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	IsMicroSat	NumberOfSatRepeats	IsAdjacentToRepeatRegion	site	is_in_m2pon
HMX2	3167	broad.mit.edu	37	10	124908058	124908064	+	Frame_Shift_Del	DEL	AGCCGGA	AGCCGGA	-			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	AGCCGGA	AGCCGGA	-	-	AGCCGGA	AGCCGGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr10:124908058_124908064delAGCCGGA	ENST00000339992.3	+	1	421_427	c.164_170delAGCCGGA	c.(163-171)gagccggacfs	p.EPD55fs		NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN	H6 family homeobox 2	55					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|lung(4)|prostate(1)	7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		GAGGAGGAGGAGCCGGACGACGGCTGG	0.71		NA											False	1	False	10:124908058	0
OR52B6	340980	broad.mit.edu	37	11	5602663	5602667	+	Frame_Shift_Del	DEL	ACTAT	ACTAT	-			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	ACTAT	ACTAT	-	-	ACTAT	ACTAT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr11:5602663_5602667delACTAT	ENST00000345043.2	+	1	557_561	c.557_561delACTAT	c.(556-561)cactatfs	p.HY186fs	AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGCACCTGCACTATTGCCAGATCA	0.473		NA											False	1	False	11:5602663	0
RBM14-RBM4	0	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000412278.2	+	2	876_896	c.781_801delGCTGCTGCTGCAGCAGCAGCC	c.(781-801)gctgctgctgcagcagcagccdel	p.AAAAAAA261del	RBM4_ENST00000530235.1_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del	NM_001198845.1	NP_001185774.1				NA											NA						tgctgccacagctgctgctgcagcagcagccgctgctgctg	0.615		NA											False	1	True	11:66411364	0
VWA3A	146177	broad.mit.edu	37	16	22161152	22161158	+	Frame_Shift_Del	DEL	ACACGCT	ACACGCT	-			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	ACACGCT	ACACGCT	-	-	ACACGCT	ACACGCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr16:22161152_22161158delACACGCT	ENST00000389398.5	+	29	3125_3131	c.3029_3035delACACGCT	c.(3028-3036)gacacgctgfs	p.DTL1010fs	VWA3A_ENST00000389397.4_Frame_Shift_Del_p.DTL112fs|VWA3A_ENST00000563755.1_Frame_Shift_Del_p.DTL112fs	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	1010	VWFA 2.					extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		TCATGGCAGGACACGCTGGTGGAGACC	0.546		NA											False	1	False	16:22161152	0
AXDND1	126859	broad.mit.edu	37	1	179504035	179504040	+	In_Frame_Del	DEL	AAGAAC	AAGAAC	-	rs6425573		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	AAGAAC	AAGAAC	-	-	AAGAAC	AAGAAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:179504035_179504040delAAGAAC	ENST00000367618.3	+	25	3356_3361	c.2969_2974delAAGAAC	c.(2968-2976)gaagaacaa>gaa	p.EQ991del		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	991	Glu-rich.		E -> Q (in dbSNP:rs6425573).					p.E991_Q992delEQ(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						aaagaagaagaagaacaacaagaaga	0.316		NA											False	1	True	1:179504035	0
RFX1	5989	broad.mit.edu	37	19	14083667	14083711	+	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	-	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr19:14083667_14083711delCCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	ENST00000254325.4	-	9	1392_1436	c.1158_1202delTGGTGGCGGCGGCGGCGGGGGAGGCGGTGGCGGGGGTGGCAGTGG	c.(1156-1203)ggtggtggcggcggcggcgggggaggcggtggcgggggtggcagtggc>ggc	p.386_401GGGGGGGGGGGGGGSG>G		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	386	Gly-rich.				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			tccggtgctgccactgccacccccgccaccgcctcccccgccgccgccgccaccaccactgccac	0.71		NA											False	1	False	19:14083667	0
C1QB	713	broad.mit.edu	37	1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	rs144323459	byFrequency	TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENST00000509305.1	+	3	608_661	c.262_315delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	c.(262-315)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel	p.GPKGPMGPKGGPGAPGAP88del	C1QB_ENST00000314933.6_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP90del			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	90	Collagen-like 2.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAAAAGTCGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCAGGCCCCAAAG	0.618		NA											False	1	True	1:22987385	0
AK9	221264	broad.mit.edu	37	6	109850201	109850201	+	Frame_Shift_Del	DEL	C	C	-	rs72613250		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr6:109850201delC	ENST00000355283.1	-	5	1129	c.883delG	c.(883-885)gttfs	p.V295fs	AK9_ENST00000424296.2_Intron|AK9_ENST00000341338.6_Intron					adenylate kinase 9	NA											NA						aaaaaaaaaacaaaaCTACTT	0.413		NA											False	1	True	6:109850201	0
ZNF733P	0	broad.mit.edu	37	7	62751956	62751957	+	RNA	INS	-	-	C			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr7:62751956_62751957insC	ENST00000331425.6	-	0	1478_1479					NR_003952.1					NA											NA						CTTGAATGCCACTTAAAAGCTT	0.391		NA											False	1	False	7:62751956	0
SLC4A2	6522	broad.mit.edu	37	7	150772809	150772810	+	Frame_Shift_Ins	INS	-	-	A	rs139739553	byFrequency	TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr7:150772809_150772810insA	ENST00000461735.1	+	20	3923_3924	c.3376_3377insA	c.(3376-3378)catfs	p.H1126fs	RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000413384.2_Frame_Shift_Ins_p.H1140fs|SLC4A2_ENST00000310317.5_Frame_Shift_Ins_p.H1058fs|SLC4A2_ENST00000485713.1_Frame_Shift_Ins_p.H1140fs|SLC4A2_ENST00000392826.2_Frame_Shift_Ins_p.H1131fs	NM_001199694.1	NP_001186623.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	1140	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGAGCGGCTGCATCTGCTGCTC	0.599		NA											False	1	False	7:150772809	0
SELL	6402	broad.mit.edu	37	1	169677858	169677858	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:169677858G>A	ENST00000236147.4	-	3	371	c.211C>T	c.(211-213)Cga>Tga	p.R71*	C1orf112_ENST00000498289.1_Intron|SELL_ENST00000463108.1_5'UTR	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	58	C-type lectin.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					TAATTGTCTCGGCAGAATCTT	0.433		NA											False	0	False	1:169677858	0
ALK	238	broad.mit.edu	37	2	29443582	29443582	+	Missense_Mutation	SNP	C	C	T	rs143790259		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr2:29443582C>T	ENST00000389048.3	-	23	4541	c.3635G>A	c.(3634-3636)cGc>cAc	p.R1212H	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1212	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.R1212H(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CGGGCGAGGGCGGGTCTCTCG	0.602		NA	"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				False	0	True	2:29443582	0
