1045	EGF-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.A1086D(1)|p.A1045D(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCCTTCTTTGGCATGTACAAG	0.423000													6	25					0	0	1	0	0
IFNA16	3449	broad.mit.edu	37	9	21217276	21217276	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr9:21217276G>T	ENST00000380216.1	-	1	34	c.29C>A	c.(28-30)gCc>gAc	p.A10D		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	10					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		CACCAGCACGGCCATCAGTAA	0.498000													29	37					5.61819e-17	9.09611e-17	1	1	0
ZNF281	23528	broad.mit.edu	37	1	200377053	200377053	+	Missense_Mutation	SNP	T	T	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr1:200377053T>A	ENST00000294740.2	-	2	1905	c.1781A>T	c.(1780-1782)aAa>aTa	p.K594I	ZNF281_ENST00000367353.1_Missense_Mutation_p.K594I|ZNF281_ENST00000367352.3_Missense_Mutation_p.K558I	NM_012482.3	NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	594					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						ATGACAAGATTTAATTTCAGC	0.398000													4	44					0	0	1	0	0
SMG6	23293	broad.mit.edu	37	17	2091701	2091701	+	Missense_Mutation	SNP	G	G	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr17:2091701G>A	ENST00000544865.1	-	11	3395	c.2885C>T	c.(2884-2886)tCc>tTc	p.S962F	SMG6_ENST00000536871.2_Missense_Mutation_p.S85F|SMG6_ENST00000354901.4_Missense_Mutation_p.S85F|SMG6_ENST00000263073.5_Missense_Mutation_p.S993F			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	993					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ACCTTTGGCGGACTCCTTAAG	0.582000													12	48					0	0	1	0	0
OSBP	5007	broad.mit.edu	37	11	59377944	59377944	+	Silent	SNP	G	G	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr11:59377944G>A	ENST00000263847.1	-	2	960	c.481C>T	c.(481-483)Ctg>Ttg	p.L161L		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	161	PH.				lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CTAGCTTTCAGATGGTAGGTC	0.557000													19	56					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	41988961	41988961	+	Nonsense_Mutation	SNP	A	A	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr15:41988961A>T	ENST00000219905.7	+	3	1934	c.1753A>T	c.(1753-1755)Aga>Tga	p.R585*	MGA_ENST00000570161.1_Nonsense_Mutation_p.R585*|MGA_ENST00000566586.1_Nonsense_Mutation_p.R585*|MGA_ENST00000389936.4_Nonsense_Mutation_p.R585*|MGA_ENST00000545763.1_Nonsense_Mutation_p.R585*	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	585						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GGACTTGGGCAGAAAGAGAAC	0.428000													3	2					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237947215	237947215	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr1:237947215C>A	ENST00000366574.2	+	90	12520	c.12203C>A	c.(12202-12204)tCt>tAt	p.S4068Y	RYR2_ENST00000360064.6_Missense_Mutation_p.S4074Y|RYR2_ENST00000542537.1_Missense_Mutation_p.S4052Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4068					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTTCTTTTGTCTTGTGCGGAG	0.512000													19	10					6.94344e-10	9.9192e-10	1	1	0
BRD1	23774	broad.mit.edu	37	22	50167894	50167894	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr22:50167894C>A	ENST00000216267.8	-	12	3650	c.3164G>T	c.(3163-3165)aGt>aTt	p.S1055I	BRD1_ENST00000404034.1_Missense_Mutation_p.S1055I|BRD1_ENST00000342989.5_Missense_Mutation_p.S781I|BRD1_ENST00000404760.1_Missense_Mutation_p.S1186I|BRD1_ENST00000457780.2_3'UTR|BRD1_ENST00000542442.1_Missense_Mutation_p.S743I	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	1055					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GTCAATGTCACTGAGGTCGCT	0.547000													48	207					6.08268e-21	1.02382e-20	1	1	0
SLC52A2	79581	broad.mit.edu	37	8	145584054	145584054	+	Missense_Mutation	SNP	C	C	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr8:145584054C>T	ENST00000532887.1	+	3	1485	c.902C>T	c.(901-903)tCc>tTc	p.S301F	SLC52A2_ENST00000540505.1_Missense_Mutation_p.S213F|SLC52A2_ENST00000329994.2_Missense_Mutation_p.S301F|SLC52A2_ENST00000530047.1_Missense_Mutation_p.S301F|SLC52A2_ENST00000527078.1_Missense_Mutation_p.S301F|SLC52A2_ENST00000402965.1_Missense_Mutation_p.S301F|SLC52A2_ENST00000526752.1_Intron			Q9HAB3	RFT3_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	301						integral to plasma membrane	receptor activity|riboflavin transporter activity										CAGAGCTTTTCCTGCTTACCC	0.652000													47	124					0	0	1	0	0
KRT74	121391	broad.mit.edu	37	12	52967355	52967355	+	Silent	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr12:52967355C>A	ENST00000549343.1	-	1	245	c.207G>T	c.(205-207)cgG>cgT	p.R69R	KRT74_ENST00000305620.2_Silent_p.R69R			Q7RTS7	K2C74_HUMAN	keratin 74	69	Gly-rich.|Head.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		AACCTCCAGCCCGAACGCCGC	0.632000													18	55					7.07596e-05	8.32466e-05	1	1	0
HIST1H3E	8353	broad.mit.edu	37	6	26225792	26225792	+	Nonstop_Mutation	SNP	G	G	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr6:26225792G>T	ENST00000360408.1	+	1	410	c.410G>T	c.(409-411)tGa>tTa	p.*137L		NM_003532.2	NP_003523.1	P68431	H31_HUMAN	histone cluster 1, H3e	0					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				GAGAGGGCGTGAATTGTTTTG	0.498000											OREG0017240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	51					0.0135373	0.0142058	1	1	0
ERO1LB	56605	broad.mit.edu	37	1	236384262	236384262	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr1:236384262G>A	ENST00000354619.5	-	15	1414	c.1213C>T	c.(1213-1215)Cag>Tag	p.Q405*	GPR137B_ENST00000477559.1_Intron	NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	405					electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			CCTAAACCCTGAGTCTAAAGA	0.343000													4	30					0	0	1	0	0
IL17A	3605	broad.mit.edu	37	6	52053904	52053904	+	Nonsense_Mutation	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr6:52053904C>A	ENST00000340057.1	+	3	327	c.282C>A	c.(280-282)tgC>tgA	p.C94*		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	94					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					AGGCAAAGTGCCGCCACTTGG	0.557000													9	32					0.00448238	0.00476253	1	1	0
OR5M9	390162	broad.mit.edu	37	11	56230535	56230535	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr11:56230535C>A	ENST00000279791.1	-	1	342	c.343G>T	c.(343-345)Gtg>Ttg	p.V115L		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					AAGGCCATCACAGCCAGGATA	0.468000													11	67					3.86212e-05	4.55945e-05	1	1	0
PHKB	5257	broad.mit.edu	37	16	47684469	47684469	+	Silent	SNP	C	C	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr16:47684469C>T	ENST00000455779.1	+	20	1976	c.1791C>T	c.(1789-1791)ttC>ttT	p.F597F	PHKB_ENST00000323584.5_Silent_p.F604F|PHKB_ENST00000566044.1_Silent_p.F597F|PHKB_ENST00000299167.8_Silent_p.F604F			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	604					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				CGCTGCAGTTCATTAAACAAT	0.408000													5	34					0	0	1	0	0
FCGR2B	2213	broad.mit.edu	37	1	161641217	161641217	+	Nonsense_Mutation	SNP	C	C	T	rs10917661		TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr1:161641217C>T	ENST00000367962.4	+	3	296	c.169C>T	c.(169-171)Cag>Tag	p.Q57*	FCGR2B_ENST00000236937.9_Nonsense_Mutation_p.Q57*|FCGR2B_ENST00000358671.5_Nonsense_Mutation_p.Q57*|FCGR2B_ENST00000367961.4_Nonsense_Mutation_p.Q50*|FCGR2B_ENST00000367960.5_Nonsense_Mutation_p.Q50*|FCGR2B_ENST00000428605.2_Nonsense_Mutation_p.Q57*|FCGR2B_ENST00000403078.3_Nonsense_Mutation_p.Q57*			P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	57	Ig-like C2-type 1.				immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity					all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ACTCGAGCCCCAGTGGATCAA	0.577000			T	?	ALL								22	86					0	0	1	0	0
GYPA	2993	broad.mit.edu	37	4	145061890	145061890	+	Translation_Start_Site	SNP	G	G	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr4:145061890G>T	ENST00000360771.4	-	0	14					NM_002099.6	NP_002090.4	P02724	GLPA_HUMAN	glycophorin A (MNS blood group)						interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					TTATCTTCCAGGCCCACCTTC	0.453000													9	7					0.000442599	0.000499946	1	1	0
JMJD6	23210	broad.mit.edu	37	17	74721564	74721564	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr17:74721564C>A	ENST00000445478.2	-	2	706	c.503G>T	c.(502-504)cGc>cTc	p.R168L	JMJD6_ENST00000397625.4_Missense_Mutation_p.R168L|JMJD6_ENST00000585429.1_Missense_Mutation_p.R168L	NM_001081461.1	NP_001074930.1	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	168	JmjC.				mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						AGGGGGCCTGCGCTTCTCCCC	0.408000													14	42					0.000219431	0.000253764	1	1	0
PLCXD3	345557	broad.mit.edu	37	5	41382113	41382113	+	Silent	SNP	C	C	G			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr5:41382113C>G	ENST00000377801.3	-	2	701	c.627G>C	c.(625-627)ggG>ggC	p.G209G	PLCXD3_ENST00000328457.3_Silent_p.G209G			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	209					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GCATCATCTGCCCAGGCCAGA	0.507000													26	51					0	0	1	0	0
CPED1	79974	broad.mit.edu	37	7	120770246	120770246	+	Missense_Mutation	SNP	T	T	C			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr7:120770246T>C	ENST00000310396.5	+	12	1942	c.1475T>C	c.(1474-1476)gTg>gCg	p.V492A	CPED1_ENST00000423795.1_Missense_Mutation_p.V272A|CPED1_ENST00000450913.2_Missense_Mutation_p.V492A	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		GCAAATCCTGTGGGAAATCCT	0.393000													12	49					0	0	1	0	0
CAND1	55832	broad.mit.edu	37	12	67696279	67696279	+	Missense_Mutation	SNP	G	G	C			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr12:67696279G>C	ENST00000545606.1	+	8	1614	c.1177G>C	c.(1177-1179)Gat>Cat	p.D393H		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	393					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TGTAAAGGCAGATGTTTTTCA	0.423000													40	83					0	0	1	0	0
PLCH2	9651	broad.mit.edu	37	1	2418735	2418735	+	Missense_Mutation	SNP	T	T	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr1:2418735T>A	ENST00000449969.1	+	7	1114	c.953T>A	c.(952-954)cTc>cAc	p.L318H	PLCH2_ENST00000378488.3_Missense_Mutation_p.L345H|PLCH2_ENST00000419816.2_Missense_Mutation_p.L345H|PLCH2_ENST00000378486.3_Missense_Mutation_p.L345H|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378483.2_Intron			O75038	PLCH2_HUMAN	phospholipase C, eta 2	345					intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		AACACCTACCTCGTGGGTGAC	0.607000													3	19					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32640656	32640656	+	Missense_Mutation	SNP	T	T	G			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr2:32640656T>G	ENST00000421745.2	+	10	2431	c.2297T>G	c.(2296-2298)tTg>tGg	p.L766W		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	766					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GTAGAGGCCTTGAATAATTTA	0.378000													7	37					0	0	1	0	0
BCOR	54880	broad.mit.edu	37	X	39931977	39931977	+	Silent	SNP	T	T	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chrX:39931977T>A	ENST00000342274.4	-	4	2984	c.2622A>T	c.(2620-2622)ccA>ccT	p.P874P	BCOR_ENST00000378455.4_Silent_p.P874P|BCOR_ENST00000397354.3_Silent_p.P874P|BCOR_ENST00000378444.4_Silent_p.P874P	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	874					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CGGTGAAGACTGGCTGTTTGA	0.552000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						11	53					0	0	1	0	0
SMTN	6525	broad.mit.edu	37	22	31484882	31484882	+	Missense_Mutation	SNP	A	A	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr22:31484882A>T	ENST00000333137.7	+	6	616	c.398A>T	c.(397-399)tAc>tTc	p.Y133F	SMTN_ENST00000358743.1_Missense_Mutation_p.Y133F|SMTN_ENST00000347557.2_Missense_Mutation_p.Y133F	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN	smoothelin	133					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GGGAGGTTGTACAGCGGGCGT	0.632000											OREG0026472	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	32					0	0	1	0	0
ZNF841	284371	broad.mit.edu	37	19	52568955	52568955	+	Missense_Mutation	SNP	T	T	C			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr19:52568955T>C	ENST00000389534.4	-	7	2639	c.2180A>G	c.(2179-2181)cAt>cGt	p.H727R	ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000594295.1_Missense_Mutation_p.H727R|ZNF841_ENST00000426391.2_Missense_Mutation_p.H611R|ZNF841_ENST00000359973.2_Intron	NM_001136499.1	NP_001129971.1	Q6ZN19	ZN841_HUMAN	zinc finger protein 841	611					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						TCTTCTCTGATGGTACACCAG	0.398000													4	6					0	0	1	0	0
KIF18A	81930	broad.mit.edu	37	11	28090906	28090906	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr11:28090906C>A	ENST00000263181.6	-	11	1780	c.1490G>T	c.(1489-1491)aGg>aTg	p.R497M		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	497					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						CTCCTCCCTCCTTTTCTCCAG	0.393000													15	31					3.27435e-08	4.45312e-08	1	1	0
MST1L	11223	broad.mit.edu	37	1	17083652	17083652	+	RNA	SNP	C	C	T	rs113710576	by1000genomes	TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr1:17083652C>T	ENST00000455405.2	-	0	936																											aaatctcaaccttgagtacaa	0.388000													4	40					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48725070	48725070	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr15:48725070C>A	ENST00000316623.5	-	55	7187	c.6732G>T	c.(6730-6732)atG>atT	p.M2244I		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	2244	EGF-like 38; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CACCTTTGCACATCCTACGGT	0.498000													28	29					1.06801e-11	1.59265e-11	1	1	0
TENM3	55714	broad.mit.edu	37	4	183658210	183658210	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr4:183658210G>T	ENST00000511685.1	+	17	3340	c.3217G>T	c.(3217-3219)Ggt>Tgt	p.G1073C	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.G1073C					teneurin transmembrane protein 3																		GAAAGTCTATGGTCTATCTGA	0.373000													22	54					5.35356e-11	7.94851e-11	1	1	0
EDIL3	10085	broad.mit.edu	37	5	83362356	83362356	+	Nonsense_Mutation	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr5:83362356C>A	ENST00000296591.5	-	7	1139	c.721G>T	c.(721-723)Gag>Tag	p.E241*	EDIL3_ENST00000510271.1_5'UTR|EDIL3_ENST00000380138.3_Nonsense_Mutation_p.E231*	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	241	F5/8 type C 1.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TTTATATACTCTGGGCTTCCA	0.373000													12	33					0.000978159	0.00108684	1	1	0
TRAPPC8	22878	broad.mit.edu	37	18	29511437	29511437	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr18:29511437C>A	ENST00000283351.4	-	2	542	c.207G>T	c.(205-207)aaG>aaT	p.K69N	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.K15N|TRAPPC8_ENST00000584876.1_5'UTR|TRAPPC8_ENST00000582513.1_Missense_Mutation_p.K69N	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	69					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTACTGCTATCTTCAAATTTT	0.363000													17	64					3.32936e-07	4.35378e-07	1	1	0
EYS	346007	broad.mit.edu	37	6	66204600	66204600	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr6:66204600C>A	ENST00000503581.1	-	4	1241	c.704G>T	c.(703-705)tGg>tTg	p.W235L	EYS_ENST00000342421.5_Missense_Mutation_p.W235L|EYS_ENST00000370618.3_Missense_Mutation_p.W235L|EYS_ENST00000370621.3_Missense_Mutation_p.W235L|EYS_ENST00000370616.2_Missense_Mutation_p.W235L|EYS_ENST00000393380.2_Missense_Mutation_p.W235L	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	235	EGF-like 2.				response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TTGCTCATCCCAATTTTCTCT	0.323000													3	5					0.004672	0.00493317	1	1	0
GHR	2690	broad.mit.edu	37	5	42695111	42695111	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr5:42695111C>A	ENST00000230882.4	+	5	549	c.359C>A	c.(358-360)tCc>tAc	p.S120Y	GHR_ENST00000357703.3_Missense_Mutation_p.S98Y|GHR_ENST00000537449.1_5'UTR	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	120					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TCGTTTACCTCCATCTGGATA	0.373000													8	19					0.00307968	0.00330313	1	1	0
FAM43B	163933	broad.mit.edu	37	1	20879578	20879578	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr1:20879578C>A	ENST00000332947.4	+	1	647	c.112C>A	c.(112-114)Cgc>Agc	p.R38S		NM_207334.2	NP_997217.1	Q6ZT52	FA43B_HUMAN	family with sequence similarity 43, member B	38										large_intestine(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00979)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.000399)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)		CAGCTTCCTGCGCTCCTGCCC	0.657000													10	26					7.48243e-07	9.52819e-07	1	1	0
QRSL1	55278	broad.mit.edu	37	6	107100092	107100092	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr6:107100092G>T	ENST00000369046.4	+	6	670	c.566G>T	c.(565-567)gGa>gTa	p.G189V	QRSL1_ENST00000369044.1_Missense_Mutation_p.G189V	NM_018292.4	NP_060762.3	Q9H0R6	QRSL1_HUMAN	glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1	189					translation		ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor			endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		AGGGCTTTAGGATCAGATACA	0.378000													6	35					8.12818e-05	9.49685e-05	1	1	0
