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
ATXN7L1_chr7_105599772_105881599	105733654	C C	CCATCCAT others(177): Show CCATCCATCCACCCATCCACCCATCCATCCATTCATCCATCCACCCATCC ATCCATCCACCCATCCATCCACCCAACCACCCATCCATCCACCCCTCCAT CCGTCCATCCATCCACCCATCCATCCATCCACCCATCCACCCATTCATCC ATCCACCCATCCATCCATCCATCCATCCATCCATT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0206 a0001c0001t0005g0206	1	252	0.0040	184	c.355 others(203): Show c.355+54949_355+54950insAATGGATGGATGGATGGATGGATGGA TGGGTGGATGGATGAATGGGTGGATGGGTGGATGGATGGATGGGTGGATG GATGGACGGATGGAGGGGTGGATGGATGGGTGGTTGGGTGGATGGATGGG TGGATGGATGGATGGGTGGATGGATGAATGGATGGATGGGTGGATGGGTG GATGGATG	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
BCHE_chr3_165767904_165842423	165797255	T T	TCCCTCCC others(177): Show TCCCTCCCCCCTCCCTTCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCC TCCCCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCTTCC TCCCTCCCTCCCCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCC TTCCTTCTTCCCTCCATACTTCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02486.hp2 HG01346.hp1 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0070 a0001c0001t0001g0071	2	304	0.0066	184	c.151 others(205): Show c.1518-10945_1518-10944insGGGAGGGAGGGAGGAAGTATGGAG GGAAGAAGGAAGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGGG GGAGGGAGGGAGGAAGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAA GGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAAGAAGGAAGGAAGGGA GGGGGGAGGG	BCHE	ENSG00000114200.10	transcript	ENST00000264381.8	protein_coding	2/3			chr3	TogoVar
BCHE_chr3_165767904_165842423	165797255	T T	TCCCTCCC others(177): Show TCCCTCCCCCCTCCCTTCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCC TCCCCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCTTCC TCCCTCCCTCCCCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCC TTCCTTCTTCCCTCCCTCCTTCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG02109.hp1 others(12): Show HG01891.hp1 HG02055.hp1 HG02109.hp1 HG02258.hp2 HG02723.hp1 HG02886.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03195.hp1 HG03209.hp2 HG06807.hp2 NA19030.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0010 a0002c0002t0008 a0001c0001t0002 a0001c0001t0010 a0002c0002t0008	a0001c0001t0002g0012 a0001c0001t0002g0030 a0001c0001t0002g0045 others(9): Show a0001c0001t0002g0012 a0001c0001t0002g0030 a0001c0001t0002g0045 a0001c0001t0002g0238 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0246 a0001c0001t0010g0249 a0002c0002t0008g0119 a0002c0002t0008g0120 a0002c0002t0008g0121	15	304	0.0493	184	c.151 others(205): Show c.1518-10945_1518-10944insGGGAGGGAGGGAGGAAGGAGGGAG GGAAGAAGGAAGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGGG GGAGGGAGGGAGGAAGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAA GGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAAGAAGGAAGGAAGGGA GGGGGGAGGG	BCHE	ENSG00000114200.10	transcript	ENST00000264381.8	protein_coding	2/3			chr3	TogoVar
BCL11A_chr2_60452194_60558654	60468017	G G	GTAGTGAT others(177): Show GTAGTGATGGTGGTGGTGGTGATGGTACTGGTGGTGATGGTGGTGGTGGT AGTGATGGTGGTGGTAATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTAG TGATGGTGCTGGTGGTCATGGTACTTTGTGGTGATGGTGATGGTGGTGGT GATGGTGGTGGTGGTGGTGGTGGTGGTAGTGATAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG00642.hp2 others(20): Show HG00323.hp1 HG00423.hp1 HG00642.hp2 HG00733.hp2 HG01074.hp1 HG01243.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02027.hp1 HG02056.hp1 HG02080.hp2 HG02300.hp1 NA19004.hp2 NA19007.