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
TNFRSF4	7293	broad.mit.edu	37	1	1149465	1149465	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr1:1149465C>T	uc001adf.3	-	0					TNFRSF4_uc001ade.3_Missense_Mutation_p.A15T			P43489	TNR4_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 4 (TNFRSF4), mRNA.						immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGGAGCAGAGCCGCACACGGC	0.692												
TAS1R1	80835	broad.mit.edu	37	1	6638981	6638982	+	Frame_Shift_Ins	INS	-	-	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr1:6638981_6638982insT	uc001ant.3	+	5	1959_1960	c.1863_1864insT	c.(1861-1866)ggcttcfs	p.G621fs	TAS1R1_uc001anu.3_Frame_Shift_Ins_p.G367fs|TAS1R1_uc021ofp.1_3'UTR|ZBTB48_uc009vmc.2_5'Flank|ZBTB48_uc001anx.3_5'Flank|ZBTB48_uc009vmd.2_5'Flank	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	Homo sapiens taste receptor, type 1, member 1 (TAS1R1), transcript variant 2, mRNA.	621					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GCCTCTATGGCTTCTTTGGGGA	0.599												
SLC25A34	284723	broad.mit.edu	37	1	16065774	16065775	+	Frame_Shift_Ins	INS	-	-	C			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr1:16065774_16065775insC	uc001axb.1	+	4	960_961	c.788_789insC	c.(787-789)ggcfs	p.G263fs		NM_207348	NP_997231	Q6PIV7	S2534_HUMAN	Homo sapiens solute carrier family 25, member 34 (SLC25A34), mRNA.	263					transport	integral to membrane|mitochondrial inner membrane				NS(1)|breast(1)|endometrium(3)|large_intestine(1)|lung(2)|skin(1)	9		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CGGCAGGAGGGCCCCCTGGCAC	0.649												
C1orf201	90529	broad.mit.edu	37	1	24710467	24710467	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr1:24710467G>T	uc001bjc.3	-	3	383	c.216C>A	c.(214-216)taC>taA	p.Y72*	C1orf201_uc001bjb.3_5'UTR|C1orf201_uc001bja.3_Nonsense_Mutation_p.Y25*|C1orf201_uc001bjd.3_Nonsense_Mutation_p.Y72*|C1orf201_uc001bjf.3_5'UTR	NM_001199013	NP_001185942	Q5TH74	CA201_HUMAN	Homo sapiens chromosome 1 open reading frame 201 (C1orf201), transcript variant 1, mRNA.	72										breast(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	15		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.0191)|all_lung(284;0.0251)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.056)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.48e-25)|Colorectal(126;7.29e-08)|COAD - Colon adenocarcinoma(152;3.85e-06)|GBM - Glioblastoma multiforme(114;0.000399)|BRCA - Breast invasive adenocarcinoma(304;0.00107)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00393)|READ - Rectum adenocarcinoma(331;0.0672)|Lung(427;0.145)		GAATAACATTGTAGAACCCAG	0.438												
MACF1	23499	broad.mit.edu	37	1	39799059	39799060	+	Frame_Shift_Ins	INS	-	-	G			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr1:39799059_39799060insG	uc021olw.1	+	0	2119_2120	c.2119_2120insG	c.(2119-2121)aggfs	p.R707fs	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	2272					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGATAGTGGCAGGGAAATTTTT	0.391												
LEPRE1	64175	broad.mit.edu	37	1	43213879	43213879	+	Silent	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr1:43213879G>A	uc001chx.4	-	11	1943	c.1830C>T	c.(1828-1830)cgC>cgT	p.R610R	LEPRE1_uc001chw.2_Silent_p.R610R|LEPRE1_uc001chv.2_Silent_p.R610R	NM_001243246	NP_001230175	Q32P28	P3H1_HUMAN	Homo sapiens leucine proline-enriched proteoglycan (leprecan) 1 (LEPRE1), transcript variant 3, mRNA.	610	Fe2OG dioxygenase.				negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	ACCTGTAGTCGCGGAAGGTGT	0.602												
TOE1	114034	broad.mit.edu	37	1	45808763	45808764	+	Frame_Shift_Ins	INS	-	-	G			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr1:45808763_45808764insG	uc009vxq.3	+	7	1505_1506	c.922_923insG	c.(922-924)tggfs	p.W308fs	MUTYH_uc001cnj.3_5'Flank|MUTYH_uc001cni.3_5'Flank|MUTYH_uc001cnh.3_5'Flank|MUTYH_uc001cnl.3_5'Flank|MUTYH_uc009vxp.3_5'Flank|MUTYH_uc001cnn.3_5'Flank|MUTYH_uc001cnm.3_5'Flank|MUTYH_uc001cno.3_5'Flank|MUTYH_uc010oll.2_5'Flank|TOE1_uc010olm.2_Frame_Shift_Ins_p.W228fs|TOE1_uc001cnr.4_Non-coding_Transcript	NM_025077	NP_079353	Q96GM8	TOE1_HUMAN	Homo sapiens target of EGR1, member 1 (nuclear) (TOE1), mRNA.	308						nuclear speck|nucleolus	nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					GGCTTATGGCTGGTGCCCCCTG	0.569												
GIPC2	54810	broad.mit.edu	37	1	78560730	78560730	+	Missense_Mutation	SNP	G	G	A	rs143579527		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr1:78560730G>A	uc001dik.3	+	2	711	c.521G>A	c.(520-522)cGt>cAt	p.R174H	5S_rRNA_uc021oov.1_5'Flank	NM_017655	NP_060125	Q8TF65	GIPC2_HUMAN	Homo sapiens GIPC PDZ domain containing family, member 2 (GIPC2), mRNA.	174	PDZ.					cytoplasm				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						GTTGGGTGGCGTCACTATGAT	0.348												
SYCP1	6847	broad.mit.edu	37	1	115537600	115537601	+	Frame_Shift_Ins	INS	-	-	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr1:115537600_115537601insA	uc001efr.3	+	31	3100_3101	c.2891_2892insA	c.(2890-2892)agafs	p.R964fs	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Frame_Shift_Ins_p.R964fs|SYCP1_uc009wgw.3_Frame_Shift_Ins_p.R939fs	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	964	Arg/Lys-rich (basic).				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAAATGGATAGAAAAAAAAAAC	0.356												
POLR3C	10623	broad.mit.edu	37	1	145594170	145594170	+	Silent	SNP	A	A	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr1:145594170A>T	uc001eog.3	-	13	1474	c.1431T>A	c.(1429-1431)tcT>tcA	p.S477S	POLR3C_uc001eoh.3_Silent_p.S464S|POLR3C_uc009wix.3_Intron	NM_006468	NP_006459	Q9BUI4	RPC3_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide C (62kD) (POLR3C), mRNA.	464					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			CTACCCTCTGAGATTTTTCTA	0.478												
VPS72	6944	broad.mit.edu	37	1	151162515	151162515	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr1:151162515T>C	uc001exe.1	-	0	126	c.83A>G	c.(82-84)gAg>gGg	p.E28G	VPS72_uc001exf.1_Missense_Mutation_p.E28G	NM_005997	NP_005988	Q15906	VPS72_HUMAN	Homo sapiens vacuolar protein sorting 72 homolog (S. cerevisiae) (VPS72), mRNA.	28	Asp/Glu-rich (acidic).				chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTGGTAGAACTCATCTTCCTC	0.612												
LRRC52	440699	broad.mit.edu	37	1	165532851	165532851	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr1:165532851C>A	uc001gde.2	+	1	788	c.732C>A	c.(730-732)gaC>gaA	p.D244E	LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.3_Intron	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN	Homo sapiens leucine rich repeat containing 52 (LRRC52), mRNA.	244						integral to membrane				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					ACCACAAAGACTACATCTTCC	0.602												
SELE	6401	broad.mit.edu	37	1	169698757	169698757	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr1:169698757T>C	uc001ggm.4	-	5	930	c.773A>G	c.(772-774)aAc>aGc	p.N258S	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	258	Sushi 2.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					GCTTCCAGGGTTTTGGAAACA	0.438												