IFNA16	3449	broad.mit.edu	37	9	21217275	21217275	+	Silent	SNP	G	G	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr9:21217275G>T	ENST00000380216.1	-	1	35	c.30C>A	c.(28-30)gcC>gcA	p.A10A		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	10					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		GCACCAGCACGGCCATCAGTA	0.493000													30	37					3.73988e-18	6.11327e-18	1	1	0
UGT2B15	7366	broad.mit.edu	37	4	69512854	69512854	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr4:69512854C>A	ENST00000338206.5	-	6	1570	c.1561G>T	c.(1561-1563)Gcc>Tcc	p.A521S		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	521					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										CCTTTTTTGGCAAGCTTTCGG	0.408000													28	70					2.61193e-14	4.07366e-14	1	1	0
ANTXR1	84168	broad.mit.edu	37	2	69271933	69271933	+	Missense_Mutation	SNP	T	T	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr2:69271933T>A	ENST00000303714.4	+	3	606	c.284T>A	c.(283-285)cTg>cAg	p.L95Q	ANTXR1_ENST00000409829.3_Missense_Mutation_p.L95Q|ANTXR1_ENST00000409349.3_Missense_Mutation_p.L95Q	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	95	VWFA.				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TTAATGAAACTGACAGAAGAC	0.433000									Familial Infantile Hemangioma				31	68					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26890660	26890660	+	Silent	SNP	G	G	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr5:26890660G>T	ENST00000231021.4	-	8	1439	c.1267C>A	c.(1267-1269)Cgg>Agg	p.R423R		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	423	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R423W(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TCAGTATGCCGATCAACAGAG	0.383000													13	62					3.03607e-14	4.71354e-14	1	1	0
ZZZ3	26009	broad.mit.edu	37	1	78098492	78098492	+	Missense_Mutation	SNP	C	C	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr1:78098492C>T	ENST00000370801.3	-	5	1023	c.548G>A	c.(547-549)aGt>aAt	p.S183N	ZZZ3_ENST00000370798.1_Intron|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						CCCTTCCTCACTGACATTCAC	0.398000													19	120					0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104059534	104059534	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr4:104059534G>T	ENST00000265148.3	-	39	6366	c.6277C>A	c.(6277-6279)Ctg>Atg	p.L2093M	CENPE_ENST00000380026.3_Missense_Mutation_p.L1972M	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2093					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTTTCTCTCAGGCTTTCCGTA	0.398000													15	86					0.00316338	0.00338223	1	1	0
PCDHA10	56139	broad.mit.edu	37	5	140235972	140235972	+	Silent	SNP	G	G	C			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr5:140235972G>C	ENST00000307360.5	+	1	339	c.339G>C	c.(337-339)ctG>ctC	p.L113L	PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Silent_p.L113L|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGGCCGCTGCAGGTTTTCC	0.542000													65	133					0	0	1	0	0
KCNQ2	3785	broad.mit.edu	37	20	62038704	62038704	+	Missense_Mutation	SNP	C	C	G			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr20:62038704C>G	ENST00000354587.3	-	17	2112	c.1936G>C	c.(1936-1938)Gac>Cac	p.D646H	KCNQ2_ENST00000359689.1_Missense_Mutation_p.D638H|KCNQ2_ENST00000360480.3_Missense_Mutation_p.D610H|KCNQ2_ENST00000370226.1_Missense_Mutation_p.D608H|KCNQ2_ENST00000359125.2_Missense_Mutation_p.D638H|KCNQ2_ENST00000370224.1_Missense_Mutation_p.D646H|KCNQ2_ENST00000357249.2_Missense_Mutation_p.D620H|KCNQ2_ENST00000344462.3_Missense_Mutation_p.D634H|KCNQ2_ENST00000430658.1_Missense_Mutation_p.D607H			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	638					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	ACCAGGAAGTCCAGCTTCTTC	0.637000													13	29					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167168069	167168069	+	Silent	SNP	A	A	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr2:167168069A>T	ENST00000303354.6	-	2	538	c.198T>A	c.(196-198)atT>atA	p.I66I	SCN9A_ENST00000375387.4_Silent_p.I66I|SCN9A_ENST00000409672.1_Silent_p.I66I|SCN9A_ENST00000409435.1_Silent_p.I66I			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	66						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TGCCGGGAGGAATGTCCCCAT	0.488000													7	52					0	0	1	0	0
RGS1	5996	broad.mit.edu	37	1	192545425	192545425	+	Missense_Mutation	SNP	A	A	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr1:192545425A>T	ENST00000367459.3	+	2	214	c.148A>T	c.(148-150)Atg>Ttg	p.M50L	RGS1_ENST00000469578.2_Missense_Mutation_p.M50L	NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	50					immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				TGGAATGGATATGAAAGCATA	0.303000													5	55					0	0	1	0	0
HAO1	54363	broad.mit.edu	37	20	7866452	7866452	+	Silent	SNP	G	G	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr20:7866452G>A	ENST00000378789.3	-	6	924	c.873C>T	c.(871-873)gaC>gaT	p.D291D		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	291	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GCACACCCCCGTCCAGGAAGA	0.502000													37	113					0	0	1	0	0
ZNF513	130557	broad.mit.edu	37	2	27601842	27601842	+	Silent	SNP	C	C	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr2:27601842C>T	ENST00000323703.6	-	3	489	c.291G>A	c.(289-291)gcG>gcA	p.A97A	ZNF513_ENST00000407879.1_Silent_p.A35A|ZNF513_ENST00000491924.1_5'UTR	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	97	Gly-rich.				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTCACTCTCCGCACTTAGTG	0.662000													7	37					0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21760768	21760768	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr5:21760768C>A	ENST00000382254.1	-	13	2618	c.1532G>T	c.(1531-1533)aGt>aTt	p.S511I	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.S471I|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000504376.2_Missense_Mutation_p.S511I	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	511	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GTCTGCAGCACTGACTATCTG	0.403000										HNSCC(59;0.17)			15	79					2.23348e-06	2.80216e-06	1	1	0
RMND5A	64795	broad.mit.edu	37	2	86968121	86968121	+	Missense_Mutation	SNP	G	G	C			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr2:86968121G>C	ENST00000283632.4	+	2	709	c.214G>C	c.(214-216)Gtt>Ctt	p.V72L		NM_022780.3	NP_073617.1	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog A (S. cerevisiae)	72										kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						AAAGGATACTGTTCAAAAATT	0.378000													16	49					0	0	1	0	0
SLC38A11	151258	broad.mit.edu	37	2	165802156	165802156	+	Missense_Mutation	SNP	C	C	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr2:165802156C>T	ENST00000303735.4	-	3	473	c.143G>A	c.(142-144)gGc>gAc	p.G48D	SLC38A11_ENST00000409149.3_Missense_Mutation_p.G48D|SLC38A11_ENST00000409058.1_Missense_Mutation_p.G79D|SLC38A11_ENST00000409662.1_Missense_Mutation_p.G48D	NM_173512.2	NP_775783.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	48					amino acid transport|sodium ion transport	integral to membrane				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						CCCTGGAAAGCCGAAAGTTTT	0.383000													6	58					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6208916	6208916	+	Missense_Mutation	SNP	T	T	C			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr1:6208916T>C	ENST00000262450.3	-	9	1480	c.1381A>G	c.(1381-1383)Act>Gct	p.T461A	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	461	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ACACTCACAGTACAGCGCGGG	0.721000													15	27					0	0	1	0	0
TNFSF18	8995	broad.mit.edu	37	1	173019957	173019957	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr1:173019957C>T	ENST00000404377.3	-	1	146	c.146G>A	c.(145-147)tGg>tAg	p.W49*	RP1-15D23.2_ENST00000432694.1_RNA|TNFSF18_ENST00000239468.2_Nonsense_Mutation_p.W27*	NM_005092.3	NP_005083.2	Q9UNG2	TNF18_HUMAN	tumor necrosis factor (ligand) superfamily, member 18	49					anti-apoptosis|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						GCAAAAGAGCCACAGCTTCCA	0.398000													6	21					0	0	1	0	0
FAM120A	23196	broad.mit.edu	37	9	96305727	96305727	+	Silent	SNP	C	C	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr9:96305727C>T	ENST00000277165.6	+	11	2327	c.2133C>T	c.(2131-2133)caC>caT	p.H711H	FAM120A_ENST00000333936.5_Silent_p.H739H|FAM120A_ENST00000340893.4_Silent_p.H711H	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	711						cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGCCCACTCACCTCATGGTGC	0.627000													25	36					0	0	1	0	0
ANKRD33	341405	broad.mit.edu	37	12	52284948	52284948	+	Missense_Mutation	SNP	G	G	C			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr12:52284948G>C	ENST00000301190.6	+	5	1445	c.1218G>C	c.(1216-1218)aaG>aaC	p.K406N	ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_Intron|ANKRD33_ENST00000340970.4_Intron	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	0										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		TCCTCTCCAAGGCATCCTCAT	0.592000													21	45					0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78651374	78651374	+	Missense_Mutation	SNP	C	C	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr10:78651374C>T	ENST00000286627.5	-	25	4029	c.3077G>A	c.(3076-3078)gGt>gAt	p.G1026D	KCNMA1_ENST00000372443.1_Missense_Mutation_p.G1053D|KCNMA1_ENST00000286628.8_Missense_Mutation_p.G1084D|RP11-443A13.5_ENST00000429850.2_RNA|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000372440.1_Missense_Mutation_p.G1026D|RP11-443A13.5_ENST00000595702.1_RNA|KCNMA1_ENST00000404857.1_Missense_Mutation_p.G1067D|KCNMA1_ENST00000354353.5_Missense_Mutation_p.G1087D|KCNMA1_ENST00000406533.3_Missense_Mutation_p.G1088D|KCNMA1_ENST00000404771.3_Missense_Mutation_p.G1084D	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1084					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	GCTGTAGCCACCTCTAAGGGC	0.597000													20	18					0	0	1	0	0
NFYC	4802	broad.mit.edu	37	1	41228590	41228590	+	Missense_Mutation	SNP	G	G	C			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr1:41228590G>C	ENST00000372652.1	+	7	860	c.592G>C	c.(592-594)Ggt>Cgt	p.G198R	NFYC_ENST00000372653.1_Intron|NFYC_ENST00000308733.5_Missense_Mutation_p.G198R|NFYC_ENST00000425457.2_Missense_Mutation_p.G198R|NFYC_ENST00000456393.2_Missense_Mutation_p.G198R|NFYC_ENST00000440226.3_Missense_Mutation_p.G198R|NFYC_ENST00000447388.3_Missense_Mutation_p.G198R|NFYC_ENST00000427410.2_Missense_Mutation_p.G160R|NFYC_ENST00000372654.1_Missense_Mutation_p.G198R|NFYC_ENST00000372651.1_Missense_Mutation_p.G198R			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	198				G -> S (in Ref. 4; BAA12818/BAA14051).	protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			GGTTGGAGAAGGTCAGCAGGT	0.542000													5	47					0	0	1	0	0
GLRA3	8001	broad.mit.edu	37	4	175598277	175598277	+	Silent	SNP	C	C	G			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr4:175598277C>G	ENST00000274093.3	-	7	1381	c.879G>C	c.(877-879)gtG>gtC	p.V293V	GLRA3_ENST00000340217.5_Silent_p.V293V	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	293					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	TCATCGTTAGCACAGTGGTTA	0.458000													12	31					0	0	1	0	0
SOX30	11063	broad.mit.edu	37	5	157075727	157075727	+	Missense_Mutation	SNP	T	T	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr5:157075727T>A	ENST00000265007.6	-	2	1486	c.1145A>T	c.(1144-1146)cAa>cTa	p.Q382L	SOX30_ENST00000311371.5_Missense_Mutation_p.Q382L|SOX30_ENST00000519442.1_Missense_Mutation_p.Q77L	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	382					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGGTTTCTTTTGTTCTTCACT	0.398000													49	84					0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95186111	95186111	+	Missense_Mutation	SNP	T	T	C			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr8:95186111T>C	ENST00000027335.3	-	7	821	c.697A>G	c.(697-699)Ata>Gta	p.I233V	CDH17_ENST00000450165.2_Missense_Mutation_p.I233V|CDH17_ENST00000441892.2_Intron	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	233	Cadherin 2.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TCTGTCACTATGATATCCACA	0.448000													34	84					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26683860	26683860	+	Missense_Mutation	SNP	C	C	A	rs140763301		TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr2:26683860C>A	ENST00000272371.2	-	44	5698	c.5572G>T	c.(5572-5574)Gca>Tca	p.A1858S	OTOF_ENST00000339598.3_Missense_Mutation_p.A1091S|OTOF_ENST00000403946.3_Missense_Mutation_p.A1858S|OTOF_ENST00000402415.3_Missense_Mutation_p.A1168S|OTOF_ENST00000338581.6_Missense_Mutation_p.A1091S	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1858					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGTCTTTGCGCCCCGCGGG	0.657000													14	33					1.3612e-06	1.72048e-06	1	1	0
AKAP3	10566	broad.mit.edu	37	12	4737285	4737285	+	Missense_Mutation	SNP	A	A	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr12:4737285A>T	ENST00000545990.2	-	5	1307	c.783T>A	c.(781-783)ttT>ttA	p.F261L	AKAP3_ENST00000228850.1_Missense_Mutation_p.F261L	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	261					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TCTCCCGAGGAAAGAACCTTC	0.463000													10	62					0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208225697	208225697	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr1:208225697C>A	ENST00000367033.3	-	15	3725	c.2968G>T	c.(2968-2970)Ggc>Tgc	p.G990C		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	990	IPT/TIG 2.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GTCTGGTTGCCCAGGTAGACT	0.552000													17	87					1.01871e-10	1.49294e-10	1	1	0
USH2A	7399	broad.mit.edu	37	1	216051189	216051189	+	Silent	SNP	T	T	C			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr1:216051189T>C	ENST00000366943.2	-	43	8978	c.8592A>G	c.(8590-8592)ccA>ccG	p.P2864P	USH2A_ENST00000307340.3_Silent_p.P2864P			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2864	Fibronectin type-III 15.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTGATGCAAGTGGCTGCTGGA	0.398000										HNSCC(13;0.011)			11	183					0	0	1	0	0
WNT2	7472	broad.mit.edu	37	7	116960734	116960734	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr7:116960734C>A	ENST00000265441.3	-	2	496	c.197G>T	c.(196-198)aGc>aTc	p.S66I	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	66					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CACGCCCTGGCTAATGGCACG	0.607000													7	23					0.00198382	0.00214126	1	1	0
PHF12	57649	broad.mit.edu	37	17	27240038	27240038	+	Silent	SNP	T	T	C			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr17:27240038T>C	ENST00000577226.1	-	9	1897	c.1551A>G	c.(1549-1551)ctA>ctG	p.L517L	PHF12_ENST00000332830.4_Silent_p.L517L|PHF12_ENST00000268756.3_Silent_p.L517L|PHF12_ENST00000582655.1_5'UTR			Q96QT6	PHF12_HUMAN	PHD finger protein 12	517	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CGATGTCCTCTAGGGCTGGGG	0.562000													53	98					0	0	1	0	0
ZC3H14	79882	broad.mit.edu	37	14	89038545	89038545	+	Missense_Mutation	SNP	A	A	C			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr14:89038545A>C	ENST00000251038.5	+	5	632	c.407A>C	c.(406-408)cAg>cCg	p.Q136P	ZC3H14_ENST00000302216.8_Missense_Mutation_p.Q136P|ZC3H14_ENST00000393514.5_Missense_Mutation_p.Q136P|ZC3H14_ENST00000336693.4_Missense_Mutation_p.Q102P|ZC3H14_ENST00000555755.1_Missense_Mutation_p.Q136P|ZC3H14_ENST00000359301.3_Missense_Mutation_p.Q102P|ZC3H14_ENST00000557607.1_5'UTR|ZC3H14_ENST00000556945.1_Missense_Mutation_p.Q136P	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	136						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						ACAAGTTCGCAGGAGTCAAAA	0.463000													16	25					0	0	1	0	0
NPAS1	4861	broad.mit.edu	37	19	47524369	47524369	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr19:47524369C>A	ENST00000602212.1	+	2	285	c.65C>A	c.(64-66)gCc>gAc	p.A22D	NPAS1_ENST00000602189.1_Intron|NPAS1_ENST00000449844.2_Missense_Mutation_p.A22D			Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	22					central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		GGCCGCGGCGCCAGCGTCCCC	0.766000													7	15					2.74318e-10	3.93536e-10	1	1	0
NLRP1	22861	broad.mit.edu	37	17	5436228	5436228	+	Silent	SNP	C	C	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr17:5436228C>T	ENST00000345221.3	-	11	3764	c.3210G>A	c.(3208-3210)acG>acA	p.T1070T	NLRP1_ENST00000572272.1_Silent_p.T1070T|NLRP1_ENST00000577119.1_Silent_p.T1040T|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000269280.4_Silent_p.T1070T|NLRP1_ENST00000354411.3_Silent_p.T1040T|NLRP1_ENST00000262467.5_Silent_p.T1074T	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1070					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CCAAAGGCTTCGTATGCAGGT	0.577000													8	22					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152642485	152642485	+	Missense_Mutation	SNP	T	T	C			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr6:152642485T>C	ENST00000367255.5	-	84	16725	c.16124A>G	c.(16123-16125)gAa>gGa	p.E5375G	SYNE1_ENST00000265368.4_Missense_Mutation_p.E5375G|SYNE1_ENST00000423061.1_Missense_Mutation_p.E5304G|SYNE1_ENST00000448038.1_Missense_Mutation_p.E5304G|SYNE1_ENST00000341594.5_Missense_Mutation_p.E5048G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5375					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGCCATTTTTTCAATGTTCTG	0.388000										HNSCC(10;0.0054)			3	14					0	0	1	0	0