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0016 a0001c0001t0020 a0001c0001t0022 a0001c0001t0048 a0001c0001t0059 a0001c0003t0002	a0001c0001t0001g0033 a0001c0001t0001g0054 a0001c0001t0001g0055 others(19): Show a0001c0001t0001g0033 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0002g0001 a0001c0001t0002g0090 a0001c0001t0002g0101 a0001c0001t0002g0130 a0001c0001t0004g0084 a0001c0001t0004g0086 a0001c0001t0004g0089 a0001c0001t0005g0229 a0001c0001t0005g0231 a0001c0001t0006g0241 a0001c0001t0006g0245 a0001c0001t0016g0256 a0001c0001t0020g0047 a0001c0001t0022g0180 a0001c0001t0048g0148 a0001c0001t0059g0210 a0001c0003t0002g0107	23	262	0.0878	184	c.487 others(199): Show c.487+714_487+715insTTATCACTACCACCACCACCACCACCACCA CCATCACCACCACCATCACCATCACCACAAAGTACCATGACCACCAGCAC CATCACTACCACCACCACCACCATCACCACCACCACCATTACCACCACCA TCACTACCACCACCACCATCACCACCAGTACCATCACCACCACCACCATC ACTA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BOC_chr3_113206557_113292459	113236266	G G	GTATATAT others(177): Show GTATATATACCCATGGGTATATATATATATATATATATATATATATACCC ATGGGTATATATATATATATATATATATATATATACCCATGGGTATATAT ATATATATATATATATATATATACCCATGGGTATATATATATATATATAT ATATATATATACCCATGGGTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0007 a0007	a0007c0026 a0007c0026	a0007c0026t0025 a0007c0026t0025	a0007c0026t0025g0364 a0007c0026t0025g0364	1	386	0.0026	184	c.-81 others(203): Show c.-81-13403_-81-13402insGTATATATATATATATATATATATAT ATATACCCATGGGTATATATATATATATATATATATATATATACCCATGG GTATATATATATATATATATATATATATATACCCATGGGTATATATATAT ATATATATATATACCCATGGGTATATATATATATATATATATATATATAT ACCCATGG	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOC_chr3_113206557_113292459	113236266	G G	GTATATAT others(177): Show GTATATATACCCATGGGTATATATATATATATATATATATATATATATAT ATACCCATGGGTATATATATATATATATATATATATATACCCATGGGTAT ATATATATATATATATATATATATATACCCATGGGTATATATATATATAT ATATATATATACCCATGGGTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0007 a0007	a0007c0028 a0007c0028	a0007c0028t0001 a0007c0028t0001	a0007c0028t0001g0012 a0007c0028t0001g0012	1	386	0.0026	184	c.-81 others(203): Show c.-81-13410_-81-13409insTATATACCCATGGGTATATATATATA TATATATATATATATACCCATGGGTATATATATATATATATATATATATA TATACCCATGGGTATATATATATATATATATATATATACCCATGGGTATA TATATATATATATATATATACCCATGGGTATATATATATATATATATATA TATATATA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOC_chr3_113206557_113292459	113236284	A A	ATATATAT others(177): Show ATATATATATATATATATATATATATATATATACCCATGGGTATATATAT ATATATATATATATATATACCCATGGGTATATATATATATATATATATAT ATATATATACCCATGGGTATATATATATATATATATATATATACCCATGG GTATATATATATATATATATATATATACCCATGGG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0120 a0001c0002t0001g0120	1	386	0.0026	184	c.-81 others(203): Show c.-81-13410_-81-13409insTATACCCATGGGTATATATATATATA TATATATATATATACCCATGGGTATATATATATATATATATATATATATA TATACCCATGGGTATATATATATATATATATATATATACCCATGGGTATA TATATATATATATATATATATACCCATGGGTATATATATATATATATATA TATATATA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOC_chr3_113206557_113292459	113236284	A A	ATATATAT others(177): Show ATATATATATATATATATATATATATATATATATACCCATGGGTATATAT ATATATATATATATATATATACCCATGGGTATATATATATATATATATAT ATATATATATATACCCATGGGTATATATATATATATATATATATACCCAT GGGTATATATATATATATATATATATACCCATGGG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0155 a0001c0002t0018g0155	1	386	0.0026	184	c.-81 others(203): Show c.-81-13410_-81-13409insTATATACCCATGGGTATATATATATA TATATATATATATATACCCATGGGTATATATATATATATATATATATATA TATATATACCCATGGGTATATATATATATATATATATATACCCATGGGTA TATATATATATATATATATATACCCATGGGTATATATATATATATATATA TATATATA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOC_chr3_113206557_113292459	113236288	A A	ATATATAT others(177): Show ATATATATATATATATATATATATACCCATGGGTATATATATATATATAT ATATATATATATACCCATGGGTATATATATATATATATATATATATATAT ATATACCCATGGGTATATATATATATATATATATATATATACCCATGGGT ATATATATATATATATATATATATATACCCATGGG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0020 a0001c0009t0020	a0001c0009t0020g0182 a0001c0009t0020g0184 a0001c0009t0020g0182 a0001c0009t0020g0184	2	386	0.0052	184	c.