Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
COL6A1_chr21_45976770_46010048	45988167	G G	GTCCAGAT others(40): Show GTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0122 a0002c0002t0009g0122	1	105	0.0095	47	c.804 others(62): Show c.804+530_804+531insGCGGGGTCCAGATGGAGGGGACGTCGGGGC TCCAGATGGAGGGGACG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46134801	46133597	A A	AAGCTCAC others(40): Show AAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCCGGGATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0314 a0001c0002t0002g0314	1	358	0.0028	47	c.41 others(58): Show c.4106_*4107insAGCTCACCCGAGTCACACTGGACCAGGGCTCAGC CTATTCCGGGATG	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		3797		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46133686	A A	AGGATGAG others(40): Show AGGATGAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0009 a0009	a0009c0032 a0009c0032	a0009c0032t0006 a0009c0032t0006	a0009c0032t0006g0226 a0009c0032t0006g0226	1	358	0.0028	47	c.41 others(58): Show c.4195_*4196insGGATGAGCTCACCCGAGTCACACTGGACCAGGGC TCAGCCTATTCCG	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		3886		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46133827	G G	GGGATGAG others(40): Show GGGATGAGCTCACCCGAGTCACACTGGGCCAGGGCTCAGCCTATTCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0011 a0003c0004t0011	a0003c0004t0011g0190 a0003c0004t0011g0190	1	363	0.0028	47	c.43 others(58): Show c.4336_*4337insGGATGAGCTCACCCGAGTCACACTGGGCCAGGGC TCAGCCTATTCTA	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4027		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46133597	A A	AAGCTCAC others(40): Show AAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCCGGGATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0313 a0001c0002t0013g0313	1	351	0.0028	47	c.10 others(58): Show c.1045_*1046insAGCTCACCCGAGTCACACTGGACCAGGGCTCAGC CTATTCCGGGATG	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		750		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46133686	A A	AGGATGAG others(40): Show AGGATGAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0012 a0012	a0012c0051 a0012c0051	a0012c0051t0001 a0012c0051t0001	a0012c0051t0001g0224 a0012c0051t0001g0224	1	351	0.0028	47	c.11 others(58): Show c.1134_*1135insGGATGAGCTCACCCGAGTCACACTGGACCAGGGC TCAGCCTATTCCG	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		839		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46133827	G G	GGGATGAG others(40): Show GGGATGAGCTCACCCGAGTCACACTGGGCCAGGGCTCAGCCTATTCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0001 a0003c0010t0001	a0003c0010t0001g0188 a0003c0010t0001g0188	1	355	0.0028	47	c.12 others(58): Show c.1275_*1276insGGATGAGCTCACCCGAGTCACACTGGGCCAGGGC TCAGCCTATTCTA	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		980		chr21	TogoVar
COL8A1_chr3_99633594_99804217	99773838	T T	TATTATAT others(40): Show TATTATATATATATATATATATATATTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0222 a0001c0001t0009g0222	1	237	0.0042	47	c.-3- others(64): Show c.-3-16842_-3-16841insATTATATATATATATATATATATATTAT ATATATATATATATATATA	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3			chr3	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(40): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0079 a0004c0004t0003g0079	1	129	0.0078	47	c.-11 others(58): Show c.-1118_-1117insAAAAAAAAAAAAAAAAAAATATATATATATATAT ATATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(40): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG02280.hp2 HG04228.hp1 others(1): Show HG01074.hp1 HG02280.hp2 HG04228.hp1 NA18949.