LMO1	4004	broad.mit.edu	37	11	8248528	8248528	+	Missense_Mutation	SNP	T	T	C			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr11:8248528T>C	ENST00000335790.3	-	3	854	c.359A>G	c.(358-360)aAc>aGc	p.N120S	LMO1_ENST00000428101.2_Missense_Mutation_p.N119S|LMO1_ENST00000534484.1_Missense_Mutation_p.N109S	NM_002315.2	NP_002306.1	P25800	RBTN1_HUMAN	LIM domain only 1 (rhombotin 1)	120	LIM zinc-binding 2.				cell proliferation|multicellular organismal development|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|skin(1)	5				Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203)		TGACCTCTGGTTGCAGAGCTG	0.642000			"""T, A"""	TRD@	"""T-ALL, neuroblastoma"""	neuroblastoma							4	24					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6647467	6647467	+	Missense_Mutation	SNP	C	C	T	rs147106756		TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr11:6647467C>T	ENST00000299441.3	-	16	6920	c.6509G>A	c.(6508-6510)cGt>cAt	p.R2170H		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2170	Cadherin 20.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCGCAGGAAACGGGGAGCATT	0.632000													3	8					0	0	1	0	0
RAB9BP1	9366	broad.mit.edu	37	5	104435592	104435592	+	RNA	SNP	G	G	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr5:104435592G>A	ENST00000522464.1	-	0	68				RP11-6N13.1_ENST00000503650.1_lincRNA																							GCCCAAGCCTGGTGCAGGGAC	0.443000													10	29					0	0	1	0	0
SIX3	6496	broad.mit.edu	37	2	45169292	45169292	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr2:45169292C>A	ENST00000260653.3	+	1	391	c.49C>A	c.(49-51)Cca>Aca	p.P17T		NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	17					visual perception	nucleus				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTTCTTGTTGCCAAACTTCGC	0.632000													69	100					1.30681e-28	2.30215e-28	1	1	0
BNC2	54796	broad.mit.edu	37	9	16419245	16419245	+	Silent	SNP	G	G	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr9:16419245G>A	ENST00000380672.4	-	7	3099	c.3042C>T	c.(3040-3042)agC>agT	p.S1014S	BNC2_ENST00000545497.1_Silent_p.S919S|BNC2_ENST00000380667.2_Silent_p.S947S	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	1014					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CAGCCCCTAGGCTGCCAGGGA	0.562000													29	47					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140952683	140952683	+	Missense_Mutation	SNP	G	G	C			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr9:140952683G>C	ENST00000277549.5	+	29	4446	c.1877G>C	c.(1876-1878)tGc>tCc	p.C626S	CACNA1B_ENST00000371355.4_Missense_Mutation_p.C1431S|CACNA1B_ENST00000371357.1_Missense_Mutation_p.C1431S|CACNA1B_ENST00000371372.1_Missense_Mutation_p.C1430S|CACNA1B_ENST00000371363.1_Missense_Mutation_p.C1430S|CACNA1B_ENST00000277551.2_Missense_Mutation_p.C1430S			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1430					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	ATGTCTGAATGCAGCCTGGAG	0.532000													15	89					0	0	1	0	0
SLC17A7	57030	broad.mit.edu	37	19	49934366	49934366	+	Missense_Mutation	SNP	C	C	A	rs138689882	by1000genomes	TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr19:49934366C>A	ENST00000221485.3	-	11	1466	c.1295G>T	c.(1294-1296)cGc>cTc	p.R432L	SLC17A7_ENST00000543531.1_Missense_Mutation_p.R420L|SLC17A7_ENST00000600601.1_Missense_Mutation_p.R365L	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	432					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		GCTGGCGTAGCGCGGGGCTAT	0.607000													14	34					4.3838e-07	5.6889e-07	1	1	0
RP1L1	94137	broad.mit.edu	37	8	10480516	10480516	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr8:10480516C>A	ENST00000382483.3	-	2	419	c.196G>T	c.(196-198)Gac>Tac	p.D66Y	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	66					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GAGAGCTCGTCCATGAGGGCG	0.642000													10	42					1.58986e-06	2.00205e-06	1	1	0
FRMPD4	9758	broad.mit.edu	37	X	12627909	12627909	+	Silent	SNP	T	T	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chrX:12627909T>A	ENST00000380682.1	+	3	734	c.228T>A	c.(226-228)ccT>ccA	p.P76P		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	76					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CTCCGGCTCCTCGGAAGGTGG	0.532000													33	24					0	0	1	0	0
RGS6	9628	broad.mit.edu	37	14	72921267	72921267	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr14:72921267C>A	ENST00000553530.1	+	4	423	c.216C>A	c.(214-216)aaC>aaA	p.N72K	RGS6_ENST00000555571.1_Missense_Mutation_p.N72K|RGS6_ENST00000553690.1_3'UTR|RGS6_ENST00000553525.1_Missense_Mutation_p.N72K|RGS6_ENST00000407322.4_Missense_Mutation_p.N72K|RGS6_ENST00000404301.2_Missense_Mutation_p.N72K|RGS6_ENST00000355512.6_Missense_Mutation_p.N72K|RGS6_ENST00000434263.2_Missense_Mutation_p.N3K|RGS6_ENST00000402788.2_Missense_Mutation_p.N72K|RGS6_ENST00000406236.4_Missense_Mutation_p.N72K|RGS6_ENST00000556437.1_Missense_Mutation_p.N72K|RGS6_ENST00000343854.6_Missense_Mutation_p.N72K	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	72	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		TTATGAAGAACCTTTCCATTG	0.458000													17	71					1.96292e-10	2.82794e-10	1	1	0
MROH9	80133	broad.mit.edu	37	1	170964581	170964581	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr1:170964581G>T	ENST00000367759.4	+	13	1400	c.1246G>T	c.(1246-1248)Gtg>Ttg	p.V416L	MROH9_ENST00000367758.3_Missense_Mutation_p.V416L	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9																		CAGGAAAGCGGTGGCCCAGTA	0.463000													70	50					1.53134e-21	2.60328e-21	1	1	0
DYSF	8291	broad.mit.edu	37	2	71825792	71825792	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr2:71825792G>T	ENST00000258104.3	+	33	3896	c.3619G>T	c.(3619-3621)Gag>Tag	p.E1207*	DYSF_ENST00000394120.2_Nonsense_Mutation_p.E1208*|DYSF_ENST00000429174.2_Nonsense_Mutation_p.E1207*|DYSF_ENST00000409744.1_Nonsense_Mutation_p.E1194*|DYSF_ENST00000409651.1_Nonsense_Mutation_p.E1239*|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000413539.2_Nonsense_Mutation_p.E1238*|DYSF_ENST00000410020.3_Nonsense_Mutation_p.E1225*|DYSF_ENST00000409762.1_Nonsense_Mutation_p.E1224*|DYSF_ENST00000409582.3_Nonsense_Mutation_p.E1224*|DYSF_ENST00000409366.1_Nonsense_Mutation_p.E1208*|DYSF_ENST00000410041.1_Nonsense_Mutation_p.E1225*	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1207	C2 4.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CATCTTCTACGAGATCGAGAT	0.567000													8	71					1.12685e-05	1.36832e-05	1	1	0
ATM	472	broad.mit.edu	37	11	108203580	108203580	+	Missense_Mutation	SNP	A	A	G			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr11:108203580A>G	ENST00000278616.4	+	53	8265	c.7880A>G	c.(7879-7881)tAt>tGt	p.Y2627C	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.Y2627C	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2627					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.Y2627fs*29(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TGTGATGCTTATATTATATTA	0.358000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			11	10					0	0	1	0	0
LUC7L	55692	broad.mit.edu	37	16	249126	249126	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr16:249126C>A	ENST00000337351.4	-	6	745	c.622G>T	c.(622-624)Gac>Tac	p.D208Y	LUC7L_ENST00000397783.1_Missense_Mutation_p.D208Y|LUC7L_ENST00000397780.1_Missense_Mutation_p.D155Y|LUC7L_ENST00000293872.8_Missense_Mutation_p.D208Y	NM_018032.3	NP_060502.1	Q9NQ29	LUC7L_HUMAN	LUC7-like (S. cerevisiae)	208							metal ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				CCGAAGTGGTCTGCCAGGCGA	0.502000													42	84					3.09479e-21	5.23496e-21	1	1	0
KCNU1	157855	broad.mit.edu	37	8	36788575	36788575	+	Missense_Mutation	SNP	C	C	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr8:36788575C>T	ENST00000399881.3	+	25	2880	c.2843C>T	c.(2842-2844)gCa>gTa	p.A948V	KCNU1_ENST00000518904.1_3'UTR	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	948						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TATGGTGTGGCAGATAGCTGC	0.443000													26	39					0	0	1	0	0
C10orf128	170371	broad.mit.edu	37	10	50396340	50396340	+	Splice_Site	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr10:50396340C>A	ENST00000374148.1	-	1	96	c.43_splice	c.e1+1	p.L14_splice	C10orf128_ENST00000374153.2_Splice_Site_p.L14_splice|C10orf128_ENST00000374151.3_Splice_Site_p.L14_splice|C10orf128_ENST00000474718.1_Splice_Site_p.L14_splice|C10orf128_ENST00000470884.1_5'UTR			Q5T292	CJ128_HUMAN	chromosome 10 open reading frame 128	14						integral to membrane				breast(1)|large_intestine(1)|lung(1)	3						CCCACTTACCCAGGAGGAAGA	0.627000													26	63					7.41945e-09	1.01718e-08	1	1	0
IKBKAP	8518	broad.mit.edu	37	9	111673441	111673441	+	Silent	SNP	G	G	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr9:111673441G>T	ENST00000374647.5	-	12	1516	c.1209C>A	c.(1207-1209)gtC>gtA	p.V403V	IKBKAP_ENST00000537196.1_Silent_p.V54V	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	403					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TCTGCCGGAAGACTGTCACCA	0.458000													9	11					0.000274275	0.000312931	1	1	0
MPP3	4356	broad.mit.edu	37	17	41898399	41898399	+	Missense_Mutation	SNP	T	T	C			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr17:41898399T>C	ENST00000398393.1	-	9	1047	c.787A>G	c.(787-789)Aac>Gac	p.N263D	MPP3_ENST00000398389.4_Missense_Mutation_p.N238D			Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	238	SH3.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		TCCCGAGGGTTGTAGTGGAAG	0.652000													15	36					0	0	1	0	0
STYXL1	51657	broad.mit.edu	37	7	75630223	75630223	+	Silent	SNP	G	G	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr7:75630223G>A	ENST00000451157.1	-	8	964	c.795C>T	c.(793-795)aaC>aaT	p.N265N	STYXL1_ENST00000359697.3_Silent_p.N265N|STYXL1_ENST00000340062.5_Silent_p.N169N|STYXL1_ENST00000431581.1_Silent_p.N265N|STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000248600.1_Silent_p.N265N			Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	265	Tyrosine-protein phosphatase.				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						AGGTCTGCTCGTTACTATGCA	0.592000													4	75					0	0	1	0	0
OR11H12	440153	broad.mit.edu	37	14	19378035	19378035	+	Missense_Mutation	SNP	C	C	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr14:19378035C>T	ENST00000550708.1	+	1	514	c.442C>T	c.(442-444)Cct>Tct	p.P148S		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTGCTCTATCCTAATATCAT	0.448000													7	164					0	0	1	0	0
SGCD	6444	broad.mit.edu	37	5	156186328	156186328	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr5:156186328C>A	ENST00000435422.3	+	8	1284	c.797C>A	c.(796-798)gCc>gAc	p.A266D	SGCD_ENST00000337851.4_Missense_Mutation_p.A267D	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	266					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGCGTCTGCGCCAATGGGAGA	0.493000													13	69					4.3838e-07	5.6889e-07	1	1	0
MRPS23	51649	broad.mit.edu	37	17	55917207	55917207	+	Missense_Mutation	SNP	T	T	G			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr17:55917207T>G	ENST00000313608.8	-	5	555	c.510A>C	c.(508-510)gaA>gaC	p.E170D		NM_016070.3	NP_057154.2	Q9Y3D9	RT23_HUMAN	mitochondrial ribosomal protein S23	170					translation	intermediate filament cytoskeleton|mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome			endometrium(2)|large_intestine(1)|lung(2)	5	Breast(9;8.75e-08)					CCTGTGGAACTTCTTTCTGAG	0.502000													47	59					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91133759	91133759	+	Silent	SNP	A	A	C			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chrX:91133759A>C	ENST00000373094.1	+	2	3365	c.2520A>C	c.(2518-2520)ccA>ccC	p.P840P	PCDH11X_ENST00000406881.1_Silent_p.P840P|PCDH11X_ENST00000298274.8_Silent_p.P840P|PCDH11X_ENST00000504220.1_Silent_p.P840P|PCDH11X_ENST00000373097.1_Silent_p.P840P|PCDH11X_ENST00000395337.2_Silent_p.P840P|PCDH11X_ENST00000361724.1_Silent_p.P840P|PCDH11X_ENST00000361655.2_Silent_p.P840P|PCDH11X_ENST00000373088.1_Silent_p.P840P	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	840					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GCCAGGCACCACACCTTAAGG	0.433000													18	58					0	0	1	0	0
POLG	5428	broad.mit.edu	37	15	89870430	89870430	+	Silent	SNP	G	G	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr15:89870430G>A	ENST00000268124.5	-	7	1734	c.1401C>T	c.(1399-1401)gcC>gcT	p.A467A	POLG_ENST00000442287.2_Silent_p.A467A	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	467			A -> T (in PEOB, SANDO and MTDPS4A; results in clearly decreased activity, DNA binding and processivity of the polymerase).		base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			AGGCATCATTGGCCAGATCCA	0.607000								DNA polymerases (catalytic subunits)					14	108					0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156592686	156592686	+	Missense_Mutation	SNP	A	A	C			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr5:156592686A>C	ENST00000302938.4	-	1	589	c.494T>G	c.(493-495)tTt>tGt	p.F165C		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	165						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCAATAGCAAAAGAGATCTTC	0.502000													47	69					0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717414	142717414	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chrX:142717414C>A	ENST00000381779.4	-	2	1736	c.1511G>T	c.(1510-1512)aGg>aTg	p.R504M	SLITRK4_ENST00000338017.4_Missense_Mutation_p.R504M|SLITRK4_ENST00000356928.1_Missense_Mutation_p.R504M	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	504						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TTTGTTGTTCCTCAGGTTCAG	0.448000													50	51					7.90463e-13	1.2161e-12	1	1	0
ZBTB18	10472	broad.mit.edu	37	1	244218469	244218469	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr1:244218469C>A	ENST00000358704.4	+	2	1542	c.1393C>A	c.(1393-1395)Cat>Aat	p.H465N		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1			zinc finger and BTB domain containing 18																		CCTGAGCCGCCATGCCGTGGT	0.627000													19	135					6.49762e-13	1.00418e-12	1	1	0
GRM5	2915	broad.mit.edu	37	11	88301038	88301038	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr11:88301038G>T	ENST00000418177.2	-	8	2180	c.1813C>A	c.(1813-1815)Cgt>Agt	p.R605S	GRM5_ENST00000305447.4_Missense_Mutation_p.R605S|GRM5_ENST00000305432.5_Missense_Mutation_p.R605S|GRM5_ENST00000455756.2_Missense_Mutation_p.R605S|GRM5_ENST00000393297.1_Missense_Mutation_p.R605S			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	605					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GGTGTATCACGGTAAATGATG	0.507000													11	17					0.000978159	0.00108684	1	1	0
HMCN1	83872	broad.mit.edu	37	1	185992264	185992264	+	Missense_Mutation	SNP	C	C	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr1:185992264C>T	ENST00000271588.4	+	36	5957	c.5728C>T	c.(5728-5730)Cac>Tac	p.H1910Y	HMCN1_ENST00000367492.2_Missense_Mutation_p.H1910Y	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1910	Ig-like C2-type 16.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AACACAACAGCACATTCAACT	0.378000													10	59					0	0	1	0	0
ITGA5	3678	broad.mit.edu	37	12	54797467	54797467	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr12:54797467G>T	ENST00000293379.4	-	17	1979	c.1718C>A	c.(1717-1719)aCc>aAc	p.T573N	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	573					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						GATGAGCAGGGTCTGGGTCAG	0.612000													15	73					1.52009e-12	2.31763e-12	1	1	0
FRRS1L	23732	broad.mit.edu	37	9	111911937	111911937	+	Missense_Mutation	SNP	C	C	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr9:111911937C>T	ENST00000374581.3	-	2	454	c.455G>A	c.(454-456)gGa>gAa	p.G152E		NM_014334.2	NP_055149.2	Q9P0K9	CI004_HUMAN	ferric-chelate reductase 1-like	152						integral to membrane											CTTAGTTTTTCCACAGTCGTC	0.433000													3	18					0	0	1	0	0
PRKD1	5587	broad.mit.edu	37	14	30107998	30107998	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr14:30107998G>T	ENST00000331968.5	-	5	1038	c.809C>A	c.(808-810)cCg>cAg	p.P270Q	PRKD1_ENST00000415220.2_Missense_Mutation_p.P278Q|PRKD1_ENST00000551644.1_5'UTR	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	270					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	p.P270L(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		AAATGTGTGCGGCACTTTAAC	0.468000													19	26					5.35267e-07	6.9198e-07	1	1	0
DLG5	9231	broad.mit.edu	37	10	79556322	79556322	+	Missense_Mutation	SNP	T	T	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr10:79556322T>A	ENST00000372391.2	-	28	5200	c.5195A>T	c.(5194-5196)cAg>cTg	p.Q1732L	DLG5_ENST00000372388.2_Missense_Mutation_p.Q1392L|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1732	Guanylate kinase-like.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GTCCACCTTCTGGACCCGCTG	0.617000													22	22					0	0	1	0	0