KIAA1217	56243	broad.mit.edu	37	10	24790356	24790356	+	Missense_Mutation	SNP	C	C	T	rs141937477		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr10:24790356C>T	uc001iru.4	+	8	2286	c.1883C>T	c.(1882-1884)aCg>aTg	p.T628M	KIAA1217_uc001irs.3_Missense_Mutation_p.T548M|KIAA1217_uc001irt.4_Missense_Mutation_p.T593M|KIAA1217_uc010qcy.2_Missense_Mutation_p.T593M|KIAA1217_uc010qcz.2_Missense_Mutation_p.T593M|KIAA1217_uc001irv.1_Missense_Mutation_p.T443M|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Missense_Mutation_p.T311M|KIAA1217_uc001irz.3_Missense_Mutation_p.T311M|KIAA1217_uc001irx.3_Missense_Mutation_p.T311M|KIAA1217_uc001iry.3_Missense_Mutation_p.T311M	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	628					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CTGGAGTCCACGGTGCCTCCC	0.582												
ARMC4	55130	broad.mit.edu	37	10	28229528	28229528	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr10:28229528A>C	uc009xky.3	-	12	2048	c.1950T>G	c.(1948-1950)atT>atG	p.I650M	ARMC4_uc010qds.2_Missense_Mutation_p.I175M|ARMC4_uc010qdt.2_Missense_Mutation_p.I342M|ARMC4_uc001itz.3_Missense_Mutation_p.I650M|ARMC4_uc010qdu.1_Missense_Mutation_p.I342M	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	650							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CCACCACTGGAATTAGCATGT	0.473												
OR13A1	79290	broad.mit.edu	37	10	45799324	45799324	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr10:45799324G>A	uc001jcc.1	-	3	856	c.547C>T	c.(547-549)Cgc>Tgc	p.R183C	OR13A1_uc001jcd.1_Missense_Mutation_p.R179C|OR13A1_uc021ppq.1_Missense_Mutation_p.R183C	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily A, member 1 (OR13A1), mRNA.	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						AAATCCAAGCGCAGCATCAGC	0.587												
DNTT	1791	broad.mit.edu	37	10	98079146	98079146	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr10:98079146C>T	uc001kmf.3	+	3	677	c.507_splice	c.e3+1	p.T169_splice	DNTT_uc001kmg.3_Splice_Site_p.T169_splice	NM_004088	NP_004079	P04053	TDT_HUMAN	Homo sapiens deoxynucleotidyltransferase, terminal (DNTT), transcript variant 1, mRNA.	169	Mediates interaction with DNTTIP2.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		CAGATATTCACGGTAACGGGA	0.448												
PAX2	5076	broad.mit.edu	37	10	102510548	102510548	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr10:102510548C>T	uc001krk.4	+	2	860	c.310C>T	c.(310-312)Cga>Tga	p.R104*	PAX2_uc001krm.4_Nonsense_Mutation_p.R104*|PAX2_uc001krn.4_Nonsense_Mutation_p.R104*|PAX2_uc001kro.4_Nonsense_Mutation_p.R104*|PAX2_uc010qps.2_Nonsense_Mutation_p.R103*|PAX2_uc001krl.4_Nonsense_Mutation_p.R104*|PAX2_uc001krp.1_Nonsense_Mutation_p.R108*	NM_003990	NP_003981	Q02962	PAX2_HUMAN	Homo sapiens paired box 2 (PAX2), transcript variant e, mRNA.	104	Paired.				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		TGAATACAAACGACAGAACCC	0.572												
OR4C6	219432	broad.mit.edu	37	11	55433358	55433358	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr11:55433358G>T	uc010rik.2	+	0	716	c.716G>T	c.(715-717)aGc>aTc	p.S239I		NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA.	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TCTACCTGCAGCTCCCACCTC	0.502												
NUDT22	84304	broad.mit.edu	37	11	63997583	63997583	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr11:63997583A>C	uc001nyr.1	-	0	1178	c.746T>G	c.(745-747)gTt>gGt	p.V249G	DNAJC4_uc001nys.3_5'Flank|DNAJC4_uc001nyt.3_5'Flank|DNAJC4_uc001nyu.3_5'Flank					Homo sapiens cDNA FLJ34477 fis, clone HLUNG2003833.																		AAAAAAAAAAACCCGCCCAGC	0.532												
CD248	57124	broad.mit.edu	37	11	66084227	66084228	+	Frame_Shift_Ins	INS	-	-	C			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr11:66084227_66084228insC	uc001ohm.1	-	0	288_289	c.271_272insG	c.(271-273)gccfs	p.A91fs		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	Homo sapiens CD248 molecule, endosialin (CD248), mRNA.	91	C-type lectin.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	GCATTGCCGGGCCTGCCGCTGC	0.723												
CLMP	79827	broad.mit.edu	37	11	122944226	122944226	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr11:122944226G>T	uc001pyt.3	-	6	1437	c.1078C>A	c.(1078-1080)Ccc>Acc	p.P360T		NM_024769	NP_079045	Q9H6B4	CLMP_HUMAN	Homo sapiens CXADR-like membrane protein (CLMP), mRNA.	360						integral to membrane|tight junction		p.P360P(1)		endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						ATCATGCTGGGTGTGGTTTCT	0.537												
CD4	920	broad.mit.edu	37	12	6923329	6923329	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr12:6923329G>A	uc001qqv.2	+	3	494	c.236G>A	c.(235-237)cGc>cAc	p.R79H	CD4_uc009zfa.2_Non-coding_Transcript|CD4_uc009zez.2_Missense_Mutation_p.R24H|CD4_uc009zfb.2_Non-coding_Transcript|CD4_uc010sfj.2_5'UTR|CD4_uc009zfc.2_5'UTR|CD4_uc010sfl.2_5'UTR|CD4_uc010sfk.2_5'UTR|CD4_uc010sfm.1_5'UTR	NM_000616	NP_000607	P01730	CD4_HUMAN	Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA.	79	Ig-like V-type.				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				CTGAATGATCGCGCTGACTCA	0.522												
PHC1	1911	broad.mit.edu	37	12	9087006	9087006	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr12:9087006G>A	uc001qvd.3	+	9	2341	c.2185G>A	c.(2185-2187)Gtg>Atg	p.V729M	PHC1_uc001qve.3_Missense_Mutation_p.V729M	NM_004426	NP_004417	P78364	PHC1_HUMAN	Homo sapiens polyhomeotic homolog 1 (Drosophila) (PHC1), mRNA.	729					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						ACAGGCCATCGTGAAGCCCCA	0.542												
BICD1	636	broad.mit.edu	37	12	32491868	32491868	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr12:32491868G>C	uc001rku.3	+	7	2800	c.2719G>C	c.(2719-2721)Ggg>Cgg	p.G907R	BICD1_uc001rkv.3_Intron|BICD1_uc010skd.2_Non-coding_Transcript	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	Homo sapiens bicaudal D homolog 1 (Drosophila) (BICD1), transcript variant 1, mRNA.	907					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			ATTCATCCAAGGGCACCGGCT	0.463												
BCDIN3D	144233	broad.mit.edu	37	12	50232500	50232500	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr12:50232500C>T	uc001rvh.3	-	1	575	c.533G>A	c.(532-534)gGc>gAc	p.G178D	LOC100286844_uc010smm.2_Intron|LOC100286844_uc001rvg.3_Non-coding_Transcript|LOC100286844_uc010smn.2_Non-coding_Transcript	NM_181708	NP_859059	Q7Z5W3	BN3D2_HUMAN	Homo sapiens BCDIN3 domain containing (BCDIN3D), mRNA.	178	Bin3-type SAM.						methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)	9						CTCCCATAGGCCATGGTCTCC	0.512											OREG0021805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ATF7	11016	broad.mit.edu	37	12	53928392	53928392	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr12:53928392G>A	uc001sdy.3	-	4	508	c.487C>T	c.(487-489)Cgt>Tgt	p.R163C	ATF7_uc010sok.1_Non-coding_Transcript|ATF7_uc001sdz.3_Missense_Mutation_p.R152C|ATF7_uc010sol.2_Missense_Mutation_p.R131C	NM_001130059	NP_001123531	P17544	ATF7_HUMAN	Homo sapiens activating transcription factor 7 (ATF7), transcript variant 1, mRNA.	163	Transactivation domain.				interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9						GAGCCAGGACGTACAATGGTG	0.512												
SDR9C7	121214	broad.mit.edu	37	12	57328041	57328041	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr12:57328041G>A	uc010sqw.2	-	0	149	c.5C>T	c.(4-6)gCg>gTg	p.A2V		NM_148897	NP_683695	Q8NEX9	DR9C7_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 9C, member 7 (SDR9C7), mRNA.	2						cytoplasm	binding|oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						TGTGAGGGCCGCCATAGGGCA	0.542												