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0001c0005 a0004c0004 a0001c0002 a0001c0005 a0004c0004	a0001c0002t0001 a0001c0005t0001 a0004c0004t0003 a0001c0002t0001 a0001c0005t0001 a0004c0004t0003	a0001c0002t0001g0007 a0001c0002t0001g0047 a0001c0005t0001g0005 others(1): Show a0001c0002t0001g0007 a0001c0002t0001g0047 a0001c0005t0001g0005 a0004c0004t0003g0019	4	132	0.0303	47	c.-11 others(58): Show c.-1118_-1117insAAAAAAAAAAAAAAAAAAAAATATATATATATAT ATATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A3_chr20_62812050_62846159	62825130	A A	AGGGAGGG others(40): Show AGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG04199.hp2 NA18986.hp2 HG02683.hp2 HG04199.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0002t0001g0217 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0002t0001g0217	3	222	0.0135	47	c.630 others(62): Show c.630+132_630+133insGGGGAGGGGCTGGGCTCCGGCGGGGGGAGG GGCTGGGCTCCGGCGGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COPE_chr19_18894514_18924387	18902813	G G	GAAGAAAG others(40): Show GAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02886.hp2 NA19240.hp1 HG02723.hp2 HG02886.hp2 NA19240.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0018 a0003c0004t0001g0281 a0003c0004t0001g0018 a0003c0004t0001g0281	3	313	0.0096	47	c.735 others(62): Show c.735+454_735+455insTCTTTCTTTCTCTTTCTTTCTTTCTTTCCT TTCTTTCTTTCTTTCTT	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9			chr19	TogoVar
COPE_chr19_18894514_18924387	18902825	G G	GAAGGAAA others(40): Show GAAGGAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0038 a0004c0006t0001g0038	1	146	0.0068	47	c.735 others(62): Show c.735+442_735+443insTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TCTTTCTTTCTTTCCTT	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9			chr19	TogoVar
COPE_chr19_18894514_18924387	18902825	G G	GAAGGAAG others(40): Show GAAGGAAGGAAGGAAGGAAGGAAAAGAAAAGAAAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	146	0.0068	47	c.735 others(62): Show c.735+442_735+443insTTCTTTTCTTTTCTTTTCTTTTCTTTTCCT TCCTTCCTTCCTTCCTT	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9			chr19	TogoVar
COQ2_chr4_83258824_83289798	83276070	T T	TTATATAA others(40): Show TTATATAATATATAAAATATATATTATATATAATATATATTATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0080 a0002c0003t0001g0080	1	258	0.0039	47	c.421 others(64): Show c.421-2454_421-2453insTATATATAATATATATTATATATAATAT ATATTTTATATATTATATA	COQ2	ENSG00000173085.15	transcript	ENST00000647002.2	protein_coding	2/6			chr4	TogoVar
CORO1A_chr16_30178602_30194076	30190375	A A	ATAGTATA others(40): Show ATAGTATATATATTATATATATATAGTATAATATATATATAGTATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	340	0.0029	47	c.14 others(58): Show c.1411_*1412insTAGTATATATATTATATATATATAGTATAATATA TATATAGTATAAT	CORO1A	ENSG00000102879.17	transcript	ENST00000219150.10	protein_coding		1300		chr16	TogoVar
CPAMD8_chr19_16887951_17031810	16913451	G G	GCCATGTG others(40): Show GCCATGTGAACATACAGTGAGAAGGTGGCAGTCAACAAATCAGGAAGA	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	269	0.0037	47	c.386 others(64): Show c.3861+926_3861+972dupTCTTCCTGATTTGTTGACTGCCACCTTC TCACTGTATGTTCACATGG	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	29/41			chr19	TogoVar
CPE_chr4_165374008_165503547	165461186	A A	AAAAAAAA others(40): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAAAG	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	149	0.0067	47	c.308 others(64): Show c.308-3203_308-3202insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAGAAAGAAAGAAAAAGA	CPE	ENSG00000109472.14	transcript	ENST00000402744.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