PITPNM3	83394	broad.mit.edu	37	17	6428759	6428759	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr17:6428759G>A	ENST00000262483.8	-	3	230	c.143C>T	c.(142-144)gCc>gTc	p.A48V	PITPNM3_ENST00000421306.3_Intron	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	NA					phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		AATGAGGATGGCATTCTTCCC	0.542		NA											False	0	False	17:6428759	0
BAGE2	85319	broad.mit.edu	37	21	11098791	11098791	+	RNA	SNP	C	C	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr21:11098791C>A	ENST00000470054.1	-	0	134									B melanoma antigen family, member 2	NA											NA			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		aacactccagctgcgctgcca	0.632		NA											False	0	True	21:11098791	0
EPOR	2057	broad.mit.edu	37	19	11492697	11492697	+	Silent	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr19:11492697G>A	ENST00000592375.2	-	3	440	c.336C>T	c.(334-336)gcC>gcT	p.A112A	EPOR_ENST00000222139.6_Silent_p.A112A			P19235	EPOR_HUMAN	erythropoietin receptor	112						extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	TCGACGTGTCGGCTGTAGGCA	0.617		NA											False	0	False	19:11492697	0
PIAS3	10401	broad.mit.edu	37	1	145578668	145578668	+	Silent	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:145578668G>A	ENST00000393045.2	+	3	564	c.474G>A	c.(472-474)gcG>gcA	p.A158A	PIAS3_ENST00000369299.3_Silent_p.A149A|PIAS3_ENST00000369298.1_Silent_p.A123A	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	158	PINIT.				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTGAGGAAGCGCACTTTACCT	0.537		NA											False	0	False	1:145578668	0
ZFPM2	23414	broad.mit.edu	37	8	106431448	106431448	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr8:106431448C>G	ENST00000407775.2	+	2	367	c.117C>G	c.(115-117)gaC>gaG	p.D39E	ZFPM2_ENST00000520492.1_5'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	39					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CCAAAGGAGACTTTCCATTGG	0.423		NA											False	0	True	8:106431448	0
HCN4	10021	broad.mit.edu	37	15	73616169	73616169	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr15:73616169G>T	ENST00000261917.3	-	8	3258	c.2265C>A	c.(2263-2265)tgC>tgA	p.C755*		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	755					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CGCGGTGCGCGCAGTGGGCCA	0.637		NA											False	0	True	15:73616169	0
IKZF2	22807	broad.mit.edu	37	2	213914507	213914507	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr2:213914507G>C	ENST00000457361.1	-	5	672	c.504C>G	c.(502-504)ttC>ttG	p.F168L	IKZF2_ENST00000451136.2_Missense_Mutation_p.F142L|IKZF2_ENST00000434687.1_Missense_Mutation_p.F168L|IKZF2_ENST00000413091.3_Missense_Mutation_p.F168L|IKZF2_ENST00000342002.2_Missense_Mutation_p.F174L|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000421754.2_Missense_Mutation_p.F142L|IKZF2_ENST00000374319.4_Missense_Mutation_p.F142L	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	168					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		AAGGACATTTGAACGGCTTCT	0.493		NA											False	0	True	2:213914507	0
WNT7A	7476	broad.mit.edu	37	3	13860914	13860914	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr3:13860914C>A	ENST00000285018.4	-	4	881	c.577G>T	c.(577-579)Gag>Tag	p.E193*		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	193					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						ATGTTCTCCTCCAGGATCTGC	0.657		NA											False	0	False	3:13860914	0
MST1R	4486	broad.mit.edu	37	3	49936064	49936064	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr3:49936064A>G	ENST00000296474.3	-	4	1633	c.1606T>C	c.(1606-1608)Tgc>Cgc	p.C536R	MST1R_ENST00000344206.4_Missense_Mutation_p.C536R	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	536					cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GCCCTTAGGCAACGCCCACAG	0.612		NA											False	0	False	3:49936064	0
MARVELD3	91862	broad.mit.edu	37	16	71674725	71674725	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr16:71674725G>A	ENST00000299952.4	+	3	1071	c.1028G>A	c.(1027-1029)cGc>cAc	p.R343H	MARVELD3_ENST00000561682.1_Intron|MARVELD3_ENST00000565261.1_3'UTR|PHLPP2_ENST00000540628.1_3'UTR	NM_001017967.3|NM_001271329.1	NP_001017967.2|NP_001258258.1	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	346	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				CTCTATGCCCGCAAGGGTCTC	0.587		NA											False	0	True	16:71674725	0
ACOX1	51	broad.mit.edu	37	17	73947567	73947567	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr17:73947567C>T	ENST00000537812.1	-	8	1570	c.922G>A	c.(922-924)Gca>Aca	p.A308T	ACOX1_ENST00000301608.4_Missense_Mutation_p.A346T|ACOX1_ENST00000293217.5_Missense_Mutation_p.A346T	NM_001185039.1	NP_001171968.1	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	346					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						TTCATGTATGCGCCCACAAAC	0.488		NA											False	0	False	17:73947567	0
MEGF10	84466	broad.mit.edu	37	5	126771182	126771182	+	Splice_Site	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr5:126771182G>A	ENST00000274473.6	+	17	2371		c.e17+1		MEGF10_ENST00000503335.2_Splice_Site	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	NA					cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		p.?(1)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TGCTCTCAACGTAAGTCTTGT	0.373		NA											False	0	False	5:126771182	0
CSMD3	114788	broad.mit.edu	37	8	113326150	113326150	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr8:113326150G>A	ENST00000297405.5	-	49	7925	c.7681C>T	c.(7681-7683)Cgg>Tgg	p.R2561W	CSMD3_ENST00000455883.2_Missense_Mutation_p.R2457W|CSMD3_ENST00000343508.3_Missense_Mutation_p.R2521W|CSMD3_ENST00000352409.3_Missense_Mutation_p.R2491W	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2561	CUB 14.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TATCTTATCCGGAAGCCTTTT	0.358		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			False	0	False	8:113326150	0
FSD1	79187	broad.mit.edu	37	19	4310553	4310553	+	Silent	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr19:4310553G>A	ENST00000221856.6	+	6	597	c.450G>A	c.(448-450)gcG>gcA	p.A150A	FSD1_ENST00000597590.1_Silent_p.A150A|FSD1_ENST00000598010.1_3'UTR	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	150	COS.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGACTTCGCGCAAGAGCGGC	0.592		NA											False	0	False	19:4310553	0
CAMTA1	23261	broad.mit.edu	37	1	7798217	7798217	+	Missense_Mutation	SNP	C	C	T	rs139225365		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:7798217C>T	ENST00000303635.7	+	16	4064	c.3857C>T	c.(3856-3858)aCa>aTa	p.T1286I	CAMTA1_ENST00000439411.2_Missense_Mutation_p.T1286I	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GTCCCCGAGACACTCAGCCCC	0.552		NA	T	WWTR1	epitheliod hemangioendothelioma								False	0	False	1:7798217	0