AKR7A3	22977	broad.mit.edu	37	1	19610499	19610499	+	Silent	SNP	T	T	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr1:19610499T>A	ENST00000361640.4	-	6	1365	c.825A>T	c.(823-825)tcA>tcT	p.S275S		NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)	275					cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGCAGCTGTGAGTGGTGGT	0.577000													22	41					0	0	1	0	0
CRYGC	1420	broad.mit.edu	37	2	208994226	208994226	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr2:208994226G>T	ENST00000282141.3	-	2	228	c.191C>A	c.(190-192)cCc>cAc	p.P64H		NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN	crystallin, gamma C	64	Beta/gamma crystallin 'Greek key' 2.				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens			NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		CTGGTAGTCGGGGTACTCCCC	0.582000													19	90					1.33834e-09	1.88031e-09	1	1	0
KIF18A	81930	broad.mit.edu	37	11	28090905	28090905	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr11:28090905C>A	ENST00000263181.6	-	11	1781	c.1491G>T	c.(1489-1491)agG>agT	p.R497S		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	497					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						CCTCCTCCCTCCTTTTCTCCA	0.398000													15	34					2.32078e-09	3.22068e-09	1	1	0
TCF3	6929	broad.mit.edu	37	19	1632117	1632117	+	Splice_Site	SNP	T	T	C			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr19:1632117T>C	ENST00000262965.5	-	5	564		c.e5-2		TCF3_ENST00000344749.5_Splice_Site|TCF3_ENST00000395423.3_Intron|TCF3_ENST00000588136.1_Splice_Site	NM_003200.3	NP_003191.1	P15923	TFE2_HUMAN	transcription factor 3						B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGAAGGTCTAGGGGAGATG	0.637000			T	"""PBX1, HLF, TFPT"""	pre B-ALL								6	7					0	0	1	0	0
CRYGC	1420	broad.mit.edu	37	2	208994225	208994225	+	Silent	SNP	G	G	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr2:208994225G>T	ENST00000282141.3	-	2	229	c.192C>A	c.(190-192)ccC>ccA	p.P64P		NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN	crystallin, gamma C	64	Beta/gamma crystallin 'Greek key' 2.				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens			NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GCTGGTAGTCGGGGTACTCCC	0.582000													19	89					1.33834e-09	1.88031e-09	1	1	0
ZNF781	163115	broad.mit.edu	37	19	38160106	38160106	+	Missense_Mutation	SNP	A	A	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr19:38160106A>T	ENST00000358582.4	-	4	1692	c.944T>A	c.(943-945)gTc>gAc	p.V315D	ZNF781_ENST00000590008.1_Missense_Mutation_p.V315D|ZFP30_ENST00000586732.1_Intron	NM_152605.3	NP_689818.2	Q8N8C0	ZN781_HUMAN	zinc finger protein 781	315					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						TGCATTACTGACATTCATAAG	0.388000													28	67					0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81927378	81927378	+	Missense_Mutation	SNP	A	A	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr16:81927378A>T	ENST00000359376.3	+	12	1265	c.1051A>T	c.(1051-1053)Atg>Ttg	p.M351L		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	351	PI-PLC X-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CTGCCTGCGCATGGGCTGTCG	0.567000													11	42					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32165128	32165128	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr6:32165128C>A	ENST00000375023.3	-	27	5138	c.5000G>T	c.(4999-5001)gGg>gTg	p.G1667V	NOTCH4_ENST00000443903.2_Missense_Mutation_p.G76V	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1667					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGGTGTGCGCCCTGCCCGGTC	0.667000													8	47					0.000274275	0.000312931	1	1	0
DIP2C	22982	broad.mit.edu	37	10	436800	436800	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr10:436800C>A	ENST00000280886.6	-	11	1351	c.1264G>T	c.(1264-1266)Gca>Tca	p.A422S	DIP2C_ENST00000381496.3_Missense_Mutation_p.A315S	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	422						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TGGCTCCCTGCGTCCTGAGAG	0.577000													16	97					0.000422831	0.000480812	1	1	0
GRIN3A	116443	broad.mit.edu	37	9	104335536	104335536	+	Missense_Mutation	SNP	G	G	T	rs142270850		TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr9:104335536G>T	ENST00000361820.3	-	9	3868	c.3268C>A	c.(3268-3270)Cgt>Agt	p.R1090S		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	1090					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	AGCTCCTGACGGATCACCTGA	0.532000													15	75					1.3612e-06	1.72048e-06	1	1	0
SLC9A2	6549	broad.mit.edu	37	2	103321036	103321036	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr2:103321036G>T	ENST00000233969.2	+	10	2021	c.1879G>T	c.(1879-1881)Gac>Tac	p.D627Y		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	627						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TCTGACAGCCGACACAAGTGA	0.433000													7	64					1.12685e-05	1.36832e-05	1	1	0
PLP1	5354	broad.mit.edu	37	X	103042762	103042762	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chrX:103042762G>T	ENST00000418604.1	+	5	769	c.489G>T	c.(487-489)tgG>tgT	p.W163C	PLP1_ENST00000361621.2_Missense_Mutation_p.W128C|PLP1_ENST00000303958.2_Missense_Mutation_p.W163C|PLP1_ENST00000466486.1_3'UTR	NM_001128834.1	NP_001122306.1	P60201	MYPR_HUMAN	proteolipid protein 1	163			Missing (in HLD1).|W -> R (in HLD1).		cell death|synaptic transmission	integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						CCGTTGTGTGGCTCCTGGTGT	0.502000													19	67					1.10923e-09	1.57799e-09	1	1	0
COLEC10	10584	broad.mit.edu	37	8	120079600	120079600	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr8:120079600G>T	ENST00000332843.2	+	1	121	c.80G>T	c.(79-81)gGt>gTt	p.G27V	COLEC10_ENST00000521788.1_Intron|RP11-278I4.2_ENST00000518362.1_RNA	NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	27						collagen|cytoplasm	mannose binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			CAGAGTCTGGGTCTGGATATT	0.428000													8	38					1.06961e-07	1.44313e-07	1	1	0
ZNF768	79724	broad.mit.edu	37	16	30536894	30536894	+	Silent	SNP	G	G	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr16:30536894G>T	ENST00000380412.5	-	2	742	c.567C>A	c.(565-567)tcC>tcA	p.S189S	ZNF768_ENST00000562803.1_Silent_p.S158S	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	189					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding	p.S189S(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GAACTCCTACGGAGATATTCA	0.547000													26	136					1.1804e-14	1.8754e-14	1	1	0
ANAPC5	51433	broad.mit.edu	37	12	121775093	121775093	+	Splice_Site	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr12:121775093C>A	ENST00000261819.3	-	6	881		c.e6+1		ANAPC5_ENST00000541887.1_Splice_Site|ANAPC5_ENST00000441917.2_Splice_Site|ANAPC5_ENST00000344395.4_Splice_Site|ANAPC5_ENST00000536366.1_Splice_Site	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GAAAGACTTACCGCTTCAGCA	0.383000													13	82					1.41608e-15	2.27107e-15	1	1	0
SYNJ2	8871	broad.mit.edu	37	6	158507977	158507977	+	Missense_Mutation	SNP	A	A	G			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr6:158507977A>G	ENST00000355585.4	+	23	3374	c.3299A>G	c.(3298-3300)aAc>aGc	p.N1100S	SYNJ2_ENST00000367121.3_Missense_Mutation_p.N1100S|SYNJ2_ENST00000367112.1_Missense_Mutation_p.N185S|SYNJ2_ENST00000367122.2_Intron	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1100	Pro-rich.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TCGGTCCCCAACCGGCCTCGG	0.647000													6	24					0	0	1	0	0
CSF2RB	1439	broad.mit.edu	37	22	37319310	37319310	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr22:37319310G>T	ENST00000262825.5	+	3	318	c.101G>T	c.(100-102)cGc>cTc	p.R34L	CSF2RB_ENST00000403662.3_Missense_Mutation_p.R34L|CSF2RB_ENST00000406230.1_Missense_Mutation_p.R34L	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	34					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CAGACCCTGCGCTGCTACAAC	0.607000													21	29					1.55795e-14	2.45232e-14	1	1	0
XIRP2	129446	broad.mit.edu	37	2	167760210	167760210	+	Nonsense_Mutation	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr2:167760210C>A	ENST00000409195.1	+	2	307	c.218C>A	c.(217-219)tCg>tAg	p.S73*	XIRP2_ENST00000420519.1_Nonsense_Mutation_p.S73*|XIRP2_ENST00000409728.1_Nonsense_Mutation_p.S73*|XIRP2_ENST00000409756.2_Nonsense_Mutation_p.S73*|XIRP2_ENST00000409043.1_Nonsense_Mutation_p.S73*|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.S73*	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATGTGGAGTTCGAAGCCGGAA	0.522000													6	17					0.00116845	0.0012774	1	1	0
CHL1	10752	broad.mit.edu	37	3	370039	370039	+	Splice_Site	SNP	T	T	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr3:370039T>A	ENST00000256509.2	+	5	1027		c.e5+2		CHL1_ENST00000397491.2_Splice_Site	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like						axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TAGTTCCAAGTAAGTACTATA	0.343000													16	35					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204924075	204924075	+	Silent	SNP	C	C	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr1:204924075C>T	ENST00000367172.4	+	7	859	c.531C>T	c.(529-531)agC>agT	p.S177S	NFASC_ENST00000367170.4_Silent_p.S177S|NFASC_ENST00000367171.4_Silent_p.S177S|NFASC_ENST00000539706.1_Silent_p.S171S|NFASC_ENST00000338515.6_Silent_p.S177S|NFASC_ENST00000403080.1_Silent_p.S177S|NFASC_ENST00000513543.1_Silent_p.S171S|NFASC_ENST00000404907.1_Silent_p.S171S|NFASC_ENST00000367169.4_Silent_p.S177S|NFASC_ENST00000339876.6_Silent_p.S177S|NFASC_ENST00000360049.4_Silent_p.S171S|NFASC_ENST00000404076.1_Silent_p.S171S|NFASC_ENST00000338586.6_Silent_p.S177S|NFASC_ENST00000401399.1_Silent_p.S177S			O94856	NFASC_HUMAN	neurofascin	177	Ig-like C2-type 2.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TCTGGATGAGCAGCTGTGAGT	0.582000													102	115					0	0	1	0	0
TRPA1	8989	broad.mit.edu	37	8	72958760	72958760	+	Silent	SNP	A	A	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr8:72958760A>T	ENST00000262209.4	-	17	2256	c.2049T>A	c.(2047-2049)ctT>ctA	p.L683L	RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	683						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TGAGGGCTGTAAGCGGTTCAT	0.289000													9	73					0	0	1	0	0
APOO	79135	broad.mit.edu	37	X	23876836	23876836	+	Nonsense_Mutation	SNP	T	T	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chrX:23876836T>A	ENST00000379226.4	-	6	634	c.403A>T	c.(403-405)Aag>Tag	p.K135*	APOO_ENST00000379220.3_Nonsense_Mutation_p.K116*	NM_024122.4	NP_077027.1	Q9BUR5	APOO_HUMAN	apolipoprotein O	135					lipid transport	high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						TACACTAGCTTCTTTATTTTT	0.398000													7	25					0	0	1	0	0
HACE1	57531	broad.mit.edu	37	6	105219114	105219114	+	Missense_Mutation	SNP	G	G	C			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr6:105219114G>C	ENST00000262903.4	-	19	2441	c.2165C>G	c.(2164-2166)cCt>cGt	p.P722R	HACE1_ENST00000369125.2_Intron|HACE1_ENST00000517995.1_5'UTR	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	722	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		AGGTTTCAAAGGCACCTCTTC	0.358000													6	55					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764394	77764394	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr8:77764394C>A	ENST00000521891.2	+	10	5685	c.5237C>A	c.(5236-5238)aCg>aAg	p.T1746K	ZFHX4_ENST00000050961.6_Missense_Mutation_p.T1701K|ZFHX4_ENST00000518282.1_Missense_Mutation_p.T1720K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.T1701K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1701	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATACCTGGGACGGAGTTCAGC	0.502000										HNSCC(33;0.089)			7	37					0.00198382	0.00214126	1	1	0
GJB4	127534	broad.mit.edu	37	1	35227626	35227626	+	Silent	SNP	G	G	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr1:35227626G>A	ENST00000339480.1	+	2	1141	c.771G>A	c.(769-771)tcG>tcA	p.S257S	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	257					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				AGGCTGGGTCGGCCCCAGTGG	0.597000													7	13					0	0	1	0	0
IL17A	3605	broad.mit.edu	37	6	52053905	52053905	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr6:52053905C>A	ENST00000340057.1	+	3	328	c.283C>A	c.(283-285)Cgc>Agc	p.R95S		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	95					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity	p.R95C(1)		endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					GGCAAAGTGCCGCCACTTGGG	0.552000													9	33					0.00448238	0.00476253	1	1	0
AHI1	54806	broad.mit.edu	37	6	135778818	135778818	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr6:135778818C>A	ENST00000367800.4	-	7	1181	c.965G>T	c.(964-966)gGt>gTt	p.G322V	AHI1_ENST00000327035.6_Missense_Mutation_p.G322V|AHI1_ENST00000457866.2_Missense_Mutation_p.G322V	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	322						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TTCATGAACACCATCACCATC	0.358000													16	46					3.32936e-07	4.35378e-07	1	1	0
SLC41A2	84102	broad.mit.edu	37	12	105198958	105198958	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr12:105198958C>A	ENST00000258538.3	-	10	1821	c.1694G>T	c.(1693-1695)gGa>gTa	p.G565V	SLC41A2_ENST00000549713.1_5'UTR	NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	565						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						ATCTCGATCTCCAATAAGCCA	0.418000													46	138					1.6237e-14	2.54404e-14	1	1	0
AGMO	392636	broad.mit.edu	37	7	15405784	15405784	+	Missense_Mutation	SNP	C	C	G			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr7:15405784C>G	ENST00000342526.3	-	11	1307	c.1138G>C	c.(1138-1140)Gga>Cga	p.G380R		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	380					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						AGAAGAAATCCAATGGAAGTC	0.388000													3	14					0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	52928721	52928721	+	Missense_Mutation	SNP	A	A	T	rs142998298	byFrequency	TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr18:52928721A>T	ENST00000354452.3	-	12	1577	c.966T>A	c.(964-966)gaT>gaA	p.D322E	TCF4_ENST00000398339.1_Missense_Mutation_p.D424E|TCF4_ENST00000540999.1_Missense_Mutation_p.D298E|TCF4_ENST00000570287.2_Missense_Mutation_p.D162E|TCF4_ENST00000564228.1_Missense_Mutation_p.D251E|TCF4_ENST00000566279.1_Missense_Mutation_p.D262E|TCF4_ENST00000537578.1_Missense_Mutation_p.D298E|TCF4_ENST00000457482.3_Missense_Mutation_p.D162E|TCF4_ENST00000544241.2_Missense_Mutation_p.D251E|TCF4_ENST00000565018.2_Missense_Mutation_p.D322E|TCF4_ENST00000568673.1_Missense_Mutation_p.D298E|TCF4_ENST00000537856.3_Missense_Mutation_p.D192E|TCF4_ENST00000567880.1_Missense_Mutation_p.D262E|TCF4_ENST00000561992.1_Missense_Mutation_p.D192E|TCF4_ENST00000356073.4_Missense_Mutation_p.D322E|TCF4_ENST00000564403.2_Missense_Mutation_p.D328E|TCF4_ENST00000570177.2_Missense_Mutation_p.D192E|TCF4_ENST00000566286.1_Missense_Mutation_p.D320E|TCF4_ENST00000568740.1_Missense_Mutation_p.D297E|TCF4_ENST00000561831.3_Missense_Mutation_p.D162E|TCF4_ENST00000564999.1_Missense_Mutation_p.D322E|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000543082.1_Missense_Mutation_p.D280E	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	322					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		TCCCCAGAGCATCTCCAGTCT	0.453000													31	193					0	0	1	0	0
EHBP1	23301	broad.mit.edu	37	2	63220752	63220752	+	Missense_Mutation	SNP	G	G	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr2:63220752G>A	ENST00000263991.5	+	19	3516	c.3034G>A	c.(3034-3036)Gtc>Atc	p.V1012I	EHBP1_ENST00000354487.3_Missense_Mutation_p.V977I|EHBP1_ENST00000496857.1_3'UTR|EHBP1_ENST00000405289.1_Missense_Mutation_p.V977I|EHBP1_ENST00000431489.1_Missense_Mutation_p.V941I|EHBP1_ENST00000405015.3_Missense_Mutation_p.V941I	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	1012						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			AGATTCTACAGTCAGAAAAAC	0.338000													16	20					0	0	1	0	0
ASIC4	55515	broad.mit.edu	37	2	220379832	220379832	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr2:220379832G>T	ENST00000358078.4	+	1	781	c.767G>T	c.(766-768)aGc>aTc	p.S256I	ASIC4_ENST00000347842.3_Missense_Mutation_p.S256I|AC053503.11_ENST00000429882.1_RNA			Q96FT7	ACCN4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	256						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity										TCGGCACTCAGCGATGCCGAC	0.662000													17	32					4.7546e-09	6.5448e-09	1	1	0
CCDC129	223075	broad.mit.edu	37	7	31682808	31682808	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr7:31682808G>T	ENST00000319386.3	+	11	2373	c.1380G>T	c.(1378-1380)aaG>aaT	p.K460N	CCDC129_ENST00000409210.1_Missense_Mutation_p.K516N|CCDC129_ENST00000451887.2_Missense_Mutation_p.K634N|CCDC129_ENST00000407970.3_Missense_Mutation_p.K608N			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	608										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CTCAAGACAAGTTCCTTCATG	0.488000													47	85					8.20599e-20	1.36766e-19	1	1	0