CPNE7_chr16_89570758_89602246	89587808	C C	CCCCCGTG others(40): Show CCCCCGTGTCACCCCCATGTCACCCGCGTGTCACCCACAGATACACGG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0190 a0001c0002t0002g0190	1	336	0.0030	47	c.927 others(62): Show c.927+710_927+711insGTGTCACCCCCATGTCACCCGCGTGTCACC CACAGATACACGGCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE8_chr12_38647203_38910591	38902228	A A	AGAGGAAA others(40): Show AGAGGAAAGAAAGAAAGAAAAGAAAGAAGAAAGAAGAAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	340	0.0029	47	c.98+ others(62): Show c.98+3208_98+3209insCTTCCTTCCTTTCTTCTTTCTTCTTTCTTT TCTTTCTTTCTTTCCTC	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	1/19			chr12	TogoVar
CPT1C_chr19_49686116_49718731	49702007	A A	AATATATT others(40): Show AATATATTTATTTATAAATAAATATATATTTATTTATAAATTATAAAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01361.hp1 HG01952.hp1 others(2): Show HG01099.hp1 HG01361.hp1 HG01952.hp1 NA18969.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 others(2): Show a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0225 a0001c0001t0001g0274	5	146	0.0342	47	c.693 others(62): Show c.693+391_693+392insAAATATATATTTATTTATAAATTATAAATA TATATTTATTTATAAAT	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
CPXM2_chr10_123740639_123896807	123881225	A A	ACCCTCCC others(40): Show ACCCTCCCCTCCCCCTCCCCTCCCCTGTCCCTCCCCTCCCCTCCCCTC	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0226 a0001c0004t0001g0226	1	148	0.0068	47	c.305 others(62): Show c.305-917_305-916insGAGGGGAGGGGAGGGGAGGGACAGGGGAGG GGAGGGGGAGGGGAGGG	CPXM2	ENSG00000121898.13	transcript	ENST00000241305.4	protein_coding	1/13			chr10	TogoVar
CRACD_chr4_56044098_56335609	56183287	A A	AAATAAAA others(40): Show AAATAAAATAAAATAAAATAAAATAAAATAAAATAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0010 a0010	a0010c0042 a0010c0042	a0010c0042t0006 a0010c0042t0006	a0010c0042t0006g0153 a0010c0042t0006g0153	1	245	0.0041	47	c.-18 others(66): Show c.-189+3859_-189+3860insTAAAATAAAATAAAATAAAATAAAAT AAAATAAATAAAATAAAATAA	CRACD	ENSG00000109265.15	transcript	ENST00000682029.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CRB2_chr9_123351197_123383753	123369048	C C	CTGTGACC others(40): Show CTGTGACCTGGGCGGGGTCAGGCTGGTGGGTGGCTGGTTCCTAGAGAG	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0174 a0001c0007t0001g0174	1	430	0.0023	47	c.105 others(66): Show c.1055-1060_1055-1059insTGTGACCTGGGCGGGGTCAGGCTGGT GGGTGGCTGGTTCCTAGAGAG	CRB2	ENSG00000148204.12	transcript	ENST00000373631.8	protein_coding	6/12			chr9	TogoVar
CRELD2_chr22_49913634_49932537	49926713	C C	CCCCCACC others(40): Show CCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGT	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA20805.hp2 HG06807.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0018 a0001c0001 a0001c0018	a0001c0001t0001 a0001c0018t0002 a0001c0001t0001 a0001c0018t0002	a0001c0001t0001g0001 a0001c0018t0002g0134 a0001c0001t0001g0001 a0001c0018t0002g0134	2	55	0.0364	47	c.101 others(64): Show c.1010-538_1010-537insACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCACCCCGGGTCCCC	CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRIP2_chr14_105469821_105485162	105474711	C C	CGGCCCCC others(40): Show CGGCCCCCAGCCCGGGGGACGGGTTATCGAGGCCCCGCCCCGGCCGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	314	0.0032	47	c.-15 others(56): Show c.-152_-151insGGCCCCCAGCCCGGGGGACGGGTTATCGAGGCCCCG CCCCGGCCGCG	CRIP2	ENSG00000182809.11	transcript	ENST00000329146.9	protein_coding		109		chr14	TogoVar
CRLF2_chrX_1185490_1217649	1191361	C C	CTTTCTTT others(40): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01123.hp2 HG01993.hp2 others(6): Show HG00558.hp1 HG01123.hp2 HG01993.hp2 HG03831.hp2 NA18951.hp2 NA18969.hp1 NA19065.hp1 NA19066.hp1 NA19077.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0005 a0002c0029 others(1): Show a0001c0001 a0002c0005 a0002c0029 a0007c0018	a0001c0001t0001 a0002c0005t0001 a0002c0029t0001 others(1): Show a0001c0001t0001 a0002c0005t0001 a0002c0029t0001 a0007c0018t0001	a0001c0001t0001g0073 a0001c0001t0001g0080 a0001c0001t0001g0099 others(6): Show a0001c0001t0001g0073 a0001c0001t0001g0080 a0001c0001t0001g0099 a0001c0001t0001g0135 a0001c0001t0001g0136 a0002c0005t0001g0093 a0002c0005t0001g0120 a0002c0029t0001g0150 a0007c0018t0001g0129	9	118	0.0763	47	c.853 others(62): Show c.853-202_853-201insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAA	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	7/7			chrX	TogoVar