UBE3C	9690	broad.mit.edu	37	7	156974879	156974879	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr7:156974879C>T	ENST00000348165.5	+	8	1208	c.848C>T	c.(847-849)cCg>cTg	p.P283L	UBE3C_ENST00000389103.4_Missense_Mutation_p.P240L	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	283					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TTCATCATTCCGGCGCTTGCA	0.438		NA											False	0	False	7:156974879	0
ITGA7	3679	broad.mit.edu	37	12	56086734	56086734	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr12:56086734C>T	ENST00000257880.7	-	22	3089	c.2870G>A	c.(2869-2871)cGg>cAg	p.R957Q	ITGA7_ENST00000553804.1_Missense_Mutation_p.R917Q|ITGA7_ENST00000452168.2_Missense_Mutation_p.R820Q|ITGA7_ENST00000257879.6_Missense_Mutation_p.R913Q|ITGA7_ENST00000394229.2_Missense_Mutation_p.R913Q|ITGA7_ENST00000347027.6_Missense_Mutation_p.R907Q|ITGA7_ENST00000555728.1_Missense_Mutation_p.R957Q|ITGA7_ENST00000394230.2_Missense_Mutation_p.R917Q			Q13683	ITA7_HUMAN	integrin, alpha 7	957	Poly-Arg.				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CAGCTCCCGCCGCCTCCTATC	0.597		NA											False	0	False	12:56086734	0
ADRA1D	146	broad.mit.edu	37	20	4202204	4202204	+	Missense_Mutation	SNP	G	G	A	rs147522815		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr20:4202204G>A	ENST00000379453.4	-	2	1801	c.1685C>T	c.(1684-1686)gCc>gTc	p.A562V		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	562				KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1).	cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)	GCTGTAGTCGGCCAATTCGTA	0.667		NA									OREG0025743	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	20:4202204	0
THBS4	7060	broad.mit.edu	37	5	79366517	79366517	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr5:79366517G>A	ENST00000350881.2	+	12	1694	c.1504G>A	c.(1504-1506)Ggc>Agc	p.G502S	CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.G411S	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	502					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		AGACAGAGATGGCATTGGCGA	0.517		NA											False	0	False	5:79366517	0
COL3A1	1281	broad.mit.edu	37	2	189850473	189850473	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr2:189850473G>A	ENST00000304636.3	+	4	586	c.416G>A	c.(415-417)gGa>gAa	p.G139E	COL3A1_ENST00000317840.5_Missense_Mutation_p.G139E	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	139					axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGCCCCCCTGGAATCTGTGAA	0.448		NA											False	0	False	2:189850473	0
HIVEP3	59269	broad.mit.edu	37	1	42048455	42048455	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:42048455C>T	ENST00000372584.1	-	3	3028	c.2014G>A	c.(2014-2016)Gca>Aca	p.A672T	HIVEP3_ENST00000372583.1_Missense_Mutation_p.A672T|HIVEP3_ENST00000247584.5_Missense_Mutation_p.A672T|HIVEP3_ENST00000429157.2_Missense_Mutation_p.A672T	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	672	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				ATGGGCTTTGCGATCTGAAGC	0.463		NA											False	0	False	1:42048455	0
LATS2	26524	broad.mit.edu	37	13	21562296	21562296	+	Silent	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr13:21562296C>T	ENST00000382592.4	-	4	2028	c.1623G>A	c.(1621-1623)gaG>gaA	p.E541E	LATS2_ENST00000542899.1_Silent_p.E541E	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	541					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GGAGGCTCTGCTCCATGCCTG	0.657		NA											False	0	False	13:21562296	0
CSRNP2	81566	broad.mit.edu	37	12	51467710	51467710	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr12:51467710G>A	ENST00000228515.1	-	3	604	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W		NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	103					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						GTATAGCTCCGTACAGAGTTA	0.537		NA											False	0	False	12:51467710	0
RTN4	57142	broad.mit.edu	37	2	55252908	55252908	+	Missense_Mutation	SNP	A	A	C			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr2:55252908A>C	ENST00000337526.6	-	3	2570	c.2327T>G	c.(2326-2328)tTt>tGt	p.F776C	RTN4_ENST00000357376.3_Missense_Mutation_p.F570C|RTN4_ENST00000354474.6_Missense_Mutation_p.F544C|RTN4_ENST00000405240.1_Missense_Mutation_p.F570C|RTN4_ENST00000404909.1_Missense_Mutation_p.F570C|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000394611.2_Missense_Mutation_p.F570C	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	776					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						CATTGACTCAAATGAAGTCTC	0.363		NA											False	0	True	2:55252908	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr12:25398285C>G	ENST00000311936.3	-	2	225	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25398285	0
SLC35G5	83650	broad.mit.edu	37	8	11188775	11188775	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr8:11188775G>A	ENST00000382435.4	+	1	379	c.160G>A	c.(160-162)Gtg>Atg	p.V54M		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	AMCL2_HUMAN	solute carrier family 35, member G5	54	DUF6 1.					integral to membrane					NA						TGCTGGCTTCGTGGGCCCCCT	0.662		NA											False	0	False	8:11188775	0
TTN	7273	broad.mit.edu	37	2	179611913	179611913	+	Silent	SNP	T	T	G			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr2:179611913T>G	ENST00000360870.5	-	46	15436	c.15214A>C	c.(15214-15216)Aga>Cga	p.R5072R	TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1179	Ig-like 31.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGGAGTATCTCTCTAGAGTC	0.532		NA											False	0	True	2:179611913	0
IGFBP4	3487	broad.mit.edu	37	17	38609333	38609333	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr17:38609333G>A	ENST00000269593.4	+	2	721	c.446G>A	c.(445-447)cGg>cAg	p.R149Q	IGFBP4_ENST00000542955.1_Missense_Mutation_p.R49Q	NM_001552.2	NP_001543.2	P22692	IBP4_HUMAN	insulin-like growth factor binding protein 4	149					DNA metabolic process|signal transduction|skeletal system development					NS(1)|endometrium(1)|kidney(1)|large_intestine(2)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			ATTCGAGACCGGAGCACCAGT	0.602		NA											False	0	False	17:38609333	0
MARS2	92935	broad.mit.edu	37	2	198571112	198571112	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr2:198571112G>A	ENST00000282276.6	+	1	1026	c.983G>A	c.(982-984)gGc>gAc	p.G328D	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	328					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity	p.G328D(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	TTAGGGGCCGGCATGAGCCCG	0.542		NA											False	0	False	2:198571112	0