CES1	1066	broad.mit.edu	37	16	55862803	55862803	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr16:55862803G>T	ENST00000422046.2	-	2	414	c.133C>A	c.(133-135)Cag>Aag	p.Q45K	CES1_ENST00000361503.4_Missense_Mutation_p.Q45K|CES1_ENST00000360526.3_Missense_Mutation_p.Q46K			P23141	EST1_HUMAN	carboxylesterase 1	45					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	GCCACAGGCTGTGCAAATCCT	0.557000													5	25					0.000602214	0.000675752	1	1	0
PSG6	5675	broad.mit.edu	37	19	43411986	43411986	+	Missense_Mutation	SNP	T	T	C			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr19:43411986T>C	ENST00000187910.2	-	4	792	c.727A>G	c.(727-729)Atc>Gtc	p.I243V	PSG6_ENST00000292125.2_Missense_Mutation_p.I243V|PSG6_ENST00000402603.4_Intron	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				TTGATGGTGATGTAAGGCATG	0.483000													47	121					0	0	1	0	0
CRYBG3	131544	broad.mit.edu	37	3	97596606	97596606	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr3:97596606G>T	ENST00000182096.4	+	1	788	c.724G>T	c.(724-726)Gtt>Ttt	p.V242F		NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 3											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						CCAGGAGAGCGTTGGAATTTC	0.453000													5	29					0.00116845	0.0012774	1	1	0
PPAPDC3	84814	broad.mit.edu	37	9	134165561	134165561	+	Silent	SNP	A	A	G			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr9:134165561A>G	ENST00000372264.3	+	1	481	c.177A>G	c.(175-177)cgA>cgG	p.R59R	PPAPDC3_ENST00000372261.1_Silent_p.R59R	NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain containing 3	59						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		CCAGAGAGCGACGCCAGTCAC	0.662000													9	37					0	0	1	0	0
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	by1000genomes	TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr6:29910693A>G	ENST00000396634.1	+	4	574	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	78	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.Q78R(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			4	25					0	0	1	0	0
LMBRD2	92255	broad.mit.edu	37	5	36118015	36118015	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr5:36118015C>A	ENST00000296603.4	-	10	1586	c.1124G>T	c.(1123-1125)tGg>tTg	p.W375L		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	375						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTCCCAGTACCATTCTAGAAG	0.343000													4	25					1	1	1	1	0
BTK	695	broad.mit.edu	37	X	100608946	100608946	+	Silent	SNP	T	T	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chrX:100608946T>A	ENST00000308731.7	-	17	1825	c.1662A>T	c.(1660-1662)tcA>tcT	p.S554S	BTK_ENST00000372880.1_Silent_p.S378S	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	554	Protein kinase.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TGGAGCCTACTGAGCTTGTGT	0.458000									Agammaglobulinemia, X-linked				31	27					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164716431	164716431	+	Silent	SNP	C	C	G			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr3:164716431C>G	ENST00000264382.3	-	38	4499	c.4437G>C	c.(4435-4437)ggG>ggC	p.G1479G		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1479	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AAATTACAATCCCTCTTTTTC	0.388000										HNSCC(35;0.089)			19	47					0	0	1	0	0
CAMK4	814	broad.mit.edu	37	5	110730481	110730481	+	Splice_Site	SNP	G	G	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr5:110730481G>T	ENST00000282356.4	+	5	857		c.e5+1		CAMK4_ENST00000512453.1_Splice_Site	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV						activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		GGCAGTTGCTGTAAGTATGAA	0.388000													3	17					0.004672	0.00493317	1	1	0
NAIP	4671	broad.mit.edu	37	5	70308532	70308532	+	Nonsense_Mutation	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr5:70308532C>A	ENST00000517649.1	-	4	501	c.211G>T	c.(211-213)Gag>Tag	p.E71*	NAIP_ENST00000194097.4_Nonsense_Mutation_p.E71*|NAIP_ENST00000503719.2_Intron|NAIP_ENST00000508426.2_Nonsense_Mutation_p.E71*|NAIP_ENST00000523981.1_Intron	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	71					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		CTGTACGGCTCATAAGTCACA	0.468000													42	62					6.5261e-18	1.06166e-17	1	1	0
ATP4A	495	broad.mit.edu	37	19	36041962	36041962	+	Missense_Mutation	SNP	G	G	C			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr19:36041962G>C	ENST00000262623.3	-	20	2965	c.2937C>G	c.(2935-2937)ttC>ttG	p.F979L		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	979					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	AGTAGCACAGGAAGCAGCCGA	0.592000													5	16					0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160063281	160063281	+	Missense_Mutation	SNP	G	G	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr5:160063281G>A	ENST00000327245.5	-	11	1882	c.1036C>T	c.(1036-1038)Cct>Tct	p.P346S	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	346					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCGAAGGGAGGGTGTTCTTCA	0.498000													6	49					0	0	1	0	0
AMER3	205147	broad.mit.edu	37	2	131521603	131521603	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr2:131521603G>T	ENST00000423981.1	+	2	2068	c.1958G>T	c.(1957-1959)tGt>tTt	p.C653F	AMER3_ENST00000321420.4_Missense_Mutation_p.C653F	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		GTCCTGGGGTGTTTCCGAGGC	0.622000													3	24					0.115264	0.118757	1	1	0
FAM86HP	729375	broad.mit.edu	37	3	129821650	129821650	+	RNA	SNP	G	G	A	rs56088005	by1000genomes	TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr3:129821650G>A	ENST00000500074.2	-	0	495																											GGTTGCGGACGGTAAAGGCCA	0.667000													6	107					0	0	1	0	0
SATB2	23314	broad.mit.edu	37	2	200193506	200193506	+	Missense_Mutation	SNP	T	T	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr2:200193506T>A	ENST00000443023.1	-	7	2589	c.1124A>T	c.(1123-1125)cAg>cTg	p.Q375L	SATB2_ENST00000260926.5_Missense_Mutation_p.Q434L|RP11-486F17.1_ENST00000489557.2_RNA|SATB2_ENST00000428695.1_Missense_Mutation_p.Q316L|SATB2_ENST00000417098.1_Missense_Mutation_p.Q434L|SATB2_ENST00000457245.1_Missense_Mutation_p.Q434L			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	434						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CCTCTCATCCTGGTAGATGCG	0.552000													5	39					0	0	1	0	0
TCTEX1D1	200132	broad.mit.edu	37	1	67236111	67236111	+	Missense_Mutation	SNP	G	G	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr1:67236111G>A	ENST00000282670.2	+	3	289	c.161G>A	c.(160-162)cGt>cAt	p.R54H	TCTEX1D1_ENST00000491611.1_3'UTR	NM_152665.2	NP_689878.2	Q8N7M0	TC1D1_HUMAN	Tctex1 domain containing 1	54										large_intestine(2)|lung(10)|skin(1)	13						CCCAGTCAGCGTGATGATATC	0.333000													20	82					0	0	1	0	0
NR2F1	7025	broad.mit.edu	37	5	92923652	92923652	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr5:92923652C>A	ENST00000327111.3	+	2	2180	c.493C>A	c.(493-495)Cag>Aag	p.Q165K		NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	165					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		GCCTCCAACCCAGCCCAATCC	0.607000													12	83					0.00010058	0.000116714	1	1	0
TRABD2A	129293	broad.mit.edu	37	2	85097793	85097793	+	Missense_Mutation	SNP	C	C	G			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr2:85097793C>G	ENST00000335459.5	-	2	430	c.225G>C	c.(223-225)aaG>aaC	p.K75N	TRABD2A_ENST00000409133.1_Missense_Mutation_p.K75N|TRABD2A_ENST00000409520.2_Missense_Mutation_p.K75N	NM_001080824.1	NP_001074293.1			TraB domain containing 2A																		GGAAAGCCTCCTTAGAGTTGT	0.522000													6	8					0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73047050	73047050	+	RNA	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chrX:73047050C>A	ENST00000604411.1	+	0	35011				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						AGGAACCGCTCCACAATGCTT	0.532000													50	72					4.0181e-32	7.11539e-32	1	1	0
SCN8A	6334	broad.mit.edu	37	12	52200137	52200137	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr12:52200137C>A	ENST00000354534.5	+	27	5045	c.4867C>A	c.(4867-4869)Cgt>Agt	p.R1623S	SCN8A_ENST00000545061.1_Missense_Mutation_p.R1582S	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1623					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	p.R1623S(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	CCGATTGGCCCGTATTGGGCG	0.468000													37	99					5.43694e-19	8.97358e-19	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152737745	152737745	+	Nonsense_Mutation	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr6:152737745C>A	ENST00000367255.5	-	41	6428	c.5827G>T	c.(5827-5829)Gag>Tag	p.E1943*	SYNE1_ENST00000265368.4_Nonsense_Mutation_p.E1943*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.E1950*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.E1950*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.E1980*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1943					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTCCTTTGCTCAGAGCTCCCG	0.498000										HNSCC(10;0.0054)			16	51					2.31682e-05	2.75426e-05	1	1	0
PCDHGB1	56104	broad.mit.edu	37	5	140730454	140730454	+	Silent	SNP	G	G	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr5:140730454G>A	ENST00000523390.1	+	1	627	c.627G>A	c.(625-627)ctG>ctA	p.L209L	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTTAATCCTGACTGCCATGG	0.512000													14	55					0	0	1	0	0
SPP1	6696	broad.mit.edu	37	4	88901228	88901228	+	Missense_Mutation	SNP	A	A	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr4:88901228A>T	ENST00000237623.7	+	4	272	c.124A>T	c.(124-126)Aca>Tca	p.T42S	SPP1_ENST00000360804.4_Intron|SPP1_ENST00000509659.1_3'UTR|SPP1_ENST00000395080.3_Missense_Mutation_p.T42S	NM_000582.2	NP_000573.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	42					biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		TGCTGTGGCCACATGGCTAAA	0.363000													21	34					0	0	1	0	0
VGLL3	389136	broad.mit.edu	37	3	87017773	87017773	+	Missense_Mutation	SNP	C	C	G			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr3:87017773C>G	ENST00000398399.2	-	3	1267	c.904G>C	c.(904-906)Gta>Cta	p.V302L	VGLL3_ENST00000383698.3_Missense_Mutation_p.V302L	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		ACTATGTCTACTGTTCCATGA	0.463000													12	30					0	0	1	0	0
GCSAML	148823	broad.mit.edu	37	1	247712356	247712356	+	Silent	SNP	A	A	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr1:247712356A>T	ENST00000366490.3	+	4	383	c.225A>T	c.(223-225)gcA>gcT	p.A75A	GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366491.2_5'UTR|GCSAML_ENST00000531662.1_3'UTR|GCSAML_ENST00000366489.1_5'UTR					germinal center-associated, signaling and motility-like																		GGCCCCTGGCAGCTCGTGGTT	0.562000													4	13					0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120707502	120707502	+	Silent	SNP	A	A	C			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr11:120707502A>C	ENST00000527524.2	+	8	980	c.693A>C	c.(691-693)gcA>gcC	p.A231A	GRIK4_ENST00000438375.2_Silent_p.A231A			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	231					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	CCTTGCAGGCAGCCGAACTTG	0.463000													29	33					0	0	1	0	0
CREG2	200407	broad.mit.edu	37	2	102000099	102000099	+	Silent	SNP	C	C	G			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr2:102000099C>G	ENST00000324768.4	-	2	644	c.507G>C	c.(505-507)ggG>ggC	p.G169G	CREG2_ENST00000495455.1_5'UTR	NM_153836.3	NP_722578.1	Q8IUH2	CREG2_HUMAN	cellular repressor of E1A-stimulated genes 2	169						extracellular region	FMN binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						AGAAAGGAATCCCAGTGCTAT	0.512000													22	40					0	0	1	0	0
MDGA2	161357	broad.mit.edu	37	14	47566206	47566206	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr14:47566206G>T	ENST00000426342.1	-	6	898	c.152C>A	c.(151-153)tCc>tAc	p.S51Y	MDGA2_ENST00000439988.2_Missense_Mutation_p.S280Y|MDGA2_ENST00000357362.3_Missense_Mutation_p.S51Y|MDGA2_ENST00000399232.2_Missense_Mutation_p.S349Y	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	280	Ig-like 1.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		p.S51C(2)|p.S349C(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						AGTCCCAAAGGACCTGACCCA	0.468000													13	73					9.31168e-06	1.14709e-05	1	1	0
BSN	8927	broad.mit.edu	37	3	49692502	49692502	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr3:49692502G>T	ENST00000296452.4	+	5	5627	c.5513G>T	c.(5512-5514)gGt>gTt	p.G1838V		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1838					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)		CCAGAGCCAGGTGCCGAGCCC	0.637000													24	67					1.37878e-21	2.35571e-21	1	1	0
CLEC18A	348174	broad.mit.edu	37	16	69988469	69988469	+	Missense_Mutation	SNP	A	A	G			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr16:69988469A>G	ENST00000288040.6	+	3	636	c.449A>G	c.(448-450)tAc>tGc	p.Y150C	CLEC18A_ENST00000568461.1_Missense_Mutation_p.Y150C|CLEC18A_ENST00000449317.2_Missense_Mutation_p.Y150C|CLEC18A_ENST00000393701.2_Missense_Mutation_p.Y150C	NM_001136214.1|NM_001271197.1	NP_001129686.1|NP_001258126.1	A5D8T8	CL18A_HUMAN	C-type lectin domain family 18, member A	150	SCP.					extracellular region	sugar binding			NS(1)|endometrium(2)|lung(1)|skin(1)	5						TGCACCCACTACACGCAGGTG	0.577000													7	9					0	0	1	0	0
TMEM196	256130	broad.mit.edu	37	7	19765250	19765250	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr7:19765250C>A	ENST00000405844.1	-	3	1041	c.346G>T	c.(346-348)Ggg>Tgg	p.G116W	TMEM196_ENST00000433641.1_Missense_Mutation_p.G48W|TMEM196_ENST00000493519.1_Missense_Mutation_p.G48W|TMEM196_ENST00000405764.3_Missense_Mutation_p.G116W|TMEM196_ENST00000422233.1_Missense_Mutation_p.G48W			Q5HYL7	TM196_HUMAN	transmembrane protein 196	122						integral to membrane				breast(1)|large_intestine(1)|lung(4)	6						GTGCAGCCCCCGATCCCAATG	0.527000													17	47					1.99824e-07	2.65391e-07	1	1	0
USP13	8975	broad.mit.edu	37	3	179439297	179439297	+	Silent	SNP	G	G	T	rs115755648	byFrequency	TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr3:179439297G>T	ENST00000263966.3	+	8	1479	c.1008G>T	c.(1006-1008)acG>acT	p.T336T	USP13_ENST00000496897.1_Silent_p.T271T|USP13_ENST00000482333.1_3'UTR	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	336					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			CTGGCTACACGGGTCTGAAGA	0.537000													22	39					1.96292e-10	2.82794e-10	1	1	0
ACTRT1	139741	broad.mit.edu	37	X	127186073	127186073	+	Missense_Mutation	SNP	A	A	G			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chrX:127186073A>G	ENST00000371124.3	-	1	309	c.113T>C	c.(112-114)gTc>gCc	p.V38A		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	38						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						ATGTCCCAAGACGGAGCTGAT	0.468000													15	49					0	0	1	0	0
SLAMF9	89886	broad.mit.edu	37	1	159922325	159922325	+	Splice_Site	SNP	C	C	G			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr1:159922325C>G	ENST00000368093.3	-	3	508		c.e3-1		SLAMF9_ENST00000368092.3_Intron|SLAMF9_ENST00000466773.1_Splice_Site	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9							integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GACAGCCATCCTGGATGAAGG	0.527000													8	110					0	0	1	0	0
CNGA2	1260	broad.mit.edu	37	X	150912485	150912485	+	Missense_Mutation	SNP	G	G	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chrX:150912485G>A	ENST00000329903.4	+	6	1543	c.1510G>A	c.(1510-1512)Gat>Aat	p.D504N		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	504					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					AGTGGTGGCTGATGATGGTGT	0.517000													40	36					0	0	1	0	0
OR4L1	122742	broad.mit.edu	37	14	20528829	20528829	+	Missense_Mutation	SNP	C	C	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr14:20528829C>T	ENST00000315683.1	+	1	626	c.626C>T	c.(625-627)aCc>aTc	p.T209I		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CTCTCTTTCACCTGTTTCATC	0.443000													16	98					0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55223780	55223780	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr6:55223780G>T	ENST00000340465.2	+	6	882	c.796G>T	c.(796-798)Gac>Tac	p.D266Y		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	266						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AAGCAAACAGGACCTCACTTG	0.443000													5	69					1.024e-07	1.38709e-07	1	1	0
SS18L1	26039	broad.mit.edu	37	20	60735004	60735004	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr20:60735004C>A	ENST00000331758.3	+	3	244	c.218C>A	c.(217-219)tCc>tAc	p.S73Y	SS18L1_ENST00000421564.1_Missense_Mutation_p.S73Y|SS18L1_ENST00000370848.4_Missense_Mutation_p.S76Y	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1	73	N-terminal auto-inhibitory domain; necessary for interaction with SMARCA4/BRG1 (By similarity).				chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			AACATGCAGTCCCTGCTTCCT	0.597000			T	SSX1	synovial sarcoma								5	12					0.014758	0.0154391	1	1	0