CRPPA_chr7_16082525_16426538	16342782	A A	AAAAAAAA others(40): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATAGATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0075 a0002c0002t0075	a0002c0002t0075g0220 a0002c0002t0075g0220	1	10	0.1000	47	c.684 others(66): Show c.684+33309_684+33310insATATATCTATATATATATATATATAT ATATATTTTTTTTTTTTTTTT	CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	3/9			chr7	TogoVar
CRPPA_chr7_16082525_16426538	16342782	A A	AAAAAAAA others(40): Show AAAAAAAAAAAAAAATATATATATATATATATATATAGATAGATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01928.hp2 HG03130.hp2 HG01081.hp1 HG01928.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0036 a0001c0001t0085 a0001c0001t0021 a0001c0001t0036 a0001c0001t0085	a0001c0001t0021g0137 a0001c0001t0036g0019 a0001c0001t0085g0017 a0001c0001t0021g0137 a0001c0001t0036g0019 a0001c0001t0085g0017	3	12	0.2500	47	c.684 others(66): Show c.684+33309_684+33310insATATATCTATCTATATATATATATAT ATATATATTTTTTTTTTTTTT	CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	3/9			chr7	TogoVar
CRPPA_chr7_16082525_16426538	16342782	A A	AAAAAAAA others(40): Show AAAAAAAAAAAAAAATATATATATATATATATATATATATAGATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00741.hp1 HG01257.hp1 others(2): Show HG00099.hp2 HG00741.hp1 HG01257.hp1 HG01517.hp2 HG01891.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0002c0002t0079 others(1): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0079 a0002c0002t0080	a0001c0001t0001g0070 a0001c0001t0004g0074 a0001c0001t0004g0135 others(2): Show a0001c0001t0001g0070 a0001c0001t0004g0074 a0001c0001t0004g0135 a0002c0002t0079g0234 a0002c0002t0080g0237	5	14	0.3571	47	c.684 others(66): Show c.684+33309_684+33310insATATATCTATATATATATATATATAT ATATATATTTTTTTTTTTTTT	CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	3/9			chr7	TogoVar
CRPPA_chr7_16082525_16426538	16342782	A A	AAAAAAAA others(40): Show AAAAAAAAAAAAATATATATATATATATATATATATATATAGATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01071.hp1 HG00280.hp2 HG01071.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0063 a0001c0001t0004 a0002c0002t0063	a0001c0001t0004g0106 a0002c0002t0063g0236 a0001c0001t0004g0106 a0002c0002t0063g0236	2	11	0.1818	47	c.684 others(66): Show c.684+33309_684+33310insATATATCTATATATATATATATATAT ATATATATATTTTTTTTTTTT	CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	3/9			chr7	TogoVar
CRX_chr19_47816937_47848324	47845961	A A	AGGTCTAC others(40): Show AGGTCTACCCATGCAAGGGAATATTGCTCAGCCATGAAAAGGAAGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	342	0.0029	47	c.59 others(58): Show c.5994_*5995insGGTCTACCCATGCAAGGGAATATTGCTCAGCCAT GAAAAGGAAGAAG	CRX	ENSG00000105392.17	transcript	ENST00000221996.12	protein_coding		2638		chr19	TogoVar
CRYBG1_chr6_106355717_106577017	106361970	T T	TTTCTTTC others(40): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02723.hp2 HG02976.hp1 others(1): Show HG02486.hp1 HG02723.hp2 HG02976.hp1 HG03209.hp2	a0007 a0036 a0041 others(1): Show a0007 a0036 a0041 a0048	a0007c0007 a0036c0059 a0041c0075 others(1): Show a0007c0007 a0036c0059 a0041c0075 a0048c0073	a0007c0007t0004 a0036c0059t0002 a0041c0075t0001 others(1): Show a0007c0007t0004 a0036c0059t0002 a0041c0075t0001 a0048c0073t0004	a0007c0007t0004g0226 a0036c0059t0002g0232 a0041c0075t0001g0242 others(1): Show a0007c0007t0004g0226 a0036c0059t0002g0232 a0041c0075t0001g0242 a0048c0073t0004g0243	4	227	0.0176	47	c.173 others(62): Show c.173+891_173+892insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTT	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CSH1_chr17_63889918_63901574	63898148	C C	CTCTTCTT others(40): Show CTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	279	0.0036	47	c.-16 others(58): Show c.-1638_-1637insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAGA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1575		chr17	TogoVar