GSG1	83445	broad.mit.edu	37	12	13240148	13240148	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr12:13240148C>T	ENST00000396302.3	-	5	898	c.700G>A	c.(700-702)Gac>Aac	p.D234N	GSG1_ENST00000324458.8_Silent_p.A228A|GSG1_ENST00000396310.2_Silent_p.A161A|GSG1_ENST00000432710.2_Silent_p.A205A|GSG1_ENST00000537302.1_Silent_p.A164A|GSG1_ENST00000337630.6_Silent_p.A192A|GSG1_ENST00000351606.6_Missense_Mutation_p.D270N|GSG1_ENST00000457134.2_Silent_p.A141A	NM_031289.3	NP_112579.2	Q2KHT4	GSG1_HUMAN	germ cell associated 1	0						endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		AGTTGACAGTCGCTTGGAAGA	0.507		NA											False	0	False	12:13240148	0
ZNF407	55628	broad.mit.edu	37	18	72347372	72347372	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr18:72347372C>T	ENST00000299687.5	+	1	4397	c.4397C>T	c.(4396-4398)gCc>gTc	p.A1466V	ZNF407_ENST00000309902.6_Missense_Mutation_p.A1466V|ZNF407_ENST00000582337.1_Missense_Mutation_p.A1466V|ZNF407_ENST00000577538.1_Missense_Mutation_p.A1466V	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CTGGCTAGTGCCGGCCACATG	0.498		NA											False	0	False	18:72347372	0
TRPV6	55503	broad.mit.edu	37	7	142572369	142572369	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr7:142572369G>A	ENST00000359396.3	-	11	1572	c.1327C>T	c.(1327-1329)Cgg>Tgg	p.R443W		NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	443					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CTGATGAGCCGCATCACCATG	0.607		NA											False	0	False	7:142572369	0
RP11-3P17.4	0	broad.mit.edu	37	3	161147009	161147009	+	RNA	SNP	A	A	G			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr3:161147009A>G	ENST00000473595.1	+	0	1231				RP11-3P17.5_ENST00000602890.1_lincRNA	NR_102265.1					NA											NA						CCGAATCAGGATGTTGACCTT	0.438		NA											False	0	False	3:161147009	0
SEC16A	9919	broad.mit.edu	37	9	139360714	139360714	+	Splice_Site	SNP	A	A	G			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr9:139360714A>G	ENST00000313050.7	-	5	4202		c.e5+1		SEC16A_ENST00000431893.2_Splice_Site|SEC16A_ENST00000371706.3_Splice_Site|SEC16A_ENST00000290037.6_Splice_Site	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	NA					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GCCGCCGCGTACCTGGTGCGA	0.622		NA											False	0	False	9:139360714	0
CD55	1604	broad.mit.edu	37	1	207532957	207532957	+	Silent	SNP	C	C	A	rs56147367		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:207532957C>A	ENST00000314754.8	+	11	1331	c.1266C>A	c.(1264-1266)gcC>gcA	p.A422A	CD55_ENST00000465534.1_3'UTR|CD55_ENST00000367062.4_3'UTR|CD55_ENST00000367064.3_3'UTR|CD55_ENST00000391921.4_3'UTR|CD55_ENST00000367067.4_3'UTR|CD55_ENST00000367065.5_Silent_p.A421A|CD55_ENST00000391920.4_3'UTR	NM_001114752.1	NP_001108224.1	P08174	DAF_HUMAN	CD55 molecule, decay accelerating factor for complement (Cromer blood group)	0					complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	CTGACTTAGCCAAAGAAGAGT	0.348		NA											False	0	True	1:207532957	0
STRADB	55437	broad.mit.edu	37	2	202337718	202337718	+	Silent	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr2:202337718G>A	ENST00000194530.3	+	5	599	c.234G>A	c.(232-234)cgG>cgA	p.R78R	STRADB_ENST00000392249.2_Silent_p.R78R	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	78	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity	p.R78R(2)		breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						ATCTTGCACGGCATACTCCCA	0.353		NA											False	0	False	2:202337718	0
MDN1	23195	broad.mit.edu	37	6	90421896	90421896	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr6:90421896C>T	ENST00000369393.3	-	49	7625	c.7510G>A	c.(7510-7512)Gaa>Aaa	p.E2504K	MDN1_ENST00000428876.1_Missense_Mutation_p.E2504K			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2504					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	p.E2504K(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GTATTCACTTCGACTGCATTG	0.408		NA											False	0	False	6:90421896	0
TNR	7143	broad.mit.edu	37	1	175331865	175331865	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:175331865C>T	ENST00000367674.2	-	14	3496	c.2788G>A	c.(2788-2790)Gaa>Aaa	p.E930K	TNR_ENST00000263525.2_Missense_Mutation_p.E930K			Q92752	TENR_HUMAN	tenascin R	NA	Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.E930K(2)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AGGCTGATTTCGTATTCGGTA	0.532		NA											False	0	True	1:175331865	0
MLK4	0	broad.mit.edu	37	1	233511709	233511709	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:233511709C>T	ENST00000366624.3	+	7	1984	c.1723C>T	c.(1723-1725)Cga>Tga	p.R575*	MLK4_ENST00000366622.1_Nonsense_Mutation_p.R21*	NM_032435.2	NP_115811.2				NA								p.R575*(3)			NA						CACAGTCTTTCGACAAGAAGA	0.318		NA											False	0	True	1:233511709	0
SRCAP	10847	broad.mit.edu	37	16	30723277	30723277	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr16:30723277C>G	ENST00000262518.4	+	12	1999	c.1614C>G	c.(1612-1614)agC>agG	p.S538R	SRCAP_ENST00000344771.4_Missense_Mutation_p.S538R|SRCAP_ENST00000395059.2_Missense_Mutation_p.S538R	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	538	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AATCACAGAGCCAAGCAGATG	0.498		NA											False	0	False	16:30723277	0
TENM2	57451	broad.mit.edu	37	5	167182058	167182058	+	Translation_Start_Site	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr5:167182058G>A	ENST00000519204.1	+	0	118				TENM2_ENST00000545108.1_Intron|TENM2_ENST00000518659.1_Intron|TENM2_ENST00000520393.1_Intron|TENM2_ENST00000520394.1_De_novo_Start_InFrame					teneurin transmembrane protein 2	NA											NA						AGCTTACGCCGATGGTGAGCC	0.532		NA											False	0	False	5:167182058	0
ATP8B4	79895	broad.mit.edu	37	15	50223420	50223420	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr15:50223420C>T	ENST00000284509.6	-	16	1679	c.1538G>A	c.(1537-1539)cGg>cAg	p.R513Q	ATP8B4_ENST00000559829.1_Missense_Mutation_p.R513Q	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	513					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CTCTGGGGTCCGGGATTTAAA	0.398		NA											False	0	True	15:50223420	0
DNAH2	146754	broad.mit.edu	37	17	7696378	7696378	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr17:7696378G>A	ENST00000572933.1	+	48	8884	c.7424G>A	c.(7423-7425)gGc>gAc	p.G2475D	DNAH2_ENST00000389173.2_Missense_Mutation_p.G2475D			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2475	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.G2475D(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCATTCGGGGGCAAAAGCATG	0.512		NA											False	0	True	17:7696378	0
OGDHL	55753	broad.mit.edu	37	10	50946068	50946068	+	Silent	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr10:50946068G>A	ENST00000374103.4	-	19	2527	c.2442C>T	c.(2440-2442)atC>atT	p.I814I	OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000419399.1_Silent_p.I757I|OGDHL_ENST00000432695.1_Silent_p.I605I	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	814					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						AGTTGACCACGATCCAGTTGC	0.622		NA											False	0	False	10:50946068	0