OR2G3	81469	broad.mit.edu	37	1	247769095	247769095	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr1:247769095G>T	ENST00000320002.2	+	1	240	c.208G>T	c.(208-210)Gac>Tac	p.D70Y	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTCTTTACTGGACATCTGCTT	0.448000													92	233					1.16668e-32	2.07681e-32	1	1	0
TRMT11	60487	broad.mit.edu	37	6	126329582	126329582	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr6:126329582G>T	ENST00000334379.5	+	8	845	c.724G>T	c.(724-726)Ggg>Tgg	p.G242W	TRMT11_ENST00000450358.1_Missense_Mutation_p.G242W|TRMT11_ENST00000368332.3_Missense_Mutation_p.G242W	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	242					tRNA processing		methyltransferase activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		ATATGTGTATGGGACAGACAT	0.403000													15	91					1.02788e-11	1.53956e-11	1	1	0
NLRP12	91662	broad.mit.edu	37	19	54307321	54307321	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr19:54307321C>A	ENST00000324134.6	-	6	2638	c.2470G>T	c.(2470-2472)Ggc>Tgc	p.G824C	NLRP12_ENST00000351894.4_Missense_Mutation_p.G824C|NLRP12_ENST00000345770.5_Missense_Mutation_p.G825C|NLRP12_ENST00000391773.1_Missense_Mutation_p.G825C|NLRP12_ENST00000391775.3_Missense_Mutation_p.G824C|NLRP12_ENST00000391772.1_Missense_Mutation_p.G825C|NLRP12_ENST00000535162.1_Missense_Mutation_p.G824C|NLRP12_ENST00000354278.3_Missense_Mutation_p.G824C	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	824					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GGGTTGGTGCCGAGCACAGAA	0.562000													9	27					0.000274275	0.000312931	1	1	0
AEBP1	165	broad.mit.edu	37	7	44151646	44151646	+	Missense_Mutation	SNP	G	G	C			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr7:44151646G>C	ENST00000223357.3	+	16	2339	c.2034G>C	c.(2032-2034)caG>caC	p.Q678H	AEBP1_ENST00000450684.2_Missense_Mutation_p.Q253H	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	678	Interaction with PTEN (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						TGGCAGCGCAGATGGTGGGTT	0.657000													5	44					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48392059	48392059	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr7:48392059C>A	ENST00000435803.1	+	31	10687	c.10663C>A	c.(10663-10665)Cct>Act	p.P3555T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3555					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						TCAGGCGGCCCCTTACCCCTG	0.572000													8	8					7.48243e-07	9.52819e-07	1	1	0
PRAMEF12	390999	broad.mit.edu	37	1	12835281	12835281	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr1:12835281C>A	ENST00000357726.4	+	1	298	c.271C>A	c.(271-273)Cag>Aag	p.Q91K		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	91										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACTGCTTGCCCAGAAGGTTCG	0.597000													28	42					2.12542e-12	3.22608e-12	1	1	0
WSCD2	9671	broad.mit.edu	37	12	108634153	108634153	+	Missense_Mutation	SNP	G	G	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr12:108634153G>A	ENST00000332082.4	+	9	1995	c.1177G>A	c.(1177-1179)Gga>Aga	p.G393R	WSCD2_ENST00000549903.1_Missense_Mutation_p.G393R|WSCD2_ENST00000547525.1_Missense_Mutation_p.G393R|WSCD2_ENST00000261400.3_Missense_Mutation_p.G393R			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	393						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CTGGCGCAGCGGACGGACCAT	0.607000													22	200					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123227198	123227198	+	Missense_Mutation	SNP	G	G	C			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr4:123227198G>C	ENST00000264501.4	+	57	10212	c.9839G>C	c.(9838-9840)aGa>aCa	p.R3280T	KIAA1109_ENST00000455637.1_Missense_Mutation_p.R3280T|KIAA1109_ENST00000388738.3_Missense_Mutation_p.R3280T			Q2LD37	K1109_HUMAN	KIAA1109	3280					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		p.R3280T(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GCCTTTGATAGAGGTAAGATA	0.393000													6	51					0	0	1	0	0
PPP1R12B	4660	broad.mit.edu	37	1	202462265	202462265	+	Missense_Mutation	SNP	A	A	C			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr1:202462265A>C	ENST00000406302.3	+	15	2118	c.1965A>C	c.(1963-1965)caA>caC	p.Q655H	PPP1R12B_ENST00000290419.5_3'UTR|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.Q655H|PPP1R12B_ENST00000391959.3_5'UTR|PPP1R12B_ENST00000367270.4_5'UTR	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	655					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			CAGACCTTCAAGAAGCAGAAA	0.512000													13	149					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162307071	162307071	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr4:162307071C>A	ENST00000306100.5	-	16	2808	c.2372G>T	c.(2371-2373)tGg>tTg	p.W791L	RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000379164.4_Missense_Mutation_p.W790L|FSTL5_ENST00000536695.1_Missense_Mutation_p.W790L|FSTL5_ENST00000427802.2_Missense_Mutation_p.W781L	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	791						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GTTCCAAGGCCATTCTTCTGC	0.473000													27	65					8.24728e-16	1.32895e-15	1	1	0
FLG	2312	broad.mit.edu	37	1	152283723	152283723	+	Silent	SNP	G	G	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr1:152283723G>T	ENST00000368799.1	-	3	3674	c.3639C>A	c.(3637-3639)tcC>tcA	p.S1213S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1213	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGCACTTCTGGATCCTGACT	0.552000									Ichthyosis				93	550					6.15735e-50	1.11356e-49	1	1	0
CNTNAP4	85445	broad.mit.edu	37	16	76495878	76495878	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr16:76495878G>T	ENST00000307431.8	+	10	1741	c.1356G>T	c.(1354-1356)tgG>tgT	p.W452C	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.W380C|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.W456C|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.W404C	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	453	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						ATGGGCAGTGGCATTCTGTCT	0.448000													10	41					0.000673444	0.000753194	1	1	0
LAMC3	10319	broad.mit.edu	37	9	133914556	133914556	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr9:133914556G>T	ENST00000361069.4	+	6	1337	c.1204G>T	c.(1204-1206)Gcc>Tcc	p.A402S	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	402	Laminin EGF-like 3.				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)		AGGCACCTGCGCCTGCAAGCC	0.667000													13	26					1.61879e-10	2.35209e-10	1	1	0
OR2G3	81469	broad.mit.edu	37	1	247769094	247769094	+	Silent	SNP	G	G	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr1:247769094G>T	ENST00000320002.2	+	1	239	c.207G>T	c.(205-207)ctG>ctT	p.L69L	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TCTCTTTACTGGACATCTGCT	0.448000													90	232					4.02937e-33	7.21045e-33	1	1	0
POU6F2	11281	broad.mit.edu	37	7	39491135	39491135	+	Missense_Mutation	SNP	C	C	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr7:39491135C>T	ENST00000518318.2	+	8	1279	c.1237C>T	c.(1237-1239)Cac>Tac	p.H413Y	POU6F2_ENST00000403058.1_Missense_Mutation_p.H413Y|POU6F2_ENST00000559001.1_Missense_Mutation_p.H358Y			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	413	Gln-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CATGTAGCTCCACCAACCCTC	0.473000													3	22					0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21467117	21467117	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr3:21467117G>T	ENST00000281523.2	-	6	1237	c.719C>A	c.(718-720)aCt>aAt	p.T240N		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	240						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GGCTTTGATAGTGCCACTTCC	0.438000													18	27					0.000566183	0.000637425	1	1	0
OR6F1	343169	broad.mit.edu	37	1	247876032	247876032	+	Missense_Mutation	SNP	G	G	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr1:247876032G>A	ENST00000302084.2	-	1	73	c.26C>T	c.(25-27)cCc>cTc	p.P9L	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AAAGTCCTGGGGCAGAGTTTT	0.448000													12	105					0	0	1	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29511436	29511436	+	Missense_Mutation	SNP	T	T	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr18:29511436T>A	ENST00000283351.4	-	2	543	c.208A>T	c.(208-210)Ata>Tta	p.I70L	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.I16L|TRAPPC8_ENST00000584876.1_5'UTR|TRAPPC8_ENST00000582513.1_Missense_Mutation_p.I70L	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	70					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTTACTGCTATCTTCAAATTT	0.363000													18	67					0	0	1	0	0
CFHR4	10877	broad.mit.edu	37	1	196887426	196887426	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr1:196887426G>T	ENST00000367416.2	+	10	1761	c.1624G>T	c.(1624-1626)Ggg>Tgg	p.G542W	CFHR4_ENST00000251424.4_Missense_Mutation_p.G296W|CFHR4_ENST00000367418.1_Missense_Mutation_p.G296W|CFHR2_ENST00000367421.3_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						TGCAAAAACAGGGGATACCAT	0.318000													49	41					6.31075e-24	1.08366e-23	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113293414	113293414	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr8:113293414G>T	ENST00000297405.5	-	59	9741	c.9497C>A	c.(9496-9498)cCt>cAt	p.P3166H	CSMD3_ENST00000455883.2_Missense_Mutation_p.P2997H|CSMD3_ENST00000343508.3_Missense_Mutation_p.P3126H|CSMD3_ENST00000352409.3_Missense_Mutation_p.P3096H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3166	Sushi 23.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGTACAGTTAGGTAAAGTTCC	0.313000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			5	70					0.184627	0.188508	1	1	0
FOLR4	390243	broad.mit.edu	37	11	94040649	94040649	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr11:94040649C>A	ENST00000440961.2	+	4	567	c.523C>A	c.(523-525)Cca>Aca	p.P175T		NM_001199206.1	NP_001186135.1	A6ND01	FOLR4_HUMAN	folate receptor 4, delta (putative)	182						extracellular region	folic acid binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						CTTCCCCACCCCAGCTGACCT	0.592000													28	64					1.5548e-18	2.55378e-18	1	1	0
BEST3	144453	broad.mit.edu	37	12	70070785	70070785	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr12:70070785G>T	ENST00000330891.5	-	7	1004	c.778C>A	c.(778-780)Ccc>Acc	p.P260T	BEST3_ENST00000553096.1_Missense_Mutation_p.P154T|BEST3_ENST00000331471.4_Missense_Mutation_p.P260T|BEST3_ENST00000488961.1_Intron|BEST3_ENST00000476098.1_Intron	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	260						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CCTTTGGTGGGATCCAAAAAC	0.498000													28	40					1.7881e-09	2.50187e-09	1	1	0
STK32B	55351	broad.mit.edu	37	4	5332966	5332966	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr4:5332966G>T	ENST00000282908.5	+	4	702	c.280G>T	c.(280-282)Gag>Tag	p.E94*	STK32B_ENST00000512636.1_Nonsense_Mutation_p.E47*|STK32B_ENST00000510398.1_Nonsense_Mutation_p.E47*	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	94	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						CCAGGATGAGGAGGACATGTT	0.527000													19	27					1.33834e-09	1.88031e-09	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113293413	113293413	+	Silent	SNP	A	A	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr8:113293413A>T	ENST00000297405.5	-	59	9742	c.9498T>A	c.(9496-9498)ccT>ccA	p.P3166P	CSMD3_ENST00000455883.2_Silent_p.P2997P|CSMD3_ENST00000343508.3_Silent_p.P3126P|CSMD3_ENST00000352409.3_Silent_p.P3096P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3166	Sushi 23.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTGTACAGTTAGGTAAAGTTC	0.313000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			5	70					0	0	1	0	0
DACH1	1602	broad.mit.edu	37	13	72147052	72147052	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr13:72147052G>T	ENST00000305425.4	-	4	1647	c.1225C>A	c.(1225-1227)Cac>Aac	p.H409N	DACH1_ENST00000354591.4_Intron|DACH1_ENST00000313174.7_Intron|DACH1_ENST00000359684.2_Missense_Mutation_p.H461N	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	459					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	p.H409N(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		GTGCTGAGGTGGTTCATCTGG	0.443000													11	44					0.0692343	0.0715491	1	1	0
UGT2A2	574537	broad.mit.edu	37	4	70504927	70504927	+	Silent	SNP	C	C	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr4:70504927C>T	ENST00000457664.2	-	1	431	c.432G>A	c.(430-432)ttG>ttA	p.L144L	UGT2A1_ENST00000503640.1_Intron|UGT2A1_ENST00000286604.4_Intron|UGT2A1_ENST00000512704.1_Intron|UGT2A1_ENST00000514019.1_Silent_p.L345L	NM_001105677.2	NP_001099147.2																					GTCTTGCCATCAACTTTGGGT	0.373000													11	32					0	0	1	0	0
P2RX5-TAX1BP3	100533970	broad.mit.edu	37	17	3593973	3593973	+	Splice_Site	SNP	T	T	C			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr17:3593973T>C	ENST00000550383.1	-	4	550	c.360_splice	c.e4-1	p.N121_splice	P2RX5_ENST00000552276.1_Splice_Site_p.N121_splice|P2RX5_ENST00000225328.5_Splice_Site_p.N121_splice|P2RX5_ENST00000551178.1_Splice_Site_p.N97_splice|P2RX5_ENST00000547178.1_Splice_Site_p.N121_splice|P2RX5_ENST00000345901.3_Splice_Site_p.N97_splice|P2RX5_ENST00000552050.1_Splice_Site_p.N61_splice|P2RX5_ENST00000435558.1_Splice_Site_p.N121_splice																							AATGCCTTCATTCTGCCAGGA	0.642000													12	22					0	0	1	0	0
TSGA10	80705	broad.mit.edu	37	2	99651799	99651799	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr2:99651799G>T	ENST00000393483.3	-	17	2352	c.1508C>A	c.(1507-1509)tCc>tAc	p.S503Y	TSGA10_ENST00000410001.1_Missense_Mutation_p.S503Y|TSGA10_ENST00000355053.4_Missense_Mutation_p.S503Y|TSGA10_ENST00000539964.1_Missense_Mutation_p.S503Y	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	503					spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						TGCAAGAGCGGACACTTTTTC	0.368000													18	34					9.16793e-09	1.25185e-08	1	1	0
NPAP1	23742	broad.mit.edu	37	15	24922699	24922699	+	Missense_Mutation	SNP	C	C	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr15:24922699C>T	ENST00000329468.2	+	1	2159	c.1685C>T	c.(1684-1686)tCt>tTt	p.S562F		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		ACAAACGCATCTGCCCACCTA	0.483000													17	70					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	77746950	77746950	+	Silent	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr2:77746950C>A	ENST00000409088.3	-	3	459	c.45G>T	c.(43-45)gtG>gtT	p.V15V	LRRTM4_ENST00000409093.1_Silent_p.V15V|LRRTM4_ENST00000409911.1_Silent_p.V16V|LRRTM4_ENST00000409282.1_Silent_p.V16V|LRRTM4_ENST00000409884.1_Silent_p.V15V	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	15						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GTAGCACCAGCACCACACTCA	0.428000													7	17					5.18039e-06	6.42822e-06	1	1	0
GRM8	2918	broad.mit.edu	37	7	126173493	126173493	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr7:126173493C>A	ENST00000339582.2	-	9	2751	c.1943G>T	c.(1942-1944)tGc>tTc	p.C648F	GRM8_ENST00000444921.2_Missense_Mutation_p.C648F|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.C648F			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	648					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TCGGAAGGAGCATATGATTGT	0.463000										HNSCC(24;0.065)			9	51					0.00621372	0.00654075	1	1	0
SNCAIP	9627	broad.mit.edu	37	5	121786712	121786712	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr5:121786712C>A	ENST00000261367.7	+	12	3739	c.2311C>A	c.(2311-2313)Cac>Aac	p.H771N	SNCAIP_ENST00000542191.1_Missense_Mutation_p.H282N|SNCAIP_ENST00000261368.8_Missense_Mutation_p.H724N|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000379538.3_Missense_Mutation_p.H358N|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.H664N|CTC-210G5.1_ENST00000505546.1_RNA|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000379533.2_Missense_Mutation_p.H771N|SNCAIP_ENST00000414317.2_Missense_Mutation_p.H326N|SNCAIP_ENST00000504884.2_3'UTR			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	724					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GATTAAGAAACACACCTTGGC	0.562000													7	38					0.248553	0.249286	1	1	0
SSTR4	6754	broad.mit.edu	37	20	23016434	23016434	+	Nonsense_Mutation	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr20:23016434C>A	ENST00000255008.3	+	1	378	c.314C>A	c.(313-315)tCg>tAg	p.S105*	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	105					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TTCGTGGCCTCGTCGGCCGCC	0.637000													51	111					2.43468e-25	4.20199e-25	1	1	0
ACSBG1	23205	broad.mit.edu	37	15	78526712	78526712	+	Splice_Site	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr15:78526712C>A	ENST00000258873.4	-	1	337		c.e1+1		ACSBG1_ENST00000558828.1_Intron|ACSBG1_ENST00000560817.1_Intron|ACSBG1_ENST00000541759.1_Splice_Site	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1						long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CAATGACTTACCTGGTTTTCA	0.552000													65	92					1.12612e-26	1.97361e-26	1	1	0