-81 others(203): Show c.-81-13403_-81-13402insGTATATATATATATATATATATATAT ATATACCCATGGGTATATATATATATATATATATATATATATATATACCC ATGGGTATATATATATATATATATATATATATACCCATGGGTATATATAT ATATATATATATATATATACCCATGGGTATATATATATATATATATATAT ACCCATGG	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BRD4_chr19_15230519_15337539	15271909	T T	TACACACC others(177): Show TACACACCAGTGGCTCTGGTGTGCACACACCAGTGGCTCTGGTGTGCACA CACCAGTGGCTCTGGTGTGCACACACCAGTGGCTCTGGTGTGCACACACC AGTGGCTCTGGTGTGCACACACCAGTGGCTCTGGTGTGCACACACCAGTG GCTCTGGTGTGCACACACCAGTGGCTCTGGTGTGC	intron_variant intron_variant	MODIFIER	HG02738.hp1 NA19030.hp1 HG02738.hp1 NA19030.hp1	a0001 a0012 a0001 a0012	a0001c0003 a0012c0040 a0001c0003 a0012c0040	a0001c0003t0062 a0012c0040t0058 a0001c0003t0062 a0012c0040t0058	a0001c0003t0062g0104 a0012c0040t0058g0039 a0001c0003t0062g0104 a0012c0040t0058g0039	2	208	0.0096	184	c.285 others(199): Show c.285+905_285+906insGCACACCAGAGCCACTGGTGTGTGCACACC AGAGCCACTGGTGTGTGCACACCAGAGCCACTGGTGTGTGCACACCAGAG CCACTGGTGTGTGCACACCAGAGCCACTGGTGTGTGCACACCAGAGCCAC TGGTGTGTGCACACCAGAGCCACTGGTGTGTGCACACCAGAGCCACTGGT GTGT	BRD4	ENSG00000141867.19	transcript	ENST00000679869.1	protein_coding	2/19			chr19	TogoVar
BSG_chr19_567596_588493	580837	A A	AGGCCTAG others(177): Show AGGCCTAGACTGGGGGTCCCGGACCCAGCCCTCAGGACTGGGTGAGGGGC GTAGACTGGGGGTCCCGGACCCAGCCCTCCGGACTGGGTGAGGGGCCTAG ACTGGGGGTCCCGGACCCAGCCCTCCGGACTGGGTGAGGGGCCTAGACTG GGGGTCCCGGACCCAGCCCTCCGGACTGGGTGAGG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01243.hp1 HG02572.hp1 HG01192.hp2 HG01243.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0085 a0001c0002t0001g0087 a0001c0002t0001g0089 a0001c0002t0001g0085 a0001c0002t0001g0087 a0001c0002t0001g0089	3	306	0.0098	184	c.792 others(199): Show c.792+104_792+105insGTAGACTGGGGGTCCCGGACCCAGCCCTCC GGACTGGGTGAGGGGCCTAGACTGGGGGTCCCGGACCCAGCCCTCCGGAC TGGGTGAGGGGCCTAGACTGGGGGTCCCGGACCCAGCCCTCCGGACTGGG TGAGGGGCCTAGACTGGGGGTCCCGGACCCAGCCCTCAGGACTGGGTGAG GGGC	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
C1orf174_chr1_3884133_3905272	3892533	A A	AGGGTGCT others(177): Show AGGGTGCTAGGATCAGGGCCCGGGTCTAGACACACACACGGGTGGGAGGG TGCTAGGATCAGGGCCCGGGTCTAGACACACACACGGGTGGGCGGGTGCT AGGATCAGGGCCCGGGTCTAGACACACACACGGGTGGGCGGGTGCTAGGA TCAGGGCCCGGGTCTAGACACACACACGGGTGGGC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0019 a0009c0014t0019	a0009c0014t0019g0047 a0009c0014t0019g0047	1	440	0.0023	184	c.129 others(199): Show c.129+349_129+350insGCCCACCCGTGTGTGTGTCTAGACCCGGGC CCTGATCCTAGCACCCGCCCACCCGTGTGTGTGTCTAGACCCGGGCCCTG ATCCTAGCACCCGCCCACCCGTGTGTGTGTCTAGACCCGGGCCCTGATCC TAGCACCCTCCCACCCGTGTGTGTGTCTAGACCCGGGCCCTGATCCTAGC ACCC	C1orf174	ENSG00000198912.12	transcript	ENST00000361605.4	protein_coding	2/3			chr1	TogoVar
C20orf96_chr20_265863_295750	278930	C C	CGGAGGGA others(177): Show CGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGG GAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGA CGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGGAGGGCGG GACGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02698.hp2 HG03490.hp2 HG01192.hp1 HG02698.hp2 HG03490.