AVIL	10677	broad.mit.edu	37	12	58207190	58207190	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr12:58207190C>T	uc001sqj.2	-	2	187	c.158G>A	c.(157-159)aGt>aAt	p.S53N	AVIL_uc009zqe.2_Missense_Mutation_p.S46N|AVIL_uc001sql.4_Missense_Mutation_p.S30N	NM_006576	NP_006567	O75366	AVIL_HUMAN	Homo sapiens advillin (AVIL), mRNA.	53	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GGATAGGAGACTGGCCACTCT	0.582												
CPSF6	11052	broad.mit.edu	37	12	69653833	69653833	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr12:69653833G>T	uc001sut.4	+	7	1435	c.1325G>T	c.(1324-1326)gGg>gTg	p.G442V	CPSF6_uc001suu.4_Missense_Mutation_p.G479V|CPSF6_uc010stk.2_Missense_Mutation_p.G73V	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 6, 68kDa (CPSF6), mRNA.	442					mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			GGTGATTATGGGAGTGCTATT	0.353												
NOS1	4842	broad.mit.edu	37	12	117718572	117718572	+	Silent	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr12:117718572G>A	uc001twn.2	-	7	2193	c.1482C>T	c.(1480-1482)gaC>gaT	p.D494D	NOS1_uc021ren.1_Silent_p.D158D|NOS1_uc021reo.1_Silent_p.D158D|NOS1_uc001twm.2_Silent_p.D494D	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	494					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.D494D(4)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GGGTGGAGCCGTCAGGCTGCT	0.617												
TMEM132B	114795	broad.mit.edu	37	12	126004117	126004117	+	Silent	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr12:126004117C>T	uc001uhe.1	+	3	1232	c.1224C>T	c.(1222-1224)gtC>gtT	p.V408V	TMEM132B_uc021rgl.1_Silent_p.V298V	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	408						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGCTGGTCGTCTCCGAGATCT	0.532												
GLT1D1	144423	broad.mit.edu	37	12	129360558	129360558	+	Silent	SNP	C	C	T	rs144231014		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr12:129360558C>T	uc010tbh.1	+	1	144	c.135C>T	c.(133-135)tgC>tgT	p.C45C	GLT1D1_uc001uhx.1_Silent_p.C56C|GLT1D1_uc001uhy.1_Non-coding_Transcript	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN	Homo sapiens glycosyltransferase 1 domain containing 1 (GLT1D1), mRNA.	56					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		CTGAGAACTGCGAGGCTGCCC	0.483												
ZMYM5	9205	broad.mit.edu	37	13	20409775	20409775	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr13:20409775A>G	uc010tcn.1	-	6	1358	c.1093T>C	c.(1093-1095)Tgc>Cgc	p.C365R	ZMYM5_uc001umm.1_Missense_Mutation_p.C189R	NM_001142684	NP_001136156	Q9UJ78	ZMYM5_HUMAN	Homo sapiens zinc finger, MYM-type 5 (ZMYM5), transcript variant 3, mRNA.	365						nucleus	zinc ion binding			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		TTATTAAAGCAATGGTTACTG	0.363												
NBEA	26960	broad.mit.edu	37	13	35730325	35730325	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr13:35730325A>C	uc021rid.1	+	19	3167	c.2633A>C	c.(2632-2634)aAc>aCc	p.N878T	NBEA_uc021ric.1_Missense_Mutation_p.N878T	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	878						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CTTTTCAGTAACAGCCGTGAA	0.313												
SCEL	8796	broad.mit.edu	37	13	78176839	78176839	+	Missense_Mutation	SNP	C	C	T	rs144213801		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr13:78176839C>T	uc001vki.3	+	16	1198	c.1028C>T	c.(1027-1029)aCg>aTg	p.T343M	SCEL_uc010thx.2_Missense_Mutation_p.T321M|SCEL_uc001vkj.3_Missense_Mutation_p.T323M	NM_144777	NP_659001	O95171	SCEL_HUMAN	Homo sapiens sciellin (SCEL), transcript variant 1, mRNA.	343	16 X approximate tandem repeats.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		ATGAATAAAACGAGCAGAAGG	0.348												
HECTD1	25831	broad.mit.edu	37	14	31582555	31582555	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr14:31582555delC	uc001wrc.1	-	32	6481	c.5992delG	c.(5992-5994)gaafs	p.E1998fs	HECTD1_uc001wra.1_Frame_Shift_Del_p.E124fs|HECTD1_uc001wrb.1_Frame_Shift_Del_p.E124fs|HECTD1_uc001wrd.1_Frame_Shift_Del_p.E1466fs	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	Homo sapiens HECT domain containing 1 (HECTD1), mRNA.	1998					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AGGACATCTTCTACTCCACAA	0.403												
RPL10L	140801	broad.mit.edu	37	14	47120929	47120929	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr14:47120929C>T	uc001wwg.3	-	0	100	c.11G>A	c.(10-12)cGt>cAt	p.R4H		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	Homo sapiens ribosomal protein L10-like (RPL10L), mRNA.	4					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome	p.R4S(2)|p.R3R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						GCGAGCTGGACGGCGCCCCAT	0.557												
ACYP1	97	broad.mit.edu	37	14	75520272	75520272	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr14:75520272C>T	uc001xrg.3	-	2	263	c.175G>A	c.(175-177)Gtg>Atg	p.V59M	MLH3_uc001xrd.1_5'Flank|MLH3_uc001xre.1_5'Flank|ACYP1_uc001xrf.3_3'UTR	NM_001107	NP_001098	P07311	ACYP1_HUMAN	Homo sapiens acylphosphatase 1, erythrocyte (common) type (ACYP1), transcript variant 1, mRNA.	59	Acylphosphatase-like.				phosphate metabolic process		acylphosphatase activity			large_intestine(2)	2				BRCA - Breast invasive adenocarcinoma(234;0.00646)		ATATGACGCACCTTGGAGATG	0.478												
AHNAK2	113146	broad.mit.edu	37	14	105412495	105412495	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr14:105412495G>A	uc010axc.1	-	6	9413	c.9293C>T	c.(9292-9294)aCg>aTg	p.T3098M	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.T2998M	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	3098						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTCGGGGGCCGTCACGTCCGT	0.627												
MAPKBP1	23005	broad.mit.edu	37	15	42111153	42111153	+	Silent	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr15:42111153C>T	uc001zok.4	+	20	2593	c.2307C>T	c.(2305-2307)aaC>aaT	p.N769N	MAPKBP1_uc010bci.3_Silent_p.N763N|MAPKBP1_uc010udb.2_Silent_p.N602N|MAPKBP1_uc001zoj.4_Silent_p.N763N|MAPKBP1_uc010bcj.3_Silent_p.N270N|MAPKBP1_uc010bck.3_5'UTR|MAPKBP1_uc010bcl.3_Silent_p.N270N	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	769								p.N763N(1)		breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CTGGACCCAACCGGTGAGAAC	0.607												
ZSCAN29	146050	broad.mit.edu	37	15	43653907	43653907	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr15:43653907T>G	uc001zrk.1	-	4	2070	c.1923A>C	c.(1921-1923)caA>caC	p.Q641H	ZSCAN29_uc001zrj.1_Missense_Mutation_p.Q521H|ZSCAN29_uc010bdg.1_Missense_Mutation_p.Q251H|ZSCAN29_uc010bdf.1_3'UTR|ZSCAN29_uc001zrl.1_Non-coding_Transcript	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN	Homo sapiens zinc finger and SCAN domain containing 29 (ZSCAN29), mRNA.	641					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		AAGGTCTCTGTTGACTTAGGA	0.473												
ADPGK	83440	broad.mit.edu	37	15	73044826	73044827	+	Frame_Shift_Ins	INS	-	-	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr15:73044826_73044827insT	uc002avg.4	-	6	1443_1444	c.1349_1350insA	c.(1348-1350)aagfs	p.K450fs	ADPGK_uc002ave.4_Frame_Shift_Ins_p.K175fs|ADPGK_uc010ukw.2_Frame_Shift_Ins_p.K392fs|ADPGK_uc002avf.4_Frame_Shift_Ins_p.K449fs|ADPGK_uc002avi.4_Frame_Shift_Ins_p.K327fs|ADPGK_uc002avh.4_Frame_Shift_Ins_p.K211fs	NM_031284	NP_112574	Q9BRR6	ADPGK_HUMAN	Homo sapiens ADP-dependent glucokinase (ADPGK), transcript variant 1, mRNA.	450	ADPK.				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						CTACTACTGGCTTGTTTGGGTT	0.490												