GJC3	349149	broad.mit.edu	37	7	99526821	99526821	+	Silent	SNP	C	C	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr7:99526821C>T	ENST00000312891.2	-	1	422	c.423G>A	c.(421-423)ctG>ctA	p.L141L		NM_181538.2	NP_853516.1	Q8NFK1	CXG3_HUMAN	gap junction protein, gamma 3, 30.2kDa	141						connexon complex|integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GCCGAGCCCCCAGCTGAGCCA	0.637000													10	102					0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107323961	107323961	+	Missense_Mutation	SNP	T	T	C			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr7:107323961T>C	ENST00000265715.3	+	8	1204	c.980T>C	c.(979-981)aTt>aCt	p.I327T		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	327					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						AATGCTGGCATTGTTAAATCC	0.328000									Pendred syndrome				13	14					0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	63005563	63005563	+	Splice_Site	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr1:63005563C>A	ENST00000251157.5	-	26	3079	c.3045_splice	c.e26-1	p.V1016_splice	DOCK7_ENST00000340370.5_Splice_Site_p.V985_splice	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1016					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						ATGCTCTTTACCTGAAAAAAA	0.299000													6	14					0.00116845	0.0012774	1	1	0
LRRC66	339977	broad.mit.edu	37	4	52861217	52861217	+	Silent	SNP	T	T	C			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr4:52861217T>C	ENST00000343457.3	-	4	1977	c.1971A>G	c.(1969-1971)ccA>ccG	p.P657P		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	657						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GGTCACCGTATGGAACCTCGC	0.547000													10	44					0	0	1	0	0
IL31RA	133396	broad.mit.edu	37	5	55212517	55212517	+	Missense_Mutation	SNP	G	G	C			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr5:55212517G>C	ENST00000396834.1	+	17	2303	c.1807G>C	c.(1807-1809)Gac>Cac	p.D603H	IL31RA_ENST00000359040.5_Missense_Mutation_p.D622H|IL31RA_ENST00000447346.2_Missense_Mutation_p.D622H|IL31RA_ENST00000490985.1_Missense_Mutation_p.D480H|IL31RA_ENST00000354961.4_Missense_Mutation_p.D603H	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	590					anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				GAACACAGAAGACAGGATCTT	0.418000													6	46					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			5	18					3.59834e-05	4.26284e-05	1	1	0
PTCHD4	442213	broad.mit.edu	37	6	47847287	47847287	+	Missense_Mutation	SNP	T	T	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr6:47847287T>A	ENST00000339488.4	-	3	1326	c.1293A>T	c.(1291-1293)caA>caT	p.Q431H		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	431						integral to membrane	hedgehog receptor activity										GGGACGTCTGTTGATGCCCAT	0.458000													7	50					0	0	1	0	0
ISL1	3670	broad.mit.edu	37	5	50683527	50683527	+	Missense_Mutation	SNP	T	T	G			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr5:50683527T>G	ENST00000230658.7	+	3	1007	c.422T>G	c.(421-423)cTa>cGa	p.L141R	ISL1_ENST00000511384.1_Missense_Mutation_p.L141R|ISL1_ENST00000505475.2_3'UTR	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	141					generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				AGGGCCAGTCTAGGCGCTGGC	0.667000													20	40					0	0	1	0	0
PYHIN1	149628	broad.mit.edu	37	1	158911890	158911890	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr1:158911890C>A	ENST00000368140.1	+	5	948	c.703C>A	c.(703-705)Caa>Aaa	p.Q235K	PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000368138.3_Missense_Mutation_p.Q226K|PYHIN1_ENST00000392252.3_Missense_Mutation_p.Q226K|PYHIN1_ENST00000392254.2_Missense_Mutation_p.Q235K	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	235	HIN-200.				cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AGAAAATGAGCAAAGAAGAAT	0.348000													23	41					6.36457e-07	8.1968e-07	1	1	0
GALNT8	26290	broad.mit.edu	37	12	4874713	4874713	+	Splice_Site	SNP	G	G	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr12:4874713G>T	ENST00000252318.2	+	10	2098		c.e10+1			NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)							Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						TTTTAAACCGGTGAGTTATGT	0.458000													8	30					0.00307968	0.00330313	1	1	0
RAB3B	5865	broad.mit.edu	37	1	52442607	52442607	+	Silent	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr1:52442607C>A	ENST00000371655.3	-	2	395	c.183G>T	c.(181-183)gtG>gtT	p.V61V		NM_002867.3	NP_002858.2	P20337	RAB3B_HUMAN	RAB3B, member RAS oncogene family	61					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9						AGACTGTCTTCACCTTGAAGT	0.562000													11	45					0.0692343	0.0715491	1	1	0
USP9X	8239	broad.mit.edu	37	X	40999908	40999908	+	Splice_Site	SNP	G	G	C			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chrX:40999908G>C	ENST00000324545.7	+	7	1287		c.e7-1		USP9X_ENST00000378308.2_Splice_Site	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TTGTGTTACAGGGTTGGCTAG	0.299000													8	23					0	0	1	0	0
ANKRD52	283373	broad.mit.edu	37	12	56638554	56638554	+	Silent	SNP	C	C	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr12:56638554C>T	ENST00000267116.7	-	24	2725	c.2604G>A	c.(2602-2604)gcG>gcA	p.A868A		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	868							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						AGACATTGTCCGCGAAGGCAG	0.592000													8	62					0	0	1	0	0
SMC2	10592	broad.mit.edu	37	9	106877102	106877102	+	Missense_Mutation	SNP	G	G	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr9:106877102G>A	ENST00000286398.7	+	13	1951	c.1663G>A	c.(1663-1665)Gac>Aac	p.D555N	SMC2_ENST00000303219.8_Missense_Mutation_p.D555N|SMC2_ENST00000374793.3_Missense_Mutation_p.D555N|SMC2_ENST00000374787.3_Missense_Mutation_p.D555N	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	555	Flexible hinge.				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TGTTGTAGTAGACACAGAAGT	0.333000													9	37					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103095306	103095306	+	Missense_Mutation	SNP	C	C	G			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr2:103095306C>G	ENST00000295269.4	+	2	722	c.265C>G	c.(265-267)Ctc>Gtc	p.L89V		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	89					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						AGGCTTCCACCTCTACCACAG	0.582000													29	60					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141751626	141751626	+	Missense_Mutation	SNP	C	C	G			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr2:141751626C>G	ENST00000389484.3	-	16	3553	c.2582G>C	c.(2581-2583)cGg>cCg	p.R861P		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	861	LDL-receptor class A 3.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACATTTCCACCGAGCTTGGAT	0.428000										TSP Lung(27;0.18)			20	64					0	0	1	0	0
OR5L1	219437	broad.mit.edu	37	11	55579745	55579745	+	Missense_Mutation	SNP	G	G	C			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr11:55579745G>C	ENST00000333973.2	+	1	892	c.803G>C	c.(802-804)gGa>gCa	p.G268A		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GGCAATAGTGGAGATGCTGAC	0.478000													27	34					0	0	1	0	0
WAC	51322	broad.mit.edu	37	10	28905236	28905236	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr10:28905236G>T	ENST00000375664.3	+	12	2165	c.1556G>T	c.(1555-1557)aGt>aTt	p.S519I	WAC_ENST00000375646.1_Missense_Mutation_p.S412I|WAC_ENST00000354911.4_Missense_Mutation_p.S564I|WAC_ENST00000347934.4_Missense_Mutation_p.S461I			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	564					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						GCACACTTCAGTGAAAATCTC	0.413000													20	28					8.00594e-06	9.89825e-06	1	1	0
ZNF621	285268	broad.mit.edu	37	3	40574037	40574037	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr3:40574037G>T	ENST00000339296.5	+	5	1228	c.776G>T	c.(775-777)gGa>gTa	p.G259V	ZNF621_ENST00000403205.2_Missense_Mutation_p.G259V|ZNF621_ENST00000310898.1_Intron|ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000431278.1_Missense_Mutation_p.G148V	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	259					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		TTACACACGGGAGAGAAACTC	0.433000													9	45					2.17888e-05	2.60851e-05	1	1	0
GRIN2B	2904	broad.mit.edu	37	12	13906594	13906594	+	Missense_Mutation	SNP	G	G	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr12:13906594G>A	ENST00000279593.3	-	3	876	c.667C>T	c.(667-669)Ctt>Ttt	p.L223F		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	223					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGGCTTTGAAGTTTCTTGAGC	0.488000													23	68					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32496962	32496962	+	Missense_Mutation	SNP	C	C	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr21:32496962C>T	ENST00000286827.3	-	28	4655	c.4184G>A	c.(4183-4185)cGt>cAt	p.R1395H	TIAM1_ENST00000541036.1_Missense_Mutation_p.R1335H	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1395	PH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GTGCTTATCACGCAGGATTGA	0.483000													6	33					0	0	1	0	0
FAM170A	340069	broad.mit.edu	37	5	118969670	118969670	+	Missense_Mutation	SNP	A	A	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr5:118969670A>T	ENST00000515256.1	+	3	399	c.227A>T	c.(226-228)cAt>cTt	p.H76L				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	76						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						CAGAGAATACATCGAGACAGC	0.522000													8	47					0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34962455	34962455	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chrX:34962455G>T	ENST00000329357.5	+	1	1543	c.1507G>T	c.(1507-1509)Gag>Tag	p.E503*		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	503								p.E503K(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GAAGGCAAACGAGTGTGCTTC	0.488000													21	88					4.35082e-09	6.01332e-09	1	1	0
GAL3ST1	9514	broad.mit.edu	37	22	30951465	30951465	+	Silent	SNP	C	C	G			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr22:30951465C>G	ENST00000402321.1	-	3	1064	c.747G>C	c.(745-747)gtG>gtC	p.V249V	GAL3ST1_ENST00000402369.1_Silent_p.V249V|GAL3ST1_ENST00000401975.1_Silent_p.V249V|GAL3ST1_ENST00000443111.2_Silent_p.V249V|GAL3ST1_ENST00000338911.5_Silent_p.V249V|GAL3ST1_ENST00000406361.1_Silent_p.V249V|GAL3ST1_ENST00000406955.1_Silent_p.V249V			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	249					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						CTTGAAGGAGCACCAGGTGGA	0.622000													38	70					0	0	1	0	0
TARS	6897	broad.mit.edu	37	5	33459816	33459816	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr5:33459816G>T	ENST00000265112.3	+	11	1411	c.1100G>T	c.(1099-1101)aGa>aTa	p.R367I	TARS_ENST00000502553.1_Missense_Mutation_p.R367I|TARS_ENST00000414361.2_Missense_Mutation_p.R246I|TARS_ENST00000541634.1_Missense_Mutation_p.R263I|TARS_ENST00000455217.2_Missense_Mutation_p.R400I	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	367					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TATAGGAAAAGAGGATTCCAG	0.423000													14	54					2.31682e-05	2.75426e-05	1	1	0
IFIH1	64135	broad.mit.edu	37	2	163124717	163124717	+	Missense_Mutation	SNP	T	T	C			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr2:163124717T>C	ENST00000263642.2	-	14	3082	c.2687A>G	c.(2686-2688)tAc>tGc	p.Y896C		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	896					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						GTTATTCTTGTAATGCTTGGC	0.358000													5	27					0	0	1	0	0
TCP1	6950	broad.mit.edu	37	6	160200815	160200815	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr6:160200815C>A	ENST00000321394.7	-	11	1578	c.1298G>T	c.(1297-1299)cGg>cTg	p.R433L	TCP1_ENST00000392168.2_Missense_Mutation_p.R278L|TCP1_ENST00000420894.2_Intron|TCP1_ENST00000544255.1_Missense_Mutation_p.R209L	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1	433					'de novo' posttranslational protein folding|tubulin complex assembly	cell junction|Golgi apparatus	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		AAGCTGTTCCCGAGACCCCTA	0.428000													6	22					0.00198382	0.00214126	1	1	0
HYDIN	54768	broad.mit.edu	37	16	71220769	71220769	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr16:71220769C>A	ENST00000393567.2	-	2	180	c.30G>T	c.(28-30)atG>atT	p.M10I	HYDIN_ENST00000393550.2_Missense_Mutation_p.M10I|HYDIN_ENST00000538248.1_Missense_Mutation_p.M37I|HYDIN_ENST00000288168.10_Missense_Mutation_p.M27I|HYDIN_ENST00000321489.5_Missense_Mutation_p.M10I|HYDIN_ENST00000448089.2_Missense_Mutation_p.M10I|HYDIN_ENST00000541601.1_Missense_Mutation_p.M27I|HYDIN_ENST00000448691.1_Missense_Mutation_p.M10I	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	10										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GAACAGCCCCCATGGACTCCT	0.378000													21	40					1.10513e-12	1.69255e-12	1	1	0
TRIP12	9320	broad.mit.edu	37	2	230650530	230650530	+	Silent	SNP	A	A	C			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr2:230650530A>C	ENST00000283943.5	-	33	4990	c.4812T>G	c.(4810-4812)tcT>tcG	p.S1604S	TRIP12_ENST00000389045.3_Silent_p.S1334S|TRIP12_ENST00000389044.4_Silent_p.S1652S	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1604					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CCTGCATCACAGACTCCGCCT	0.458000													11	55					0	0	1	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65199616	65199616	+	Missense_Mutation	SNP	T	T	C			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr14:65199616T>C	ENST00000247226.7	+	10	1482	c.1174T>C	c.(1174-1176)Tct>Cct	p.S392P	PLEKHG3_ENST00000394691.1_Missense_Mutation_p.S448P	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	448	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GCGCCGGCAATCTGGTAAGAG	0.642000													3	7					0	0	1	0	0
SERPINA5	5104	broad.mit.edu	37	14	95053977	95053977	+	Missense_Mutation	SNP	A	A	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr14:95053977A>T	ENST00000329597.7	+	3	488	c.278A>T	c.(277-279)gAg>gTg	p.E93V	SERPINA5_ENST00000554866.1_Missense_Mutation_p.E93V|SERPINA5_ENST00000553780.1_Missense_Mutation_p.E93V|SERPINA5_ENST00000554276.1_Missense_Mutation_p.E93V	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	93					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CAGATCCTGGAGGGCCTGGGC	0.597000													6	22					0	0	1	0	0
GPRC5D	55507	broad.mit.edu	37	12	13102545	13102545	+	Missense_Mutation	SNP	G	G	C	rs142627612		TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr12:13102545G>C	ENST00000228887.1	-	1	773	c.774C>G	c.(772-774)atC>atG	p.I258M	RP11-392P7.6_ENST00000540198.1_RNA|RP11-392P7.6_ENST00000536029.1_RNA|RP11-392P7.6_ENST00000543515.2_RNA|RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000545914.1_RNA|GPRC5D_ENST00000396333.3_Missense_Mutation_p.I258M|RP11-392P7.6_ENST00000394742.3_RNA	NM_018654.1	NP_061124.1	Q9NZD1	GPC5D_HUMAN	G protein-coupled receptor, family C, group 5, member D	258						integral to membrane|plasma membrane	G-protein coupled receptor activity			kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		GCTCAGGGACGATGTACAGCA	0.577000													37	90					0	0	1	0	0
CRYGB	1419	broad.mit.edu	37	2	209010608	209010608	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr2:209010608G>T	ENST00000260988.4	-	2	189	c.142C>A	c.(142-144)Cgc>Agc	p.R48S		NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN	crystallin, gamma B	48	Beta/gamma crystallin 'Greek key' 2.				visual perception		structural constituent of eye lens			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		TAGTTGGGGCGCTCATAGATC	0.607000													18	56					1.02788e-11	1.53956e-11	1	1	0
NR2F1	7025	broad.mit.edu	37	5	92923651	92923651	+	Silent	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr5:92923651C>A	ENST00000327111.3	+	2	2179	c.492C>A	c.(490-492)acC>acA	p.T164T		NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	164					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		TGCCTCCAACCCAGCCCAATC	0.607000													12	83					0.00010058	0.000116714	1	1	0
PCDH11X	27328	broad.mit.edu	37	X	91133758	91133758	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chrX:91133758C>A	ENST00000373094.1	+	2	3364	c.2519C>A	c.(2518-2520)cCa>cAa	p.P840Q	PCDH11X_ENST00000406881.1_Missense_Mutation_p.P840Q|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P840Q|PCDH11X_ENST00000504220.1_Missense_Mutation_p.P840Q|PCDH11X_ENST00000373097.1_Missense_Mutation_p.P840Q|PCDH11X_ENST00000395337.2_Missense_Mutation_p.P840Q|PCDH11X_ENST00000361724.1_Missense_Mutation_p.P840Q|PCDH11X_ENST00000361655.2_Missense_Mutation_p.P840Q|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P840Q	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	840					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CGCCAGGCACCACACCTTAAG	0.433000													18	59					1.28384e-07	1.71179e-07	1	1	0
DNAH1	25981	broad.mit.edu	37	3	52360261	52360261	+	Missense_Mutation	SNP	A	A	G			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr3:52360261A>G	ENST00000420323.2	+	4	773	c.512A>G	c.(511-513)tAc>tGc	p.Y171C		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	171	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTGCAGGCCTACGAGCCCAAG	0.617000													5	10					0	0	1	0	0