CSMD1_chr8_2930361_4999914	3448396	A A	AGGGAAGG others(40): Show AGGGAAGGAAGGAAGGAAGAAAGGGAGGGAGGGAGAGAGGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01884.hp1 HG02055.hp2 others(9): Show HG01071.hp2 HG01884.hp1 HG02055.hp2 HG02280.hp1 HG02559.hp2 HG02647.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 NA18906.hp1 NA18906.hp2 NA19240.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0006 a0027 a0028	a0001c0043 a0001c0045 a0001c0046 others(9): Show a0001c0043 a0001c0045 a0001c0046 a0001c0047 a0002c0032 a0002c0053 a0002c0074 a0002c0084 a0004c0057 a0006c0067 a0027c0110 a0028c0044	a0001c0043t0031 a0001c0045t0014 a0001c0046t0073 others(9): Show a0001c0043t0031 a0001c0045t0014 a0001c0046t0073 a0001c0047t0012 a0002c0032t0053 a0002c0053t0022 a0002c0074t0040 a0002c0084t0017 a0004c0057t0080 a0006c0067t0059 a0027c0110t0074 a0028c0044t0071	a0001c0043t0031g0044 a0001c0045t0014g0010 a0001c0046t0073g0091 others(9): Show a0001c0043t0031g0044 a0001c0045t0014g0010 a0001c0046t0073g0091 a0001c0047t0012g0024 a0002c0032t0053g0061 a0002c0053t0022g0041 a0002c0074t0040g0031 a0002c0084t0017g0087 a0004c0057t0080g0075 a0006c0067t0059g0079 a0027c0110t0074g0082 a0028c0044t0071g0085	12	126	0.0952	47	c.156 others(68): Show c.1561+20315_1561+20316insCCTCCCTCCCTCTCTCCCTCCCTC CCTTTCTTCCTTCCTTCCTTCCC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSNK1G2_chr19_1936172_1986338	1967793	C C	CCTCCTCC others(40): Show CCTCCTCCCCAGGCTGCCCCCGACCACCCTTCAGTTCTGCAGGTGGGG	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0340 a0001c0001t0001g0340	1	376	0.0027	47	c.-26 others(66): Show c.-265-1715_-265-1714insCTCCTCCCCAGGCTGCCCCCGACCAC CCTTCAGTTCTGCAGGTGGGG	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11			chr19	TogoVar
CSNK1G2_chr19_1936172_1986338	1968111	C C	CGACCACC others(40): Show CGACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCCCAGGCTGTCCCT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02083.hp1 HG02523.hp1 others(1): Show HG02074.hp2 HG02083.hp1 HG02523.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0110 a0001c0001t0001g0113 others(1): Show a0001c0001t0001g0094 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0140	4	348	0.0115	47	c.-26 others(66): Show c.-265-1361_-265-1315dupCAGGCTGTCCCTGACCACCCTTCAGT TCTGCAGGTGGGGCTCCTCCC	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CSPP1_chr8_67059392_67201614	67159937	C C	CCTCCTTC others(40): Show CCTCCTTCCTTCCTTCTTCCTTCCTTCCTCCTTCCTTCCTTCTTCCTT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03130.hp2 HG03540.hp2 others(4): Show HG02738.hp1 HG03130.hp2 HG03540.hp2 NA18946.hp2 NA18982.hp1 NA19002.hp2 NA19004.hp2	a0002 a0003 a0006 a0002 a0003 a0006	a0002c0002 a0002c0004 a0003c0003 others(1): Show a0002c0002 a0002c0004 a0003c0003 a0006c0006	a0002c0002t0002 a0002c0004t0006 a0003c0003t0001 others(1): Show a0002c0002t0002 a0002c0004t0006 a0003c0003t0001 a0006c0006t0001	a0002c0002t0002g0121 a0002c0004t0006g0030 a0003c0003t0001g0015 others(4): Show a0002c0002t0002g0121 a0002c0004t0006g0030 a0003c0003t0001g0015 a0003c0003t0001g0016 a0003c0003t0001g0022 a0003c0003t0001g0027 a0006c0006t0001g0010	7	146	0.0479	47	c.253 others(64): Show c.2538+802_2538+803insCCTTCCTTCCTTCTTCCTTCCTTCCTCC TTCCTTCCTTCTTCCTTCT	CSPP1	ENSG00000104218.16	transcript	ENST00000678616.1	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