SSTR5	6755	broad.mit.edu	37	16	1129417	1129417	+	Silent	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr16:1129417C>T	uc021taf.1	+	1	620	c.549C>T	c.(547-549)ggC>ggT	p.G183G	LOC146336_uc002cko.3_5'Flank|LOC146336_uc002ckp.1_5'Flank|SSTR5_uc002ckq.3_Silent_p.G183G	NM_001172560	NP_001166031	P35346	SSR5_HUMAN	Homo sapiens somatostatin receptor 5 (SSTR5), transcript variant 2, mRNA.	183					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	TGCAGGAGGGCGGTACCTGCA	0.716												
TMC5	79838	broad.mit.edu	37	16	19451842	19451842	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr16:19451842C>T	uc002dgc.4	+	2	1231	c.482C>T	c.(481-483)cCg>cTg	p.P161L	TMC5_uc010vaq.2_Missense_Mutation_p.P161L|TMC5_uc002dgb.4_Missense_Mutation_p.P161L|TMC5_uc010var.2_Missense_Mutation_p.P161L	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	161						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCCTTAGAACCGGACTACCCT	0.478												
OTOA	146183	broad.mit.edu	37	16	21689852	21689852	+	Missense_Mutation	SNP	C	C	T	rs144912852		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr16:21689852C>T	uc002djh.3	+	0	18	c.17C>T	c.(16-18)aCg>aTg	p.T6M	LOC23117_uc021tel.1_Intron	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	6					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CAGGAACCTACGACATACTCC	0.373												
GTF3C1	2975	broad.mit.edu	37	16	27518426	27518426	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr16:27518426C>T	uc002dov.2	-	8	1334	c.1294G>A	c.(1294-1296)Gtg>Atg	p.V432M	GTF3C1_uc002dou.3_Missense_Mutation_p.V432M	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	432						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TCTGCAAACACGCAGGAAATG	0.552												
MFSD6L	162387	broad.mit.edu	37	17	8701786	8701786	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr17:8701786C>A	uc002glp.2	-	0	882	c.653G>T	c.(652-654)gGg>gTg	p.G218V		NM_152599	NP_689812	Q8IWD5	MFS6L_HUMAN	Homo sapiens major facilitator superfamily domain containing 6-like (MFSD6L), mRNA.	218						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						ATTCCCGGGCCCTTTCCCCCC	0.577												
UNC45B	146862	broad.mit.edu	37	17	33504108	33504108	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr17:33504108G>A	uc002hja.3	+	15	2201	c.2104G>A	c.(2104-2106)Gct>Act	p.A702T	UNC45B_uc002hjb.3_Missense_Mutation_p.A700T|UNC45B_uc002hjc.3_Missense_Mutation_p.A700T|UNC45B_uc010cto.3_Missense_Mutation_p.A621T	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.	702					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				AGCAAAGATCGCTGCTGTCTC	0.572												
SCN4A	6329	broad.mit.edu	37	17	62025418	62025418	+	Silent	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr17:62025418G>A	uc002jds.1	-	16	3227	c.3150C>T	c.(3148-3150)ttC>ttT	p.F1050F		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	1050					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	AGATGTCCTCGAAGGCCTGGG	0.602												
AZI1	22994	broad.mit.edu	37	17	79170626	79170626	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr17:79170626C>T	uc002jzp.1	-	15	1983	c.1783_splice	c.e15-1	p.A595_splice	AZI1_uc002jzm.1_Splice_Site_p.A22_splice|AZI1_uc002jzn.1_Splice_Site_p.A592_splice|AZI1_uc002jzo.1_Splice_Site_p.A592_splice|AZI1_uc010wum.1_Splice_Site_p.A595_splice|AZI1_uc002jzq.3_5'Flank	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	Homo sapiens 5-azacytidine induced 1 (AZI1), transcript variant 1, mRNA.	595					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CGCTGCTGCGCCTGCAGGGTG	0.687												
LAMA3	3909	broad.mit.edu	37	18	21511088	21511089	+	Frame_Shift_Ins	INS	-	-	G	rs1154233	by1000genomes	TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr18:21511088_21511089insG	uc002kuq.3	+	64	8585_8586	c.8499_8500insG	c.(8497-8502)ggcagcfs	p.G2833fs	LAMA3_uc002kur.3_Frame_Shift_Ins_p.G2777fs|LAMA3_uc002kus.4_Frame_Shift_Ins_p.G1224fs|LAMA3_uc002kut.4_Frame_Shift_Ins_p.G1168fs	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	2833	Laminin G-like 3.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.S2834I(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCGATAGCGGCAGCCCAATTTT	0.411												
CNN2	1265	broad.mit.edu	37	19	1037646	1037646	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr19:1037646delC	uc002lqu.3	+	6	1040	c.677delC	c.(676-678)accfs	p.T226fs	ABCA7_uc002lqw.4_5'Flank|CNN2_uc002lqv.3_Frame_Shift_Del_p.T187fs|CNN2_uc010xgb.2_Frame_Shift_Del_p.T215fs|CNN2_uc010xgc.2_Frame_Shift_Del_p.T247fs|ABCA7_uc010dsa.3_5'Flank	NM_004368	NP_004359	Q99439	CNN2_HUMAN	Homo sapiens calponin 2 (CNN2), transcript variant 1, mRNA.	226					actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		GCTCCCGGGACCCGGCGGCAC	0.632												
FBN3	84467	broad.mit.edu	37	19	8162272	8162272	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr19:8162272C>T	uc002mjf.3	-	40	5205	c.5188G>A	c.(5188-5190)Gcc>Acc	p.A1730T		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1730	EGF-like 26; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCACAGATGGCGGGGATCTCC	0.597												
UNC13A	23025	broad.mit.edu	37	19	17769035	17769035	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr19:17769035G>T	uc021uqk.1	-	8	645	c.603C>A	c.(601-603)taC>taA	p.Y201*		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	201					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.Y289*(1)|p.Y201*(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TTTCACTGCGGTAGTCACTGT	0.562												
LRP3	4037	broad.mit.edu	37	19	33695616	33695616	+	Silent	SNP	A	A	C			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr19:33695616A>C	uc010edh.3	+	3	426	c.333A>C	c.(331-333)ccA>ccC	p.P111P	LRP3_uc010xrp.1_5'UTR|LRP3_uc002nuk.4_5'UTR	NM_002333	NP_002324	O75074	LRP3_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 3 (LRP3), mRNA.	111	CUB 1.				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity	p.P111P(2)		breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					CAGCAGCCCCACCCCGCCAGG	0.662												
MAG	4099	broad.mit.edu	37	19	35793483	35793483	+	Missense_Mutation	SNP	C	C	T	rs144554089		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr19:35793483C>T	uc002nyy.2	+	6	1301	c.1103C>T	c.(1102-1104)aCg>aTg	p.T368M	MAG_uc002nyx.2_Missense_Mutation_p.T368M|MAG_uc010eds.2_Missense_Mutation_p.T343M|MAG_uc002nyz.2_Missense_Mutation_p.T368M	NM_002361	NP_001186145	P20916	MAG_HUMAN	Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA.	368	Ig-like C2-type 3.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	p.T368M(2)|p.T368T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ATCCTGTCCACGGTCATCTAC	0.582												
RYR1	6261	broad.mit.edu	37	19	38958338	38958338	+	Silent	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr19:38958338C>T	uc002oit.3	+	24	3397	c.3267C>T	c.(3265-3267)ttC>ttT	p.F1089F	RYR1_uc002oiu.3_Silent_p.F1089F	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1089	6 X approximate repeats.|B30.2/SPRY 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCTGGTACTTCGAGTTTGAAG	0.592												