OR52M1	119772	broad.mit.edu	37	11	4566499	4566499	+	Missense_Mutation	SNP	G	G	A	rs138278883		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr11:4566499G>A	ENST00000360213.1	+	1	79	c.79G>A	c.(79-81)Gtc>Atc	p.V27I		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTCCCTACACGTCTGGCTCTC	0.542		NA											False	0	False	11:4566499	0
SPTLC1	10558	broad.mit.edu	37	9	94794825	94794825	+	Silent	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr9:94794825G>A	ENST00000262554.2	-	15	1349	c.1344C>T	c.(1342-1344)gtC>gtT	p.V448V		NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	448						integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GTTCCACCGTGACCACAACCC	0.567		NA											False	0	False	9:94794825	0
STOX2	56977	broad.mit.edu	37	4	184931519	184931519	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr4:184931519G>A	ENST00000308497.4	+	3	2963	c.1528G>A	c.(1528-1530)Gaa>Aaa	p.E510K	STOX2_ENST00000438269.1_Missense_Mutation_p.E510K	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	510					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		AGGGACGCCGGAAGACCTTGC	0.547		NA											False	0	False	4:184931519	0
KBTBD6	89890	broad.mit.edu	37	13	41705440	41705440	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr13:41705440G>T	ENST00000379485.1	-	1	1442	c.1208C>A	c.(1207-1209)aCa>aAa	p.T403K	KBTBD6_ENST00000499385.2_Missense_Mutation_p.T337K	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	403							protein binding	p.T403K(7)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CCAGAGGTCTGTCCTGGGCTG	0.507		NA											False	0	False	13:41705440	0
CSF2RA	0	broad.mit.edu	37	X	1422850	1422850	+	Silent	SNP	T	T	C			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chrX:1422850T>C	ENST00000381524.3	+	11	1167	c.981T>C	c.(979-981)atT>atC	p.I327I	CSF2RA_ENST00000381529.3_Silent_p.I327I|CSF2RA_ENST00000355432.3_Intron|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000417535.2_Silent_p.I361I|CSF2RA_ENST00000381500.1_Intron|CSF2RA_ENST00000361536.3_Intron|CSF2RA_ENST00000432318.2_Silent_p.I327I|CSF2RA_ENST00000501036.2_Silent_p.I194I|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000381509.3_Silent_p.I327I|CSF2RA_ENST00000498153.1_3'UTR			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	327						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CTGTGTACATTTATGTGCTCC	0.498		NA											False	0	True	X:1422850	0
EMR1	2015	broad.mit.edu	37	19	6926610	6926610	+	Silent	SNP	T	T	C			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr19:6926610T>C	ENST00000312053.4	+	16	2257	c.2220T>C	c.(2218-2220)aaT>aaC	p.N740N	EMR1_ENST00000381404.4_Silent_p.N688N|EMR1_ENST00000450315.3_Silent_p.N563N|EMR1_ENST00000381407.5_Silent_p.N599N|EMR1_ENST00000250572.8_Silent_p.N675N	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	740					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					GAATGCATAATCGGTGAGTGA	0.502		NA											False	0	False	19:6926610	0
JUNB	3726	broad.mit.edu	37	19	12902601	12902601	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr19:12902601G>T	ENST00000302754.4	+	1	292	c.16G>T	c.(16-18)Gaa>Taa	p.E6*		NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN	jun B proto-oncogene	6						chromatin|nucleus	protein dimerization activity|transcription coactivator activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						CACTAAAATGGAACAGCCCTT	0.662		NA											False	0	False	19:12902601	0
HAPLN1	1404	broad.mit.edu	37	5	82940318	82940318	+	Silent	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr5:82940318G>A	ENST00000274341.4	-	4	1489	c.639C>T	c.(637-639)ggC>ggT	p.G213G		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	213	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		ATTGCACAGAGCCATCACTGA	0.587		NA											False	0	False	5:82940318	0
KMT2D	8085	broad.mit.edu	37	12	49416473	49416473	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr12:49416473G>A	ENST00000301067.7	-	51	16237	c.16238C>T	c.(16237-16239)gCa>gTa	p.A5413V		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D	NA											NA						GTCCTTGGCTGCATAGAGCCC	0.552		NA											False	0	False	12:49416473	0
FASTKD1	79675	broad.mit.edu	37	2	170428438	170428438	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr2:170428438G>C	ENST00000453153.2	-	2	448	c.102C>G	c.(100-102)atC>atG	p.I34M	FASTKD1_ENST00000453929.2_Missense_Mutation_p.I34M	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	34					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						GTTCACAACTGATGGGTCGAA	0.358		NA											False	0	False	2:170428438	0
CRKL	1399	broad.mit.edu	37	22	21288172	21288172	+	Silent	SNP	C	C	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr22:21288172C>A	ENST00000354336.3	+	2	926	c.417C>A	c.(415-417)gcC>gcA	p.A139A		NM_005207.3	NP_005198.1	P46109	CRKL_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog-like	139	SH3 1.				JNK cascade|Ras protein signal transduction	cytosol	protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)			GGAATGATGCCGAAGACCTGC	0.502		NA											False	0	False	22:21288172	0
TJP1	7082	broad.mit.edu	37	15	30020212	30020212	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr15:30020212G>A	ENST00000346128.6	-	16	2503	c.2029C>T	c.(2029-2031)Cga>Tga	p.R677*	TJP1_ENST00000356107.6_Nonsense_Mutation_p.R677*|TJP1_ENST00000545208.2_Nonsense_Mutation_p.R677*|TJP1_ENST00000400011.2_Nonsense_Mutation_p.R681*	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	677	Guanylate kinase-like.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CCAGCGTCTCGTGGTTCACTC	0.393		NA											False	0	False	15:30020212	0
DLG4	1742	broad.mit.edu	37	17	7099798	7099798	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr17:7099798G>C	ENST00000399510.2	-	12	2161	c.1309C>G	c.(1309-1311)Cca>Gca	p.P437A	DLG4_ENST00000302955.6_Missense_Mutation_p.P391A|DLG4_ENST00000399506.2_Missense_Mutation_p.P394A	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	394	SH3.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						GTACCTTCTGGTTTATACTGA	0.547		NA											False	0	True	17:7099798	0
IL23R	149233	broad.mit.edu	37	1	67724439	67724439	+	Silent	SNP	C	C	G			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:67724439C>G	ENST00000347310.5	+	11	1689	c.1518C>G	c.(1516-1518)tcC>tcG	p.S506S	IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000395227.1_Silent_p.S251S|IL23R_ENST00000371002.1_3'UTR	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	506					inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						AAATTACTTCCTTAACACTTA	0.353		NA											False	0	False	1:67724439	0