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0144 a0002c0005t0001g0182 a0002c0005t0001g0232 a0002c0005t0001g0144 a0002c0005t0001g0182 a0002c0005t0001g0232	3	410	0.0073	184	c.465 others(199): Show c.465+241_465+242insCTCCCTCCCTCCGTCCCGCCCTCCCGCCCT CCGTCCCGCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCGTCCCGCC CTCCGTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCG CCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCC CTCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C20orf96_chr20_265863_295750	278980	G G	GCGGGAGG others(177): Show GCGGGAGGGAGGGAGGGAGGGAGGGACGGAGGGAGGAAGGGCGGGACAGA GGGAGGGAGGGAGGGAGGAAGGGCGGGACAGAGGGAGGGAGGGAGGGAGG GAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGA GGGAGGGAGGGAGGGAGGGAGGGACGGAGGGAGGA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	410	0.0024	184	c.465 others(199): Show c.465+191_465+192insTCCTCCCTCCGTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCTCCCTCCGTCCCG CCCTCCCTCCCTCCCTCCCTCCCTCTGTCCCGCCCTTCCTCCCTCCCTCC CTCCCTCTGTCCCGCCCTTCCTCCCTCCGTCCCTCCCTCCCTCCCTCCCT CCCG	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C20orf96_chr20_265863_295750	279017	A A	AGGGAGGG others(177): Show AGGGAGGGAGGGAGGGAGGGACGGAGGGAGGGCGGGACGGAGGGAGGGAG GGCGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGAGGG AGGGCGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGAG GGAGGGAGGGAGGGAGGGACGGAGGGAGGAAGGGC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0360 a0001c0001t0001g0360	1	410	0.0024	184	c.465 others(199): Show c.465+154_465+155insGCCCTTCCTCCCTCCGTCCCTCCCTCCCTC CCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCC GCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTC CCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCGTCCCTCCCTCCCTCCC TCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C2CD3_chr11_74007718_74176002	74139909	T T	TAATGTCC others(177): Show TAATGTCCCCCATTCCCTAGAGGATTGTAAGGAATGTCCCCCATTCCCTA GGATTGTAAGGAATGTCCCCCATTCCCTACAGGATTGTAAGGAATGTCCC CCATTCCCTACAGGATTGTAAGGAATGTCCCCCATTCCCTACAGGATTGT AAGGAATGTCCCCCATTCCCTACAGGATTGTAAGG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0285 a0003c0002t0001g0285	1	318	0.0031	184	c.484 others(197): Show c.484-82_484-81insCCTTACAATCCTGTAGGGAATGGGGGACATTC CTTACAATCCTGTAGGGAATGGGGGACATTCCTTACAATCCTGTAGGGAA TGGGGGACATTCCTTACAATCCTGTAGGGAATGGGGGACATTCCTTACAA TCCTAGGGAATGGGGGACATTCCTTACAATCCTCTAGGGAATGGGGGACA TT	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	3/32			chr11	TogoVar
CABCOCO1_chr10_61657929_61771766	61680478	A A	ATATATAA others(177): Show ATATATAACATATTATATGTTATATTATGTTATATATAACATATTATATG TTATATTATGTTATATATAACATATTATATGTTATATTATGTTATATATA ACATATTATATGTTATATTATGTTATATATAACATATTATATGTTATATT ATGTTATATATAACATATTATATGTTATATTATGT	intron_variant intron_variant	MODIFIER	HG03834.hp1 NA18960.hp2 NA19081.hp1 HG03834.hp1 NA18960.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0361 a0001c0001t0004g0362 a0001c0001t0004g0363 a0001c0001t0004g0361 a0001c0001t0004g0362 a0001c0001t0004g0363	3	374	0.0080	184	c.165 others(199): Show c.165-659_165-658insACATATTATATGTTATATTATGTTATATAT AACATATTATATGTTATATTATGTTATATATAACATATTATATGTTATAT TATGTTATATATAACATATTATATGTTATATTATGTTATATATAACATAT TATATGTTATATTATGTTATATATAACATATTATATGTTATATTATGTTA TATA	CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNA1A_chr19_13201442_13511479	13221224	T T	TTTCTTTT others(177): Show TTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTC TTTCTTTCTTTCTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCCTCTCTCT CTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0012 a0012	a0012c0048 a0012c0048	a0012c0048t0006 a0012c0048t0006	a0012c0048t0006g0154 a0012c0048t0006g0154	1	218	0.0046	184	c.573 others(203): Show c.5731+3442_5731+3443insGAAAGAAAGAAAGAAAGAGAGAGAGA GAGAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAGAA AGAAAGAAAGAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAAGAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13221224	T T	TTTCTTTT others(177): Show TTTCTTTTCTTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTCTTTCTTTCTTTCTC TTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCCTCTCT CTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0013 a0013	a0013c0014 a0013c0014	a0013c0014t0002 a0013c0014t0002	a0013c0014t0002g0048 a0013c0014t0002g0048	1	218	0.0046	184	c.573 others(203): Show c.5731+3442_5731+3443insGAAAGAAAGAAAGAAAGAGAGAGAGA GAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAGAA AGAAAGAAAGAGAAAGAAAGAAAGAAAAGAAAGAAAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAA GAAAAGAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46			chr19	TogoVar