CYP2S1	29785	broad.mit.edu	37	19	41700569	41700569	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr19:41700569G>A	uc002opw.3	+	1	353	c.298G>A	c.(298-300)Ggc>Agc	p.G100S	CYP2S1_uc010xvx.2_5'UTR	NM_030622	NP_085125	Q96SQ9	CP2S1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily S, polypeptide 1 (CYP2S1), mRNA.	100					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity	p.G100S(2)|p.S99G(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						GGAGTTCAGCGGCCGGGGAAC	0.637												
SCAF1	58506	broad.mit.edu	37	19	50157645	50157645	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr19:50157645C>T	uc002poq.3	+	7	3480	c.3356C>T	c.(3355-3357)gCg>gTg	p.A1119V		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	Homo sapiens SR-related CTD-associated factor 1 (SCAF1), mRNA.	1119					mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GCCAACCTGGCGAGCCGAGCG	0.607												
NLRP13	126204	broad.mit.edu	37	19	56424553	56424553	+	Silent	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr19:56424553G>A	uc010ygg.2	-	4	655	c.630C>T	c.(628-630)gaC>gaT	p.D210D		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	210							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CCTCATGTTCGTCCTTTGATG	0.498												
XDH	7498	broad.mit.edu	37	2	31595165	31595165	+	Silent	SNP	G	G	A	rs140066757		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr2:31595165G>A	uc002rnv.1	-	16	1864	c.1785C>T	c.(1783-1785)gaC>gaT	p.D595D		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	595					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GAGGAATGTCGTCACAGTACA	0.647												
STRN	6801	broad.mit.edu	37	2	37121134	37121153	+	Frame_Shift_Del	DEL	CTCGATCTTCACCGCTGTCA	CTCGATCTTCACCGCTGTCA	-			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr2:37121134_37121153delCTCGATCTTCACCGCTGTCA	uc002rpn.3	-	6	828_847	c.819_838delTGACAGCGGTGAAGATCGAG	c.(817-840)cctgacagcggtgaagatcgagatfs	p.P273fs	STRN_uc010ezx.3_Frame_Shift_Del_p.P273fs	NM_003162	NP_003153	O43815	STRN_HUMAN	Homo sapiens striatin, calmodulin binding protein (STRN), mRNA.	273					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding	p.D274E(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TCTTTTGTATCTCGATCTTCACCGCTGTCAGGCAATGCTT	0.368												
SLC9A4	389015	broad.mit.edu	37	2	103149061	103149061	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr2:103149061G>T	uc002tbz.4	+	11	2768	c.2311G>T	c.(2311-2313)Gtt>Ttt	p.V771F		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	771					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						GGCCTCTTTGGTTGAGGTTCG	0.537												
PKP4	8502	broad.mit.edu	37	2	159519424	159519424	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr2:159519424G>A	uc002tzv.3	+	13	2487	c.2227G>A	c.(2227-2229)Gtg>Atg	p.V743M	PKP4_uc002tzt.1_Missense_Mutation_p.V595M|PKP4_uc002tzu.3_Missense_Mutation_p.V743M|PKP4_uc002tzw.3_Missense_Mutation_p.V743M|PKP4_uc002tzx.3_Missense_Mutation_p.V400M|PKP4_uc002tzy.1_Missense_Mutation_p.V401M|PKP4_uc002uaa.3_Missense_Mutation_p.V595M|AK126351_uc002uab.1_Intron|PKP4_uc002uac.3_5'UTR	NM_003628	NP_003619	Q99569	PKP4_HUMAN	Homo sapiens plakophilin 4 (PKP4), transcript variant 1, mRNA.	743					cell adhesion	desmosome	protein binding	p.V743M(2)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						GGAGAACTGCGTGTGCACCCT	0.498										HNSCC(62;0.18)		
ASNSD1	54529	broad.mit.edu	37	2	190531945	190531945	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr2:190531945A>G	uc002uqt.3	+	3	1521	c.1087A>G	c.(1087-1089)Atg>Gtg	p.M363V		NM_019048	NP_061921	Q9NWL6	ASND1_HUMAN	Homo sapiens asparagine synthetase domain containing 1 (ASNSD1), mRNA.	363	Asparagine synthetase.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			AGAAAAGACCATGCCAACTAC	0.378												
ZSWIM3	140831	broad.mit.edu	37	20	44506102	44506102	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr20:44506102G>A	uc002xqd.3	+	1	1150	c.905G>A	c.(904-906)cGc>cAc	p.R302H	ZSWIM3_uc010zxg.2_Missense_Mutation_p.R296H	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN	Homo sapiens zinc finger, SWIM-type containing 3 (ZSWIM3), transcript variant 1, mRNA.	302							zinc ion binding	p.A301A(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				CCTGCTGCCCGCATCCTCCTT	0.502												
KRTAP15-1	254950	broad.mit.edu	37	21	31812738	31812738	+	Silent	SNP	C	C	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr21:31812738C>A	uc002yod.3	+	0	93	c.93C>A	c.(91-93)ccC>ccA	p.P31P		NM_181623	NP_853654	Q3LI76	KR151_HUMAN	Homo sapiens keratin associated protein 15-1 (KRTAP15-1), mRNA.	31						intermediate filament				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						TGTTCTACCCCAGCAATGCCA	0.478												
SLC5A3	6526	broad.mit.edu	37	21	35468403	35468404	+	Frame_Shift_Ins	INS	-	-	G			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr21:35468403_35468404insG	uc021wir.1	+	0	906_907	c.906_907insG	c.(904-909)gctggcfs	p.A302fs	SLC5A3_uc002yto.3_Frame_Shift_Ins_p.A302fs|MRPS6_uc002ytp.2_Intron	NM_006933	NP_008864	P53794	SC5A3_HUMAN	Homo sapiens solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 (SLC5A3), mRNA.	302						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						CTCTTATGGCTGGCTTCTTAAA	0.470												
MICAL3	57553	broad.mit.edu	37	22	18301237	18301238	+	Frame_Shift_Ins	INS	-	-	C			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr22:18301237_18301238insC	uc002zng.4	-	25	4542_4543	c.4189_4190insG	c.(4189-4191)gagfs	p.E1397fs	MICAL3_uc011agl.2_Frame_Shift_Ins_p.E1313fs|MICAL3_uc010gre.2_5'Flank	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	1397	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GGACAACGGCTCGCCTTCCGGC	0.644												
DERL3	91319	broad.mit.edu	37	22	24179323	24179323	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr22:24179323A>G	uc002zyk.4	-	5	567	c.542T>C	c.(541-543)aTc>aCc	p.I181T	DERL3_uc002zyh.3_Missense_Mutation_p.I181T|DERL3_uc002zyi.3_Missense_Mutation_p.I181T|DERL3_uc002zyj.3_Silent_p.Y137Y|DERL3_uc021wmv.1_5'Flank	NM_001135751	NP_001129223	Q96Q80	DERL3_HUMAN	Homo sapiens Der1-like domain family, member 3 (DERL3), transcript variant 1, mRNA.	181					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process	integral to endoplasmic reticulum membrane	protein binding			ovary(1)|prostate(1)|skin(1)	3						GAAGTAGTAGATATGGCCCAC	0.632												
SYN3	8224	broad.mit.edu	37	22	32909719	32909719	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr22:32909719C>T	uc003amx.3	-	12	1865	c.1703G>A	c.(1702-1704)cGc>cAc	p.R568H	SYN3_uc003amy.3_3'UTR|SYN3_uc003amz.3_Missense_Mutation_p.R567H	NM_003490	NP_003481	O14994	SYN3_HUMAN	Homo sapiens synapsin III (SYN3), transcript variant IIIa, mRNA.	568	E.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	p.R568H(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CCTCAGGTTGCGGATGGTTTC	0.572												
NAGA	4668	broad.mit.edu	37	22	42458918	42458918	+	Silent	SNP	G	G	A	rs144984228		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr22:42458918G>A	uc003bbw.4	-	6	1415	c.870C>T	c.(868-870)tcC>tcT	p.S290S		NM_000262	NP_000253	P17050	NAGAB_HUMAN	Homo sapiens N-acetylgalactosaminidase, alpha- (NAGA), mRNA.	290					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						TGTTCTGGGCGGAGATGGTAC	0.557												
CNTN4	152330	broad.mit.edu	37	3	2861249	2861249	+	Silent	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr3:2861249G>A	uc003bpc.3	+	6	777	c.438G>A	c.(436-438)ccG>ccA	p.P146P	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc021wsg.1_Silent_p.P146P|CNTN4_uc003bpd.1_Silent_p.P146P	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	146	Ig-like C2-type 2.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TGTGTGGCCCGCCACCCCATT	0.453												