STOX2	56977	broad.mit.edu	37	4	184932370	184932370	+	Silent	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr4:184932370G>A	ENST00000308497.4	+	3	3814	c.2379G>A	c.(2377-2379)gaG>gaA	p.E793E	STOX2_ENST00000438269.1_Silent_p.E793E	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	793					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CAGAGGAGGAGAAAAATAGAG	0.498		NA											False	0	True	4:184932370	0
KCNA4	3739	broad.mit.edu	37	11	30033513	30033513	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr11:30033513C>T	ENST00000328224.6	-	2	1946	c.713G>A	c.(712-714)gGa>gAa	p.G238E		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	238						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CAGGCGGCCTCCTGATTGATA	0.483		NA											False	0	False	11:30033513	0
KCNA1	3736	broad.mit.edu	37	12	5021099	5021099	+	Silent	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr12:5021099C>T	ENST00000382545.3	+	2	1662	c.555C>T	c.(553-555)tgC>tgT	p.C185C	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	185					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TCATCTTTTGCCTGGAGACGC	0.582		NA											False	0	False	12:5021099	0
EVPL	2125	broad.mit.edu	37	17	74014618	74014618	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr17:74014618C>T	ENST00000301607.3	-	12	1601	c.1348G>A	c.(1348-1350)Gtg>Atg	p.V450M	EVPL_ENST00000586740.1_Missense_Mutation_p.V450M	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	450	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGGCCCTGCACGACCCAGGCG	0.662		NA											False	0	False	17:74014618	0
MUC17	140453	broad.mit.edu	37	7	100692136	100692136	+	Silent	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr7:100692136G>A	ENST00000306151.4	+	5	12610	c.12546G>A	c.(12544-12546)gaG>gaA	p.E4182E		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4182	SEA.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGCCACCGGAGACTATCTCTG	0.522		NA											False	0	False	7:100692136	0
ADCY3	109	broad.mit.edu	37	2	25051001	25051001	+	Silent	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr2:25051001G>A	ENST00000260600.5	-	13	3053	c.2202C>T	c.(2200-2202)ccC>ccT	p.P734P	ADCY3_ENST00000450524.1_5'UTR|ADCY3_ENST00000405392.1_Intron	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	734					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TTGCATTGCTGGGTCCCGTGT	0.602		NA									OREG0014498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	2:25051001	0
F5	2153	broad.mit.edu	37	1	169529961	169529961	+	Silent	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:169529961G>A	ENST00000367796.3	-	4	618	c.417C>T	c.(415-417)gaC>gaT	p.D139D	F5_ENST00000546081.1_Silent_p.D2D|F5_ENST00000367797.3_Silent_p.D139D			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	139	F5/8 type A 1.|Plastocyanin-like 1.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CCACAGCGTCGTCCATCTTCT	0.517		NA											False	0	False	1:169529961	0
GSDMD	79792	broad.mit.edu	37	8	144645015	144645015	+	Missense_Mutation	SNP	A	A	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr8:144645015A>T	ENST00000526406.1	+	14	2279	c.1396A>T	c.(1396-1398)Atg>Ttg	p.M466L	GSDMD_ENST00000533063.1_Missense_Mutation_p.M514L|GSDMD_ENST00000262580.4_Missense_Mutation_p.M466L	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	466				SGMLVPELAIPVVYLLGALTMLSETQHKLLAEALESQTLLG PLELVGSLLEQSAPWQERSTMSLPPGLLGNSWGEGAPAWVL LDECGLELGEDTPHVCWEPQAQGRMCALYASLALLSGLSQE P -> PECWCRNSLSLLSTCWG (in Ref. 1; AAG22861).						breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						CCAGGGCCGCATGTGTGCACT	0.687		NA											False	0	True	8:144645015	0
RPA1	6117	broad.mit.edu	37	17	1792037	1792037	+	Silent	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr17:1792037C>T	ENST00000254719.5	+	14	1553	c.1443C>T	c.(1441-1443)tgC>tgT	p.C481C		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	481					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						ACCAAGCCTGCCCGACTCAGG	0.483		NA						Nucleotide excision repair (NER)					False	0	True	17:1792037	0
OR2M4	26245	broad.mit.edu	37	1	248402643	248402643	+	Missense_Mutation	SNP	C	C	T	rs144805988		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:248402643C>T	ENST00000306687.1	+	1	413	c.413C>T	c.(412-414)cCg>cTg	p.P138L		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P138L(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTCATGAATCCGAAACTCTGT	0.483		NA											False	0	False	1:248402643	0
MAPT	4137	broad.mit.edu	37	17	44060812	44060812	+	Silent	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr17:44060812C>T	ENST00000344290.5	+	6	964	c.642C>T	c.(640-642)agC>agT	p.S214S	MAPT_ENST00000334239.8_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000571987.1_Silent_p.S214S|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000415613.2_Silent_p.S214S|MAPT_ENST00000262410.5_Silent_p.S214S|MAPT_ENST00000431008.3_Intron	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	214					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				GGCCGGGGAGCAAGGAGGAGG	0.687		NA											False	0	False	17:44060812	0
HERC2P3	0	broad.mit.edu	37	15	20644850	20644850	+	RNA	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr15:20644850G>A	ENST00000428453.1	-	0	3097										NA								p.A803V(4)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CATGTCCCTCGCCCTTTCGGT	0.463		NA											False	0	True	15:20644850	0
DDHD2	23259	broad.mit.edu	37	8	38107250	38107250	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr8:38107250C>G	ENST00000397166.2	+	11	1798	c.1273C>G	c.(1273-1275)Cag>Gag	p.Q425E	DDHD2_ENST00000517385.1_Missense_Mutation_p.Q44E|DDHD2_ENST00000528888.1_3'UTR|DDHD2_ENST00000520272.2_Missense_Mutation_p.Q425E	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	425	SAM.				lipid catabolic process	centrosome	hydrolase activity|metal ion binding	p.Q425K(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			CCGAGATCTTCAGGAAATAGG	0.368		NA											False	0	False	8:38107250	0
PTCHD2	57540	broad.mit.edu	37	1	11561268	11561268	+	Missense_Mutation	SNP	T	T	G			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:11561268T>G	ENST00000294484.6	+	2	357	c.219T>G	c.(217-219)tgT>tgG	p.C73W	PTCHD2_ENST00000389575.3_Missense_Mutation_p.C73W	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	73					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		ATCCGTGCTGTGCTGGGCTGG	0.627		NA											False	0	True	1:11561268	0
SMAD4	4089	broad.mit.edu	37	18	48584787	48584787	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr18:48584787C>T	ENST00000342988.3	+	7	1403	c.865C>T	c.(865-867)Cag>Tag	p.Q289*	SMAD4_ENST00000588745.1_Intron|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.Q289*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	289	SAD.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)|p.Q289*(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CGGCCATCTTCAGCACCACCC	0.463		NA											False	0	False	18:48584787	0