CSPP1_chr8_67059392_67201614	67159941	C C	CCTCCTTC others(40): Show CCTCCTTCCTTCCTTCTTCCTTCCTTCCTCCTTCCTTCCTTCTTCCTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02818.hp1 HG03516.hp2 others(3): Show HG02717.hp2 HG02818.hp1 HG03516.hp2 HG04199.hp1 NA18988.hp2 NA20905.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0002c0007 a0003c0003 a0002c0002 a0002c0007 a0003c0003	a0002c0002t0002 a0002c0007t0002 a0003c0003t0001 a0002c0002t0002 a0002c0007t0002 a0003c0003t0001	a0002c0002t0002g0126 a0002c0002t0002g0128 a0002c0007t0002g0146 others(3): Show a0002c0002t0002g0126 a0002c0002t0002g0128 a0002c0007t0002g0146 a0003c0003t0001g0018 a0003c0003t0001g0023 a0003c0003t0001g0026	6	141	0.0426	47	c.253 others(64): Show c.2538+806_2538+807insCCTTCCTTCCTTCTTCCTTCCTTCCTCC TTCCTTCCTTCTTCCTTCT	CSPP1	ENSG00000104218.16	transcript	ENST00000678616.1	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
CT45A1_chrX_135708639_135728228	135723962	C C	CATATATG others(40): Show CATATATGGTATATATACCATATATGGTATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	2	0.5000	47	c.92 others(56): Show c.929_*930insATATATGGTATATATACCATATATGGTATATATATA TATATATATAT	CT45A1	ENSG00000268940.6	transcript	ENST00000594565.6	protein_coding		735		chrX	TogoVar
CT45A6_chrX_135789685_135807787	135803898	A A	AAAGAAAG others(40): Show AAAGAAAGAGAGAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	8	0.1250	47	c.-13 others(58): Show c.-1395_-1394insCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTTTCT TTCTCTCTTTCTT	CT45A6	ENSG00000278289.5	transcript	ENST00000620654.2	protein_coding		1112		chrX	TogoVar
CTNNA2_chr2_79508051_80653780	80577704	T T	TGTTTTGT others(40): Show TGTTTTGTTTTTTATTTTTGTTTGTTGTTGTTGTTGTTGTTGTTGTTG	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02257.hp1 HG02965.hp2 others(4): Show HG02148.hp1 HG02257.hp1 HG02965.hp2 HG03130.hp1 HG03225.hp1 HG03688.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0001 a0001c0002t0001 a0001c0010t0001 a0001c0001t0001 a0001c0002t0001 a0001c0010t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0002t0001g0004 others(4): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0002t0001g0004 a0001c0002t0001g0007 a0001c0002t0001g0022 a0001c0002t0001g0064 a0001c0010t0001g0024	7	65	0.1077	47	c.189 others(66): Show c.1893+3390_1893+3391insGTTTTGTTTTTTATTTTTGTTTGTTG TTGTTGTTGTTGTTGTTGTTG	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	13/18			chr2	TogoVar
CTNNA3_chr10_65907523_67701195	66071386	A A	AAAACAAC others(40): Show AAAACAACTAACACATATATGACAGACACTCTTCTTGAAACCATGAAC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp2 HG01243.hp1 others(25): Show HG01070.hp1 HG01070.hp2 HG01243.hp1 HG01243.hp2 HG02145.hp2 HG02280.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03195.hp1 HG03195.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA19080.hp1 NA19080.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0003 a0001c0004 others(7): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0002c0002 a0003c0009 a0004c0010 a0005c0008	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(21): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0016 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0003t0018 a0001c0003t0022 a0001c0004t0001 a0001c0005t0010 a0001c0006t0001 a0001c0007t0015 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0017 a0003c0009t0003 a0004c0010t0002 a0005c0008t0005	a0001c0001t0001g0015 a0001c0001t0004g0041 a0001c0001t0005g0011 others(25): Show a0001c0001t0001g0015 a0001c0001t0004g0041 a0001c0001t0005g0011 a0001c0001t0006g0007 a0001c0001t0006g0008 a0001c0001t0006g0027 a0001c0001t0007g0020 a0001c0001t0016g0003 