TRIM71	131405	broad.mit.edu	37	3	32933041	32933041	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr3:32933041G>A	uc003cff.3	+	3	2408	c.2345G>A	c.(2344-2346)cGc>cAc	p.R782H		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	782					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CAGTCGGCACGCTTTCTGGGC	0.617												
SDHAP2	727956	broad.mit.edu	37	3	195400814	195400815	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr3:195400814_195400815insTT	uc003fuw.3	+	8	1304_1305	c.110_111insTT	c.(109-111)tctfs	p.S37fs	SDHAP2_uc011btb.1_Frame_Shift_Ins_p.V184fs|SDHAP2_uc011btc.1_Non-coding_Transcript|SDHAP2_uc003fuv.3_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA.																		ACCTGGTTGTCTGGTCAGGCAT	0.574												
ABCA11P	170960	broad.mit.edu	37	4	436548	436548	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr4:436548C>T	uc003gaf.4	-	2	2030	c.1804G>A	c.(1804-1806)Gca>Aca	p.A602T	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.2_Intron|ABCA11P_uc003gae.3_Intron|ABCA11P_uc010ibd.2_Intron|ABCA11P_uc003gag.3_Missense_Mutation_p.A570T|ABCA11P_uc010ibe.3_Missense_Mutation_p.A558T	NM_133474	NP_597731			Homo sapiens zinc finger protein 721 (ZNF721), mRNA.																		TAAAGGTTTGCGGACTGTCTA	0.418												
CNGA1	1259	broad.mit.edu	37	4	47939480	47939480	+	Missense_Mutation	SNP	C	C	T	rs150374036	by1000genomes	TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr4:47939480C>T	uc003gxu.3	-	9	1379	c.1238G>A	c.(1237-1239)cGt>cAt	p.R413H	BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Missense_Mutation_p.R344H	NM_001142564	NP_000078	P29973	CNGA1_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA.	344					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TCTAGCCAAACGGCCAAATTC	0.413												
PDGFRA	5156	broad.mit.edu	37	4	55133834	55133834	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr4:55133834G>C	uc003han.4	+	6	1378	c.1047G>C	c.(1045-1047)tgG>tgC	p.W349C	PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.W243C|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	349	Ig-like C2-type 4.				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	p.W349C(2)		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)	GGATATCCTGGCTGAAAAACA	0.443			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)		
UFSP2	55325	broad.mit.edu	37	4	186334930	186334930	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr4:186334930T>C	uc003ixo.2	-	6	898	c.781A>G	c.(781-783)Att>Gtt	p.I261V	UFSP2_uc003ixq.2_Missense_Mutation_p.I151V	NM_018359	NP_060829	Q9NUQ7	UFSP2_HUMAN	Homo sapiens UFM1-specific peptidase 2 (UFSP2), transcript variant 1, mRNA.	261						endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		GGATTTCTAATGTAACCATCT	0.363												
TUBB7P	56604	broad.mit.edu	37	4	190904151	190904152	+	Frame_Shift_Ins	INS	-	-	G			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr4:190904151_190904152insG	uc011clg.2	-	3	833_834	c.615_616insC	c.(613-618)ggcagcfs	p.G205fs				Q99867	TBB4Q_HUMAN	Synthetic construct DNA, clone: pF1KB7231, Homo sapiens TUBB4Q gene for tubulin, beta polypeptide 4, member Q, without stop codon, in Flexi system.	277					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity										TACTGCTGGCTGCCCCGGCTGG	0.614												
CCT5	22948	broad.mit.edu	37	5	10262653	10262653	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr5:10262653C>A	uc003jeq.3	+	8	1411	c.1240C>A	c.(1240-1242)Cgc>Agc	p.R414S	CCT5_uc011cmr.2_Missense_Mutation_p.R359S|CCT5_uc011cms.2_Missense_Mutation_p.R376S|CCT5_uc011cmt.2_Missense_Mutation_p.R321S	NM_012073	NP_036205	P48643	TCPE_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 5 (epsilon) (CCT5), mRNA.	414					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding	p.I413I(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						GAACCTCATCCGCGATAATCG	0.493												
SNX18	112574	broad.mit.edu	37	5	53815264	53815264	+	Silent	SNP	C	C	G			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr5:53815264C>G	uc003jpj.4	+	0	1672	c.1482C>G	c.(1480-1482)gcC>gcG	p.A494A	SNX18_uc011cqg.2_Silent_p.A494A|SNX18_uc003jpi.4_Silent_p.A494A	NM_052870	NP_443102	Q96RF0	SNX18_HUMAN	Homo sapiens sorting nexin 18 (SNX18), transcript variant 2, mRNA.	494	BAR.				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				AGGCTATCGCCTTCACCGGAG	0.617												
FAM53C	51307	broad.mit.edu	37	5	137680780	137680781	+	Frame_Shift_Ins	INS	-	-	G			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr5:137680780_137680781insG	uc003lcv.3	+	3	873_874	c.403_404insG	c.(403-405)cggfs	p.R135fs	FAM53C_uc003lcw.3_Frame_Shift_Ins_p.R135fs|FAM53C_uc011cyq.2_Intron|FAM53C_uc011cyr.2_Intron	NM_001135647	NP_057689	Q9NYF3	FA53C_HUMAN	Homo sapiens family with sequence similarity 53, member C (FAM53C), transcript variant 1, mRNA.	135										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GCCGGTGTGGCGGCCCGCCCCC	0.683												
PCDHAC2	56138	broad.mit.edu	37	5	140250296	140250296	+	Silent	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr5:140250296G>A	uc003lia.2	+	0	2466	c.1608G>A	c.(1606-1608)gcG>gcA	p.A536A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Silent_p.A536A	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	551	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGAGCGCGCGCGATGCGG	0.667												
PCDHGC5	56101	broad.mit.edu	37	5	140779096	140779096	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr5:140779096G>A	uc003lkf.2	+	0	1402	c.1402G>A	c.(1402-1404)Gcg>Acg	p.A468T	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc011daw.2_Missense_Mutation_p.A468T	NM_018925	NP_061748	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 5 (PCDHGB5), transcript variant 1, mRNA.	474	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCTCCATCGCGCAAGTCTG	0.567												
RANBP17	64901	broad.mit.edu	37	5	170351426	170351426	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr5:170351426C>T	uc003mba.3	+	11	1482	c.1340C>T	c.(1339-1341)aCg>aTg	p.T447M	RANBP17_uc003max.2_Non-coding_Transcript|RANBP17_uc003may.2_Non-coding_Transcript|RANBP17_uc003maz.2_Non-coding_Transcript|RANBP17_uc010jjr.2_Non-coding_Transcript	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Homo sapiens RAN binding protein 17 (RANBP17), mRNA.	447					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	p.T447M(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAGTTGTGCACGGTCAGCAGA	0.413			T	TRD@	ALL							
PKHD1	5314	broad.mit.edu	37	6	51890717	51890717	+	Silent	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr6:51890717C>T	uc003pah.1	-	31	4167	c.3891G>A	c.(3889-3891)gcG>gcA	p.A1297A	PKHD1_uc003pai.3_Silent_p.A1297A	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1297					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.A1297V(1)|p.A1297T(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTGTTGCTGCCGCTTCATACA	0.547												
ENPP1	5167	broad.mit.edu	37	6	132203516	132203516	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr6:132203516G>C	uc011ecf.2	+	20	2152	c.2132G>C	c.(2131-2133)tGt>tCt	p.C711S		NM_006208	NP_006199	P22413	ENPP1_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), mRNA.	711	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TTCTCCAACTGTCTGTACCAG	0.383												