ANKRD33	341405	broad.mit.edu	37	12	52284949	52284949	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr12:52284949G>T	ENST00000301190.6	+	5	1446	c.1219G>T	c.(1219-1221)Gca>Tca	p.A407S	ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_Intron|ANKRD33_ENST00000340970.4_Intron	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	0										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		CCTCTCCAAGGCATCCTCATC	0.592000													21	45					1.55795e-14	2.45232e-14	1	1	0
CDH20	28316	broad.mit.edu	37	18	59206296	59206296	+	Missense_Mutation	SNP	A	A	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr18:59206296A>T	ENST00000262717.4	+	9	1846	c.1448A>T	c.(1447-1449)aAa>aTa	p.K483I	CDH20_ENST00000536675.2_Missense_Mutation_p.K483I|CDH20_ENST00000538374.1_Missense_Mutation_p.K483I			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	483	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GTCACAATCAAAGTCTTAGAT	0.438000													26	78					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108380319	108380319	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr11:108380319G>T	ENST00000265843.4	-	6	6025	c.5915C>A	c.(5914-5916)aCa>aAa	p.T1972K	EXPH5_ENST00000428840.1_Missense_Mutation_p.T1896K|EXPH5_ENST00000443411.1_Missense_Mutation_p.T1784K|EXPH5_ENST00000525344.1_Missense_Mutation_p.T1965K	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1972					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)		ATCTGTGGTTGTGTCTGTGTC	0.393000													47	45					7.34454e-26	1.27405e-25	1	1	0
FOXI1	2299	broad.mit.edu	37	5	169535349	169535349	+	Missense_Mutation	SNP	G	G	T	rs148265639		TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr5:169535349G>T	ENST00000449804.2	+	2	631	c.586G>T	c.(586-588)Ggg>Tgg	p.G196W	FOXI1_ENST00000306268.6_Missense_Mutation_p.G291W	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	forkhead box I1	291					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTATGTGAGCGGGGGGAGCCC	0.637000									Pendred syndrome				9	76					7.48243e-07	9.52819e-07	1	1	0
OR1L8	138881	broad.mit.edu	37	9	125330011	125330011	+	Missense_Mutation	SNP	A	A	G			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr9:125330011A>G	ENST00000304865.2	-	1	827	c.746T>C	c.(745-747)gTg>gCg	p.V249A		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						AAAGAGCGTCACCACGGTGAG	0.458000													8	24					0	0	1	0	0
BHLHE22	27319	broad.mit.edu	37	8	65494345	65494345	+	Missense_Mutation	SNP	C	C	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr8:65494345C>T	ENST00000321870.1	+	1	1532	c.998C>T	c.(997-999)gCc>gTc	p.A333V	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	333	Ala-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						GCAGCTGCTGCCCTGCACCCG	0.726000													6	15					0	0	1	0	0
FRS3	10817	broad.mit.edu	37	6	41738548	41738548	+	Missense_Mutation	SNP	G	G	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr6:41738548G>A	ENST00000373018.3	-	7	1539	c.1288C>T	c.(1288-1290)Cct>Tct	p.P430S	FRS3_ENST00000259748.2_Missense_Mutation_p.P430S	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	430					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGCCCCTTAGGGCGGTCTCCA	0.637000													15	38					0	0	1	0	0
ZPBP	11055	broad.mit.edu	37	7	50057837	50057837	+	Splice_Site	SNP	T	T	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr7:50057837T>A	ENST00000046087.2	-	6	851	c.783_splice	c.e6+1	p.K261_splice	ZPBP_ENST00000491129.1_Intron|ZPBP_ENST00000419417.1_Splice_Site_p.K260_splice	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	261					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					ATAACATACCTTAAAAAGTCT	0.333000													6	44					0	0	1	0	0
SATB1	6304	broad.mit.edu	37	3	18436366	18436366	+	Missense_Mutation	SNP	T	T	C			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr3:18436366T>C	ENST00000338745.6	-	7	2528	c.794A>G	c.(793-795)aAt>aGt	p.N265S	SATB1_ENST00000454909.2_Missense_Mutation_p.N265S|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_Missense_Mutation_p.N265S	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	265	Nuclear matrix targeting sequence (NMTS).				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						ATTGACATGATTGGCGCCTTG	0.502000													12	31					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906344	164906344	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr3:164906344G>T	ENST00000475390.1	-	2	2718	c.2275C>A	c.(2275-2277)Cgt>Agt	p.R759S	SLITRK3_ENST00000241274.3_Missense_Mutation_p.R759S			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	759						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TCCTCCTCACGAGGCTTGTAG	0.577000										HNSCC(40;0.11)			34	82					1.36615e-20	2.28813e-20	1	1	0
DACH1	1602	broad.mit.edu	37	13	72147053	72147053	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr13:72147053G>T	ENST00000305425.4	-	4	1646	c.1224C>A	c.(1222-1224)aaC>aaA	p.N408K	DACH1_ENST00000354591.4_Intron|DACH1_ENST00000313174.7_Intron|DACH1_ENST00000359684.2_Missense_Mutation_p.N460K	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	458					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TGCTGAGGTGGTTCATCTGGC	0.443000													11	44					0.0692343	0.0715491	1	1	0
PTPRA	5786	broad.mit.edu	37	20	3003399	3003399	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr20:3003399G>T	ENST00000216877.6	+	15	1766	c.1366G>T	c.(1366-1368)Gaa>Taa	p.E456*	PTPRA_ENST00000356147.3_Nonsense_Mutation_p.E456*|PTPRA_ENST00000380393.3_Nonsense_Mutation_p.E465*|PTPRA_ENST00000358719.4_Nonsense_Mutation_p.E321*|PTPRA_ENST00000425918.2_Nonsense_Mutation_p.E476*|PTPRA_ENST00000318266.5_Nonsense_Mutation_p.E456*|PTPRA_ENST00000399903.2_Nonsense_Mutation_p.E465*	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	465	Tyrosine-protein phosphatase 1.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GATGCATACAGAACGGAAGGT	0.562000													13	35					1.61879e-10	2.35209e-10	1	1	0
QRSL1	55278	broad.mit.edu	37	6	107100091	107100091	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr6:107100091G>T	ENST00000369046.4	+	6	669	c.565G>T	c.(565-567)Gga>Tga	p.G189*	QRSL1_ENST00000369044.1_Nonsense_Mutation_p.G189*	NM_018292.4	NP_060762.3	Q9H0R6	QRSL1_HUMAN	glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1	189					translation		ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor			endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		CAGGGCTTTAGGATCAGATAC	0.373000													6	35					0.00116845	0.0012774	1	1	0
IL22RA1	58985	broad.mit.edu	37	1	24465126	24465126	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr1:24465126C>T	ENST00000270800.1	-	2	160	c.122G>A	c.(121-123)tGg>tAg	p.W41*		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	41	Fibronectin type-III 1.					integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		CCCGCTGTCCCACGTCAGGAT	0.587000													9	29					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186689171	186689171	+	Missense_Mutation	SNP	G	G	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr2:186689171G>A	ENST00000343098.5	+	20	20704	c.20704G>A	c.(20704-20706)Gat>Aat	p.D6902N	FSIP2_ENST00000424728.1_Missense_Mutation_p.D6813N	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TGAGGCTGAAGATTGTCACTC	0.303000													8	32					0	0	1	0	0
LUZP1	7798	broad.mit.edu	37	1	23418465	23418465	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr1:23418465C>A	ENST00000302291.4	-	4	3091	c.2290G>T	c.(2290-2292)Gat>Tat	p.D764Y	LUZP1_ENST00000418342.1_Missense_Mutation_p.D764Y|LUZP1_ENST00000374623.3_Missense_Mutation_p.D764Y|LUZP1_ENST00000314174.5_Missense_Mutation_p.D764Y			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	764						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TTTTTCACATCCTTATCAACA	0.473000													13	69					2.27111e-07	2.99294e-07	1	1	0
GFAP	2670	broad.mit.edu	37	17	42992694	42992694	+	Missense_Mutation	SNP	A	A	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr17:42992694A>T	ENST00000253408.5	-	1	226	c.161T>A	c.(160-162)cTg>cAg	p.L54Q	GFAP_ENST00000586793.1_Missense_Mutation_p.L54Q|GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000435360.2_Missense_Mutation_p.L54Q	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	54	Head.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				TGCCCCAGCCAGGGAGAAATC	0.652000													14	66					0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70355157	70355157	+	Splice_Site	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr4:70355157C>A	ENST00000305107.6	-	3	1048	c.1002_splice	c.e3+1	p.K334_splice	UGT2B4_ENST00000381096.3_Splice_Site_p.K198_splice|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Splice_Site_p.K334_splice	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	334					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						TTTATCTTACCTTTTGTGGGA	0.383000													19	91					1.01871e-10	1.49294e-10	1	1	0
LAMB4	22798	broad.mit.edu	37	7	107688374	107688374	+	Missense_Mutation	SNP	C	C	A			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr7:107688374C>A	ENST00000388781.3	-	28	4388	c.4305G>T	c.(4303-4305)caG>caT	p.Q1435H	LAMB4_ENST00000205386.4_Missense_Mutation_p.Q1435H|LAMB4_ENST00000388780.3_Missense_Mutation_p.Q1435H	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1435	Domain I.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						ACCCACGAACCTGTTTGTCCA	0.408000													16	53					1.15088e-07	1.54054e-07	1	1	0
PDGFRA	5156	broad.mit.edu	37	4	55133531	55133531	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr4:55133531G>T	ENST00000257290.5	+	6	1166	c.835G>T	c.(835-837)Gag>Tag	p.E279*	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	279	Ig-like C2-type 3.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GACGGTCCCCGAGGCCACGGT	0.483000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			15	31					2.32078e-09	3.22068e-09	1	1	0
CAMK2A	815	broad.mit.edu	37	5	149602583	149602583	+	Missense_Mutation	SNP	G	G	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr5:149602583G>T	ENST00000348628.6	-	17	2067	c.1402C>A	c.(1402-1404)Cac>Aac	p.H468N	CAMK2A_ENST00000398376.3_Missense_Mutation_p.H479N|CAMK2A_ENST00000351010.6_5'UTR	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	468					interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGATCTGTGGAAGTGGACG	0.637000													10	83					2.27111e-07	2.99294e-07	1	1	0
BCHE	590	broad.mit.edu	37	3	165547681	165547681	+	Missense_Mutation	SNP	C	C	G			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr3:165547681C>G	ENST00000264381.3	-	2	1307	c.1141G>C	c.(1141-1143)Ggt>Cgt	p.G381R	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	381					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	ATTTTTAAACCTTCCTGAAAT	0.373000													12	13					0	0	1	0	0
KCTD16	57528	broad.mit.edu	37	5	143853639	143853640	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr5:143853639_143853640delCC	ENST00000507359.2	+	3	2340_2341	c.1249_1250delCC	c.(1249-1251)tfs	p.P417fs	KCTD16_ENST00000512467.1_Frame_Shift_Del_p.P417fs	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	417						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.P417S(1)		large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			GAGAAAACATCCTTGGCAATCT	0.381													21	38	---	---	---	---					
WWC1	23286	broad.mit.edu	37	5	167851021	167851021	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr5:167851021delG	ENST00000265293.4	+	11	2260	c.1758delG	c.(1756-1758)cafs	p.Q586fs	WWC1_ENST00000521089.1_Frame_Shift_Del_p.Q586fs	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	586					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		ACAGCGCCCAGGAAAGATACC	0.587													8	53	---	---	---	---					
LAMA4	3910	broad.mit.edu	37	6	112462119	112462119	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr6:112462119delC	ENST00000230538.7	-	22	3216	c.2819delG	c.(2818-2820)gafs	p.G940fs	LAMA4_ENST00000424408.2_Frame_Shift_Del_p.G933fs|LAMA4_ENST00000522006.1_Frame_Shift_Del_p.G933fs|LAMA4_ENST00000389463.4_Frame_Shift_Del_p.G933fs	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	940	Laminin G-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	p.G933V(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCCATGTTTTCCCACCCTATT	0.348													8	39	---	---	---	---					
RSPH10B2	728194	broad.mit.edu	37	7	6820456	6820457	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr7:6820456_6820457delCT	ENST00000403107.1	+	13	1933_1934	c.1546_1547delCT	c.(1546-1548)cfs	p.L516fs	RSPH10B2_ENST00000404077.1_Frame_Shift_Del_p.L516fs|RSPH10B2_ENST00000463354.2_Intron|RSPH10B2_ENST00000359718.3_Intron|RSPH10B2_ENST00000433859.2_Frame_Shift_Del_p.L516fs|RSPH10B2_ENST00000297186.3_Frame_Shift_Del_p.L516fs					radial spoke head 10 homolog B2 (Chlamydomonas)											breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2)	15						AAGCCCATCCCTCTTCTTGTGT	0.411													15	154	---	---	---	---					
DBNL	28988	broad.mit.edu	37	7	44097413	44097414	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr7:44097413_44097414delTG	ENST00000494774.1	+	6	528_529	c.507_508delTG	c.(505-510)tcagfs	p.SE169fs	DBNL_ENST00000490734.2_Frame_Shift_Del_p.SE74fs|DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000456905.1_Frame_Shift_Del_p.SE120fs|DBNL_ENST00000440166.1_Frame_Shift_Del_p.SE66fs|DBNL_ENST00000452943.1_Frame_Shift_Del_p.SE144fs|DBNL_ENST00000448521.1_Frame_Shift_Del_p.SE169fs|DBNL_ENST00000468694.1_Frame_Shift_Del_p.SE169fs	NM_014063.6	NP_054782.2	Q9UJU6	DBNL_HUMAN	drebrin-like	169					activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						ATGCCGTGTCTGAGATTAAAAG	0.579													8	74	---	---	---	---					
FAM66B	100128890	broad.mit.edu	37	8	7191583	7191584	+	RNA	DEL	AC	AC	-			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr8:7191583_7191584delAC	ENST00000606573.1	-	0	703																											acgcacgcaaacacacacacac	0.510													5	10	---	---	---	---					
PAPSS2	9060	broad.mit.edu	37	10	89504897	89504898	+	Frame_Shift_Ins	INS	-	-	C			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr10:89504897_89504898insC	ENST00000361175.4	+	11	1984_1985	c.1615_1616insC	c.(1615-1617)cccfs	p.P539fs	PAPSS2_ENST00000456849.1_Frame_Shift_Ins_p.P544fs|PAPSS2_ENST00000427144.2_Frame_Shift_Ins_p.P543fs	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	539					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		CTTGAGCATGGCCCCTGGCCTC	0.510													19	13	---	---	---	---					
MUC5AC	4586	broad.mit.edu	37	11	1157905	1157906	+	Frame_Shift_Ins	INS	-	-	C			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr11:1157905_1157906insC	ENST00000356191.2	+	13	963_964	c.963_964insC	c.(961-966)ttcccafs	p.FP321fs						mucin 5AC, oligomeric mucus/gel-forming											NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		CAGGGGGGTTGCCCCAGGACTG	0.673													8	74	---	---	---	---					
KIF21A	55605	broad.mit.edu	37	12	39726892	39726892	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr12:39726892delC	ENST00000395670.3	-	19	2924	c.2505delG	c.(2503-2505)cgfs	p.R835fs	KIF21A_ENST00000541463.2_Frame_Shift_Del_p.R799fs|KIF21A_ENST00000361418.5_Frame_Shift_Del_p.R835fs|KIF21A_ENST00000361961.3_Frame_Shift_Del_p.R822fs|KIF21A_ENST00000544797.2_Frame_Shift_Del_p.R822fs			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	835					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)				GTCTTACTTGCCGACGAAGAG	0.448													39	47	---	---	---	---					
LOC101927580	101927580	broad.mit.edu	37	16	60058500	60058501	+	RNA	INS	-	-	T			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr16:60058500_60058501insT	ENST00000568279.1	+	0	173																											TGTGATCTCTCTTTTTTTTTCT	0.386													4	7	---	---	---	---					
LRRC37BP1	147172	broad.mit.edu	37	17	28960996	28960997	+	RNA	INS	-	-	TC			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr17:28960996_28960997insTC	ENST00000417404.1	+	0	1269				LRRC37BP1_ENST00000412831.1_RNA|SMURF2P1_ENST00000578265.1_RNA																							tttttctttttttttttttttt	0.302													8	16	---	---	---	---					
MAP3K10	4294	broad.mit.edu	37	19	40710420	40710421	+	Frame_Shift_Ins	INS	-	-	C			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr19:40710420_40710421insC	ENST00000253055.3	+	3	1180_1181	c.892_893insC	c.(892-894)gggfs	p.G298fs	MAP3K10_ENST00000593906.1_3'UTR	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	298	Protein kinase.				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GGAGCTGCTGACGGGGGAGGTC	0.658													31	59	---	---	---	---					
SIGLEC9	27180	broad.mit.edu	37	19	51628573	51628574	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr19:51628573_51628574delGG	ENST00000440804.3	+	1	409_410	c.342_343delGG	c.(340-345)gcggfs	p.AG114fs	SIGLEC9_ENST00000250360.3_Frame_Shift_Del_p.AG114fs	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	114	Ig-like V-type.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GAAGTGATGCGGGGAGATACTT	0.500													12	67	---	---	---	---					
RRP7BP	91695	broad.mit.edu	37	22	42971734	42971735	+	RNA	INS	-	-	G	rs142480316		TCGA-L9-A443-01A-12D-A24D-08	TCGA-L9-A443-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b044eb7e-1e23-4cfb-8e1f-3c30d9f82b1d	9f48b818-bdbc-4dcf-bde0-c3d93555a32e	g.chr22:42971734_42971735insG	ENST00000357802.2	-	0	784																											CATCTGCCCCTGGGGGGTGATG	0.644													6	1	---	---	---	---