a0001c0001t0021g0009 a0001c0001t0024g0045 a0001c0001t0025g0044 a0001c0003t0018g0037 a0001c0003t0022g0022 a0001c0004t0001g0018 a0001c0005t0010g0029 a0001c0005t0010g0034 a0001c0006t0001g0001 a0001c0007t0015g0016 a0002c0002t0001g0035 a0002c0002t0002g0013 a0002c0002t0003g0039 a0002c0002t0003g0042 a0002c0002t0004g0028 a0002c0002t0005g0014 a0002c0002t0017g0040 a0003c0009t0003g0036 a0004c0010t0002g0021 a0005c0008t0005g0033	28	46	0.6087	47	c.197 others(66): Show c.1978-1898_1978-1897insGTTCATGGTTTCAAGAAGAGTGTCTG TCATATATGTGTTAGTTGTTT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	14/17			chr10	TogoVar
CYFIP1_chr15_22862052_22985368	22963496	T T	TAACATAA others(40): Show TAACATAACATAACATAACATAACATAACATAACATAACATAACATAA	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18971.hp2 NA18942.hp1 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0067 a0001c0001t0004g0148 a0001c0001t0002g0067 a0001c0001t0004g0148	2	336	0.0060	47	c.-6- others(64): Show c.-6-16252_-6-16206dupTTATGTTATGTTATGTTATGTTATGTTA TGTTATGTTATGTTATGTT	CYFIP1	ENSG00000273749.5	transcript	ENST00000617928.5	protein_coding	1/30			chr15	TogoVar
CYFIP1_chr15_22862052_22985368	22963501	T T	TAACATAA others(40): Show TAACATAACATAACATAACATAACATAACATAACATAACATAACATAA	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19083.hp2 NA19012.hp2 NA19083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0028 a0001c0002t0002 a0001c0002t0028	a0001c0002t0002g0151 a0001c0002t0028g0250 a0001c0002t0002g0151 a0001c0002t0028g0250	2	333	0.0060	47	c.-6- others(64): Show c.-6-16257_-6-16211dupTTATGTTATGTTATGTTATGTTATGTTA TGTTATGTTATGTTATGTT	CYFIP1	ENSG00000273749.5	transcript	ENST00000617928.5	protein_coding	1/30			chr15	TogoVar
CYFIP1_chr15_22862052_22985368	22963511	T T	TAACATAA others(40): Show TAACATAACATAACATAACATAACATAACATAACATAACATAACATAA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0146 a0001c0002t0029g0146	1	335	0.0030	47	c.-6- others(64): Show c.-6-16267_-6-16221dupTTATGTTATGTTATGTTATGTTATGTTA TGTTATGTTATGTTATGTT	CYFIP1	ENSG00000273749.5	transcript	ENST00000617928.5	protein_coding	1/30			chr15	TogoVar
CYP2D6_chr22_42121499_42135810	42133481	A A	ATTTTCAT others(40): Show ATTTTCATTTATTTTACCCTACAACTCCAGAATTTTTATTTGGTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	416	0.0024	47	c.-26 others(58): Show c.-2691_-2690insAGGAACCAAATAAAAATTCTGGAGTTGTAGGGTA AAATAAATGAAAA	CYP2D6	ENSG00000100197.23	transcript	ENST00000645361.2	protein_coding		2672		chr22	TogoVar
CYP2W1_chr7_978181_994640	994017	G G	GAGCAGTT others(40): Show GAGCAGTTTCTTGCAGGATTGATGTCTGAGAAAGCTCACACCAAGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0002 a0002c0003t0001g0002	1	406	0.0025	47	c.51 others(58): Show c.5195_*5196insAGCAGTTTCTTGCAGGATTGATGTCTGAGAAAGC TCACACCAAGTGC	CYP2W1	ENSG00000073067.14	transcript	ENST00000308919.12	protein_coding		4378		chr7	TogoVar
CYP4F3_chr19_15635897_15667825	15650668	C C	CTTTCTTT others(40): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0011 a0011	a0011c0016 a0011c0016	a0011c0016t0042 a0011c0016t0042	a0011c0016t0042g0071 a0011c0016t0042g0071	1	419	0.0024	47	c.918 others(62): Show c.918+486_918+532dupTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTT	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15650780	T T	TTTCTTTC others(40): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG04228.hp1 NA18966.hp1 HG04228.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0002 a0001c0001t0015	a0001c0001t0002g0226 a0001c0001t0015g0198 a0001c0001t0002g0226 a0001c0001t0015g0198	2	215	0.0093	47	c.918 others(62): Show c.918+617_918+618insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTC TTTCTTTCTTTCTTTCT	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr19	TogoVar

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