BBS9	27241	broad.mit.edu	37	7	33397475	33397475	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr7:33397475C>T	uc003tdn.1	+	15	2074	c.1561C>T	c.(1561-1563)Cga>Tga	p.R521*	BBS9_uc003tdo.1_Nonsense_Mutation_p.R486*|BBS9_uc003tdp.1_Nonsense_Mutation_p.R516*|BBS9_uc003tdq.1_Nonsense_Mutation_p.R481*|BBS9_uc010kwn.1_Non-coding_Transcript|BBS9_uc003tdr.1_Nonsense_Mutation_p.R45*|BBS9_uc003tds.1_5'UTR|BBS9_uc011kao.1_Nonsense_Mutation_p.R399*	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	Homo sapiens Bardet-Biedl syndrome 9 (BBS9), transcript variant 2, mRNA.	521			R -> Q (in dbSNP:rs34218557).		fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	p.R521Q(1)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			AGGCATTCCGCGAGTTATCCA	0.323									Bardet-Biedl syndrome			
AOAH	313	broad.mit.edu	37	7	36571797	36571797	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr7:36571797C>T	uc022abu.1	-	17	1782	c.1381G>A	c.(1381-1383)Ggc>Agc	p.G461S	AOAH_uc003tfh.4_Missense_Mutation_p.G461S|AOAH_uc011kba.2_Missense_Mutation_p.G429S	NM_001177506	NP_001170977	P28039	AOAH_HUMAN	Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.	461					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	p.H460H(2)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						GACATCCAGCCGTGGCAGGGG	0.512												
GPR141	353345	broad.mit.edu	37	7	37780909	37780909	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr7:37780909G>T	uc003tfm.1	+	0	914	c.914G>T	c.(913-915)cGt>cTt	p.R305L	BC043356_uc003tfl.3_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA.	305						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R305L(4)|p.R305H(2)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTTTTGTGCCGTTAGCCACAA	0.363												
EPDR1	54749	broad.mit.edu	37	7	37989842	37989842	+	Silent	SNP	T	T	C			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr7:37989842T>C	uc003tfp.3	+	2	898	c.879T>C	c.(877-879)taT>taC	p.Y293Y	EPDR1_uc003tfq.3_3'UTR|EPDR1_uc010kxh.3_Silent_p.Y112Y	NM_017549	NP_060019	Q9UM22	EPDR1_HUMAN	Homo sapiens ependymin related protein 1 (zebrafish) (EPDR1), transcript variant 1, mRNA.	173					cell-matrix adhesion	extracellular region	calcium ion binding	p.Y293C(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						AGGATTGCTATCCTGTCCAGG	0.388												
VSTM2A	222008	broad.mit.edu	37	7	54612435	54612435	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr7:54612435G>A	uc022adk.1	+	1	605	c.200G>A	c.(199-201)cGg>cAg	p.R67Q	VSTM2A_uc010kzf.3_Missense_Mutation_p.R67Q	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	Homo sapiens V-set and transmembrane domain containing 2A (VSTM2A), mRNA.	67	Ig-like V-type.					extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			TGGTTCCTGCGGGGGCCGGAG	0.716												
EGFR	1956	broad.mit.edu	37	7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	rs139236063		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr7:55233043G>T	uc003tqk.3	+	14	2039	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_uc003tqi.3_Missense_Mutation_p.G598V|EGFR_uc003tqj.3_Missense_Mutation_p.G598V|EGFR_uc022adm.1_Missense_Mutation_p.G598V|EGFR_uc010kzg.2_Missense_Mutation_p.G553V|EGFR_uc022adn.1_Missense_Mutation_p.G553V|EGFR_uc011kco.2_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	598					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G598V(31)|p.A597T(1)|p.A597P(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
EGFR	1956	broad.mit.edu	37	7	55233091	55233091	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr7:55233091G>A	uc003tqk.3	+	14	2087	c.1841G>A	c.(1840-1842)gGc>gAc	p.G614D	EGFR_uc003tqi.3_Missense_Mutation_p.G614D|EGFR_uc003tqj.3_Missense_Mutation_p.G614D|EGFR_uc022adm.1_Missense_Mutation_p.G614D|EGFR_uc010kzg.2_Missense_Mutation_p.G569D|EGFR_uc022adn.1_Missense_Mutation_p.G569D|EGFR_uc011kco.2_Missense_Mutation_p.G561D|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	614					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GCAGACGCCGGCCATGTGTGC	0.537		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
KIAA1324L	222223	broad.mit.edu	37	7	86548556	86548556	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr7:86548556G>T	uc011kha.2	-	10	1655	c.1470C>A	c.(1468-1470)aaC>aaA	p.N490K	KIAA1324L_uc003uie.3_Missense_Mutation_p.N323K|KIAA1324L_uc011kgz.2_Missense_Mutation_p.N376K|KIAA1324L_uc003uif.2_Missense_Mutation_p.N242K	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	490						integral to membrane		p.L489L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					GGATATGCAAGTTTAAGATCA	0.373												
FAM200A	221786	broad.mit.edu	37	7	99145995	99145995	+	Silent	SNP	A	A	C			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr7:99145995A>C	uc003ura.3	-	1	416	c.36T>G	c.(34-36)tcT>tcG	p.S12S	FAM200A_uc003urb.3_Silent_p.S12S|FAM200A_uc022aia.1_Silent_p.S12S	NM_145111	NP_659802	Q8TCP9	F200A_HUMAN	Homo sapiens family with sequence similarity 200, member A (FAM200A), mRNA.	12						integral to membrane	nucleic acid binding			endometrium(1)|kidney(5)|large_intestine(2)|ovary(2)|skin(1)	11						TACCCCCTGGAGACAAATCTG	0.453												
FBXO24	26261	broad.mit.edu	37	7	100197689	100197689	+	Silent	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr7:100197689C>T	uc011kjz.1	+	8	1424	c.1356C>T	c.(1354-1356)tgC>tgT	p.C452C	FBXO24_uc003uvm.1_Silent_p.C414C|FBXO24_uc003uvn.1_Intron|LOC100129845_uc011kjy.2_Non-coding_Transcript|FBXO24_uc011kka.1_Silent_p.C402C|LOC100129845_uc022air.1_Intron|PCOLCE_uc011kkb.1_5'Flank|PCOLCE_uc003uvo.3_5'Flank	NM_012172	NP_036304	O75426	FBX24_HUMAN	Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA.	414						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCCTGTGGTGCGGCCTCAACC	0.692												
SVOPL	136306	broad.mit.edu	37	7	138314843	138314843	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr7:138314843G>T	uc011kqh.2	-	8	814	c.814C>A	c.(814-816)Cta>Ata	p.L272I	SVOPL_uc003vue.3_Missense_Mutation_p.L120I	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	Homo sapiens SVOP-like (SVOPL), transcript variant 1, mRNA.	272						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						GCATCCAATAGGTCTGCAAAT	0.393												
PRSS3P2	154754	broad.mit.edu	37	7	142481789	142481789	+	Silent	SNP	T	T	C	rs140267598	by1000genomes	TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr7:142481789T>C	uc011ksq.2	+	3	551	c.468T>C	c.(466-468)gaT>gaC	p.D156D	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		ACTACCCAGATGAGCTGCAGT	0.488												
NOS3	4846	broad.mit.edu	37	7	150699051	150699051	+	Missense_Mutation	SNP	C	C	T	rs142781987		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr7:150699051C>T	uc003wif.3	+	12	1941	c.1645C>T	c.(1645-1647)Cgg>Tgg	p.R549W	NOS3_uc011kuy.2_Missense_Mutation_p.R343W|NOS3_uc011kva.2_Missense_Mutation_p.R549W|NOS3_uc011kuz.2_Missense_Mutation_p.R549W|NOS3_uc011kvb.2_Missense_Mutation_p.R549W	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	549	Flavodoxin-like.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	TTTTGATCCCCGGGTAGGGCT	0.612												