RANBP2	5903	broad.mit.edu	37	2	109367844	109367844	+	Missense_Mutation	SNP	T	T	G			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr2:109367844T>G	ENST00000283195.6	+	10	1524	c.1398T>G	c.(1396-1398)caT>caG	p.H466Q		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	466					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	p.H466Q(6)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTTGCCCCATGAAACCTCAA	0.358		NA											False	0	False	2:109367844	0
NUP50	10762	broad.mit.edu	37	22	45580351	45580351	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr22:45580351G>A	ENST00000347635.4	+	8	1688	c.1222G>A	c.(1222-1224)Gtt>Att	p.V408I	NUP50_ENST00000407019.2_Missense_Mutation_p.V380I|NUP50_ENST00000425733.2_Missense_Mutation_p.V158I|NUP50_ENST00000396096.2_Missense_Mutation_p.V380I	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa	NA	RanBD1.				carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore|nucleoplasm	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		ATTGCTGAACGTTCTGATTCC	0.393		NA											False	0	False	22:45580351	0
KRBA1	84626	broad.mit.edu	37	7	149431136	149431136	+	Nonstop_Mutation	SNP	A	A	G			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr7:149431136A>G	ENST00000255992.10	+	18	3489	c.3090A>G	c.(3088-3090)tgA>tgG	p.*1030W	KRBA1_ENST00000319551.8_Nonstop_Mutation_p.*970W|KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000485033.2_Nonstop_Mutation_p.*970W	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	0										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGGCGCATTGATGGCATTCCT	0.662		NA											False	0	False	7:149431136	0
RRN3P2	0	broad.mit.edu	37	16	29110438	29110438	+	RNA	SNP	T	T	C			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr16:29110438T>C	ENST00000564580.1	+	0	1111										NA								p.L368P(6)			NA						TTGCAGTATCTTCAGAGTCTG	0.328		NA											False	0	False	16:29110438	0
LATS2	26524	broad.mit.edu	37	13	21562295	21562295	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr13:21562295G>T	ENST00000382592.4	-	4	2029	c.1624C>A	c.(1624-1626)Cag>Aag	p.Q542K	LATS2_ENST00000542899.1_Missense_Mutation_p.Q542K	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	542					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CGGAGGCTCTGCTCCATGCCT	0.657		NA											False	0	False	13:21562295	0
MFHAS1	9258	broad.mit.edu	37	8	8748773	8748773	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr8:8748773G>A	ENST00000276282.6	-	1	2382	c.1796C>T	c.(1795-1797)tCg>tTg	p.S599L		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	599	Roc.									endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		GTTCTTGTCCGAAACGCCATA	0.642		NA											False	0	True	8:8748773	0
TP53	7157	broad.mit.edu	37	17	7578433	7578433	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr17:7578433G>T	ENST00000420246.2	-	5	629	c.497C>A	c.(496-498)tCa>tAa	p.S166*	TP53_ENST00000455263.2_Nonsense_Mutation_p.S166*|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Nonsense_Mutation_p.S166*|TP53_ENST00000413465.2_Nonsense_Mutation_p.S166*|TP53_ENST00000359597.4_Nonsense_Mutation_p.S166*|TP53_ENST00000269305.4_Nonsense_Mutation_p.S166*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	166	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		S -> A (in sporadic cancers; somatic mutation).|S -> G (in a sporadic cancer; somatic mutation).|S -> L (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S166*(25)|p.0?(8)|p.S166L(4)|p.Q167fs*14(4)|p.S34*(2)|p.S73*(2)|p.K164fs*3(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.P151_V173del23(1)|p.Q165_S166insYKQ(1)|p.Q165_M169delQSQHM(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.S166G(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CATGTGCTGTGACTGCTTGTA	0.632		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			False	0	False	17:7578433	0
ATP2B2	491	broad.mit.edu	37	3	10443850	10443850	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr3:10443850C>T	ENST00000397077.1	-	6	1155	c.580G>A	c.(580-582)Gtg>Atg	p.V194M	ATP2B2_ENST00000383800.4_Missense_Mutation_p.V194M|ATP2B2_ENST00000352432.4_Missense_Mutation_p.V194M|ATP2B2_ENST00000360273.2_Missense_Mutation_p.V194M|ATP2B2_ENST00000343816.4_Missense_Mutation_p.V194M			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	194					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GCCCGGACCACGGTAAATTTC	0.567		NA											False	0	False	3:10443850	0
GPR133	283383	broad.mit.edu	37	12	131471825	131471825	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr12:131471825G>T	ENST00000261654.5	+	6	1235	c.676G>T	c.(676-678)Gat>Tat	p.D226Y	GPR133_ENST00000535015.1_Missense_Mutation_p.D258Y	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	226					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CGGTGCTTTCGATGAGTTCAT	0.542		NA											False	0	False	12:131471825	0
SDK1	221935	broad.mit.edu	37	7	4259748	4259748	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr7:4259748C>G	ENST00000404826.2	+	39	5686	c.5547C>G	c.(5545-5547)agC>agG	p.S1849R	SDK1_ENST00000389531.3_Missense_Mutation_p.S1829R	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1849	Fibronectin type-III 12.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CAGGGGTGAGCAAGGTGGTGA	0.572		NA											False	0	False	7:4259748	0
LIN54	132660	broad.mit.edu	37	4	83891489	83891489	+	Silent	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr4:83891489C>T	ENST00000340417.3	-	4	1319	c.942G>A	c.(940-942)tcG>tcA	p.S314S	LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000442461.2_Silent_p.S93S|LIN54_ENST00000510557.1_Silent_p.S93S|LIN54_ENST00000506560.1_Intron|LIN54_ENST00000395283.2_Intron|LIN54_ENST00000505397.1_Silent_p.S314S|LIN54_ENST00000446851.2_Silent_p.S93S	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 homolog (C. elegans)	314					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				CCTTATTTGGCGATTTCAAAG	0.308		NA											False	0	False	4:83891489	0
GMDS	2762	broad.mit.edu	37	6	2116094	2116094	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr6:2116094C>T	ENST00000380815.4	-	4	525	c.256G>A	c.(256-258)Gat>Aat	p.D86N	GMDS_ENST00000530927.1_Missense_Mutation_p.D56N	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	86					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TCAGTGAGATCGCCATAGTGC	0.383		NA											False	0	False	6:2116094	0
CD38	952	broad.mit.edu	37	4	15835859	15835859	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr4:15835859C>G	ENST00000226279.3	+	4	656	c.519C>G	c.(517-519)tgC>tgG	p.C173W		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	NA					B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						ATCAATCTTGCCCAGACTGGA	0.398		NA											False	0	True	4:15835859	0