NEIL2	252969	broad.mit.edu	37	8	11643604	11643604	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr8:11643604G>A	uc003wug.2	+	4	1496	c.821G>A	c.(820-822)gGc>gAc	p.G274D	NEIL2_uc003wue.2_Missense_Mutation_p.G274D|NEIL2_uc003wuf.2_Missense_Mutation_p.G213D|NEIL2_uc011kxd.1_Missense_Mutation_p.G158D	NM_145043	NP_001129219	Q969S2	NEIL2_HUMAN	Homo sapiens nei endonuclease VIII-like 2 (E. coli) (NEIL2), transcript variant 1, mRNA.	274					base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		TGGCTGCAGGGCAAGTTCCAA	0.607								Base excision repair (BER), DNA glycosylases				
DOCK5	80005	broad.mit.edu	37	8	25191663	25191663	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr8:25191663G>A	uc003xeg.3	+	20	2280	c.2143G>A	c.(2143-2145)Gta>Ata	p.V715I	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.V429I|DOCK5_uc003xei.3_Missense_Mutation_p.V285I|DOCK5_uc003xej.3_Non-coding_Transcript	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	715						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TTTTAATCCTGTACTTGAAAC	0.368												
TEX15	56154	broad.mit.edu	37	8	30700748	30700748	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr8:30700748T>C	uc003xil.3	-	0	5786	c.5786A>G	c.(5785-5787)cAg>cGg	p.Q1929R		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	1929										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ATATATCTTCTGCAACTTAGA	0.358												
ST18	9705	broad.mit.edu	37	8	53025895	53025895	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr8:53025895G>A	uc003xqz.2	-	20	3163	c.3007C>T	c.(3007-3009)Cct>Tct	p.P1003S	ST18_uc011ldq.1_Missense_Mutation_p.P650S|ST18_uc011ldr.1_Missense_Mutation_p.P968S|ST18_uc011lds.1_Missense_Mutation_p.P908S|ST18_uc003xra.2_Missense_Mutation_p.P1003S	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	1003						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TCACTGATAGGTCCCTAAATG	0.463												
CPA6	57094	broad.mit.edu	37	8	68334862	68334862	+	Silent	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr8:68334862G>A	uc003xxq.4	-	10	1447	c.1191C>T	c.(1189-1191)ttC>ttT	p.F397F	CPA6_uc003xxr.4_Silent_p.F153F	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	Homo sapiens carboxypeptidase A6 (CPA6), mRNA.	397					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			CACGTAGTTCGAAAGCAAATG	0.383												
JPH1	56704	broad.mit.edu	37	8	75171694	75171694	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr8:75171694G>A	uc003yae.3	-	2	1224	c.1184C>T	c.(1183-1185)gCg>gTg	p.A395V	JPH1_uc003yaf.3_Missense_Mutation_p.A395V|JPH1_uc003yag.1_Missense_Mutation_p.A259V	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	Homo sapiens junctophilin 1 (JPH1), mRNA.	395	Ala-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		p.A395T(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			AGCGGCCAGCGCGGCCTGGTC	0.597												
RAD54B	25788	broad.mit.edu	37	8	95412584	95412584	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr8:95412584C>T	uc003ygk.3	-	6	1183	c.1052G>A	c.(1051-1053)gGc>gAc	p.G351D	RAD54B_uc010may.2_Missense_Mutation_p.G167D|RAD54B_uc003ygl.2_Non-coding_Transcript	NM_012415	NP_001192192	O95073	FSBP_HUMAN	Homo sapiens RAD54 homolog B (S. cerevisiae) (RAD54B), transcript variant 1, mRNA.	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			TACTGGCTTGCCTCCATAGGG	0.433								Direct reversal of damage;Homologous recombination				
TRPS1	7227	broad.mit.edu	37	8	116616647	116616647	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr8:116616647C>G	uc003yny.3	-	3	2127	c.1549G>C	c.(1549-1551)Ggg>Cgg	p.G517R	TRPS1_uc011lhy.2_Missense_Mutation_p.G508R|TRPS1_uc003ynz.3_Missense_Mutation_p.G504R|TRPS1_uc010mcy.3_Missense_Mutation_p.G504R	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	504					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TTTTTAGCCCCACTCGAGCTC	0.438									Langer-Giedion syndrome			
DMRTA1	63951	broad.mit.edu	37	9	22447335	22447336	+	Frame_Shift_Ins	INS	-	-	A	rs111465355		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr9:22447335_22447336insA	uc003zpp.1	+	0	496_497	c.271_272insA	c.(271-273)tacfs	p.Y91fs		NM_022160	NP_071443	Q5VZB9	DMRTA_HUMAN	Homo sapiens DMRT-like family A1 (DMRTA1), mRNA.	91					cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		GGGCTGCGGCTACCCGCGGACG	0.762												
VAV2	7410	broad.mit.edu	37	9	136653541	136653541	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr9:136653541C>T	uc004ces.3	-	14	1388	c.1342G>A	c.(1342-1344)Gag>Aag	p.E448K	VAV2_uc004cer.3_Missense_Mutation_p.E443K|VAV2_uc004cet.1_5'UTR	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	Homo sapiens vav 2 guanine nucleotide exchange factor (VAV2), transcript variant 1, mRNA.	448	PH.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		TCGATGATCTCCTTGAGCTCG	0.592												
AMELX	265	broad.mit.edu	37	X	11316747	11316747	+	Missense_Mutation	SNP	C	C	T	rs148259441		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chrX:11316747C>T	uc004cus.3	+	5	334	c.266C>T	c.(265-267)cCg>cTg	p.P89L	ARHGAP6_uc004cup.1_Intron|ARHGAP6_uc004cuo.1_Intron|ARHGAP6_uc004cur.1_Intron|ARHGAP6_uc004cun.1_Intron|ARHGAP6_uc011mif.1_Intron|AMELX_uc004cut.3_Missense_Mutation_p.P75L|AMELX_uc004cuu.3_Missense_Mutation_p.P59L	NM_182680	NP_872621	Q99217	AMELX_HUMAN	Homo sapiens amelogenin, X-linked (AMELX), transcript variant 3, mRNA.	75					cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel	p.P89T(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						CAGCACCCCCCGACTCACACC	0.602												
ZCCHC16	340595	broad.mit.edu	37	X	111698312	111698312	+	Missense_Mutation	SNP	G	G	C	rs149089921		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chrX:111698312G>C	uc022cct.1	+	0	356	c.356G>C	c.(355-357)aGt>aCt	p.S119T	ZCCHC16_uc004epo.1_Missense_Mutation_p.S119T	NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN	Homo sapiens zinc finger, CCHC domain containing 16 (ZCCHC16), mRNA.	119							nucleic acid binding|zinc ion binding	p.S119T(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						CCTGACAAGAGTACCTTACTG	0.383												
DCAF12L2	340578	broad.mit.edu	37	X	125299765	125299765	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chrX:125299765C>T	uc004euk.2	-	0	316	c.143G>A	c.(142-144)cGt>cAt	p.R48H		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	48										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CAGCCTGCGACGCGTCGCCGG	0.731												
AFF2	2334	broad.mit.edu	37	X	147967460	147967460	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chrX:147967460A>G	uc004fcp.3	+	7	1783	c.1304A>G	c.(1303-1305)gAc>gGc	p.D435G	AFF2_uc004fco.3_Missense_Mutation_p.D396G|AFF2_uc004fcq.3_Missense_Mutation_p.D425G|AFF2_uc004fcr.3_Missense_Mutation_p.D396G|AFF2_uc011mxb.2_Missense_Mutation_p.D400G|AFF2_uc004fcs.3_Missense_Mutation_p.D402G|AFF2_uc011mxc.2_Missense_Mutation_p.D76G	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	435					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GATGAAGATGACCTTGAGCCT	0.483												
TGIF2LY	90655	broad.mit.edu	37	Y	3447632	3447632	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chrY:3447632G>A	uc004fqk.3	+	1	411	c.347G>A	c.(346-348)cGt>cAt	p.R116H	TGIF2LY_uc022ciw.1_Missense_Mutation_p.R116H	NM_139214	NP_631960	Q8IUE0	TF2LY_HUMAN	Homo sapiens TGFB-induced factor homeobox 2-like, Y-linked (TGIF2LY), mRNA.	116						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|upper_aerodigestive_tract(1)	2						CTTCAACAGCGTAGAAACGAC	0.527												