HNRNPA1	3178	broad.mit.edu	37	12	54675182	54675182	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr12:54675182C>T	ENST00000546500.1	+	2	643	c.28C>T	c.(28-30)Ccc>Tcc	p.P10S	HNRNPA1_ENST00000547276.1_Missense_Mutation_p.P10S|RP11-968A15.8_ENST00000553061.1_RNA|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.P10S|HNRNPA1_ENST00000340913.6_Missense_Mutation_p.P10S			P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	10	Globular A domain.				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						TCCTAAAGAGCCCGAACAGCT	0.488		NA											False	0	True	12:54675182	0
RAG1	5896	broad.mit.edu	37	11	36595189	36595189	+	Missense_Mutation	SNP	G	G	A	rs4151026		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr11:36595189G>A	ENST00000299440.5	+	2	447	c.335G>A	c.(334-336)cGc>cAc	p.R112H		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	112	Interaction with importin alpha-1.				histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.R112L(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CATCTCTGCCGCATCTGTGGG	0.453		NA							Familial Hemophagocytic Lymphohistiocytosis				False	0	False	11:36595189	0
NWD1	284434	broad.mit.edu	37	19	16910925	16910925	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr19:16910925C>T	ENST00000524140.2	+	17	4106	c.3688C>T	c.(3688-3690)Ccc>Tcc	p.P1230S	NWD1_ENST00000552788.1_Missense_Mutation_p.P1230S|NWD1_ENST00000379808.3_Missense_Mutation_p.P1230S|NWD1_ENST00000339803.6_Missense_Mutation_p.P1095S|NWD1_ENST00000523826.1_Missense_Mutation_p.P1024S|NWD1_ENST00000549814.1_Missense_Mutation_p.P1188S	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1230							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CGTCTACTTCCCCAAAATTGG	0.512		NA											False	0	True	19:16910925	0
PHEX	5251	broad.mit.edu	37	X	22117217	22117217	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chrX:22117217G>A	ENST00000379374.4	+	9	1592	c.1027G>A	c.(1027-1029)Gtc>Atc	p.V343I	PHEX_ENST00000418858.3_Missense_Mutation_p.V46I|PHEX_ENST00000475778.1_3'UTR|PHEX_ENST00000535894.1_Missense_Mutation_p.V246I|PHEX_ENST00000537599.1_Missense_Mutation_p.V343I	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	343					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						GGTGGTCCGCGTCCCGCAGTA	0.443		NA											False	0	False	X:22117217	0
ZFHX4	79776	broad.mit.edu	37	8	77763870	77763870	+	Missense_Mutation	SNP	A	A	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr8:77763870A>T	ENST00000521891.2	+	10	5161	c.4713A>T	c.(4711-4713)aaA>aaT	p.K1571N	ZFHX4_ENST00000050961.6_Missense_Mutation_p.K1526N|ZFHX4_ENST00000518282.1_Missense_Mutation_p.K1545N|ZFHX4_ENST00000455469.2_Missense_Mutation_p.K1526N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1526						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGCTGAAAAAAGTTTTGCAGG	0.413		NA								HNSCC(33;0.089)			False	0	True	8:77763870	0
PCDHB7	0	broad.mit.edu	37	5	140554386	140554386	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr5:140554386C>T	ENST00000231137.3	+	1	2144	c.1970C>T	c.(1969-1971)aCg>aTg	p.T657M		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		657	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T657M(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCACCGCCACGCTGCACGTG	0.706		NA											False	0	False	5:140554386	0
SPARCL1	8404	broad.mit.edu	37	4	88412840	88412840	+	Silent	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr4:88412840G>A	ENST00000418378.1	-	6	1792	c.1221C>T	c.(1219-1221)gcC>gcT	p.A407A	SPARCL1_ENST00000503414.1_Silent_p.A282A|SPARCL1_ENST00000282470.6_Silent_p.A407A	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	407					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		CTGCTTTCTTGGCCTTTAGAA	0.393		NA											False	0	False	4:88412840	0
PHB	5245	broad.mit.edu	37	17	47482526	47482526	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr17:47482526C>T	ENST00000300408.3	-	7	719	c.647G>A	c.(646-648)gGc>gAc	p.G216D	RP11-1079K10.4_ENST00000506504.3_RNA|RP11-81K2.1_ENST00000576461.1_Intron|PHB_ENST00000511832.1_Intron	NM_001281496.1|NM_001281715.1|NM_002634.2	NP_001268425.1|NP_001268644.1|NP_002625.1	P35232	PHB_HUMAN	prohibitin	216					cellular response to interleukin-6|DNA replication|glucocorticoid receptor signaling pathway|histone deacetylation|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|progesterone receptor signaling pathway|regulation of apoptosis	integral to plasma membrane|mitochondrial inner membrane|nucleoplasm	histone deacetylase binding|transcription regulatory region DNA binding			endometrium(4)|large_intestine(2)|lung(4)	10	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)			CTTGGAGTCGCCCTCAGCAGA	0.562		NA											False	0	True	17:47482526	0
UMOD	7369	broad.mit.edu	37	16	20355441	20355441	+	Silent	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr16:20355441G>A	ENST00000396134.2	-	7	1458	c.1335C>T	c.(1333-1335)atC>atT	p.I445I	UMOD_ENST00000570689.1_Silent_p.I412I|UMOD_ENST00000424589.1_Silent_p.I445I|UMOD_ENST00000396138.4_Silent_p.I461I|UMOD_ENST00000302509.4_Silent_p.I412I|UMOD_ENST00000396142.2_Silent_p.I412I	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	412	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CACGGATGATGATCTCATCTG	0.537		NA											False	0	True	16:20355441	0
OBSCN	84033	broad.mit.edu	37	1	228525760	228525760	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:228525760G>A	ENST00000570156.2	+	78	19861	c.19787G>A	c.(19786-19788)cGc>cAc	p.R6596H	OBSCN_ENST00000366707.4_Missense_Mutation_p.R3273H|OBSCN_ENST00000284548.11_Missense_Mutation_p.R5639H|OBSCN_ENST00000366709.4_Missense_Mutation_p.R2758H|OBSCN_ENST00000422127.1_Missense_Mutation_p.R5639H	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5639	Protein kinase 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CACCCACTGCGCTGGCTTGTC	0.642		NA											False	0	False	1:228525760	0
HSPA8	3312	broad.mit.edu	37	11	122929855	122929855	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr11:122929855A>G	ENST00000534624.1	-	6	1511	c.1235T>C	c.(1234-1236)gTc>gCc	p.V412A	HSPA8_ENST00000533540.1_Missense_Mutation_p.V266A|HSPA8_ENST00000526110.1_Missense_Mutation_p.V393A|HSPA8_ENST00000534319.1_Missense_Mutation_p.V176A|HSPA8_ENST00000532636.1_Missense_Mutation_p.V412A|HSPA8_ENST00000227378.3_Missense_Mutation_p.V412A|HSPA8_ENST00000453788.2_Missense_Mutation_p.V412A	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	412					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CTTGATGAGGACAGTCATGAC	0.453		NA											False	0	False	11:122929855	0