CACNA1B_chr9_137872782_138129619	138126704	G G	GCCCCCGG others(177): Show GCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAG GGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACC GTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAG GCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 NA19065.hp2 HG00544.hp1 NA19065.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0029 a0002c0001t0002 a0002c0001t0029	a0002c0001t0002g0211 a0002c0001t0029g0189 a0002c0001t0002g0211 a0002c0001t0029g0189	2	248	0.0081	184	c.47 others(195): Show c.4705_*4706insCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGA CACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCG CAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCC AGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGC	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding		2086		chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138126945	G G	GCCCCCGG others(177): Show GCCCCCGGCCGCCAGCAGGGGGCGCGAGGCCATGACACCGTGAGCAAGAG GGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCGAGGCCATGACACC GTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCGAG GCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0013 a0013	a0013c0027 a0013c0027	a0013c0027t0024 a0013c0027t0024	a0013c0027t0024g0149 a0013c0027t0024g0149	1	248	0.0040	184	c.49 others(195): Show c.4946_*4947insCCCCCGGCCGCCAGCAGGGGGCGCGAGGCCATGA CACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCG CGAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCC AGCAGGGGGCGCGAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGC	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding		2327		chr9	TogoVar
CACNA1I_chr22_39565753_39694735	39596382	T T	TGGGGGGC others(177): Show TGGGGGGCAGGGCGGAGGGAGATGGGGGGGCAGGGCGGAGGGAGATGGGG GAGCAGGGCGGAGAGAGATGGGGGAGCAGGGCGGAGAGAGATGGGGGAGC AGGGCGGAGAGAGATGGGGGAGCAGGGCGGAGAGAGATGGGGGGGCAGGG CGGAGGGAGATGGGGGGGCAGGGCGGAGGGAGATC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03195.hp2 HG03041.hp1 HG03195.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0001 a0002c0013t0029 a0002c0013t0001 a0002c0013t0029	a0002c0013t0001g0140 a0002c0013t0029g0164 a0002c0013t0001g0140 a0002c0013t0029g0164	2	236	0.0085	184	c.237 others(201): Show c.237-1764_237-1763insGCAGGGCGGAGGGAGATGGGGGGGCAGG GCGGAGGGAGATGGGGGAGCAGGGCGGAGAGAGATGGGGGAGCAGGGCGG AGAGAGATGGGGGAGCAGGGCGGAGAGAGATGGGGGAGCAGGGCGGAGAG AGATGGGGGGGCAGGGCGGAGGGAGATGGGGGGGCAGGGCGGAGGGAGAT CGGGGG	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA2D1_chr7_81941444_82448777	82173631	T T	TAAAATAC others(177): Show TAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTCGTCCCA GCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0023 a0001c0001t0008g0023	1	144	0.0069	184	c.295 others(201): Show c.295-3023_295-3022insTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACGACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTG TATTTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D2_chr3_50357613_50508634	50480935	G G	GAAGTGGG others(177): Show GAAGTGGGAGGAAGGGGGAGGAAATGGGAGGAAGGGGGGGAAGCGGGAGG AAGGGGGAGGAAGGGGGGAAGCGGGAGGAAGGGGGGGGAAGTGGGAGGAA GTGGGAGGAAGGGGGAGGAAGGGGGAGGAAGGGGGGGAAGCGGGAGGAAG GGGAAGGAAGGGGGAGGAAGGGGGTAAGGGGGGGT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	234	0.0043	184	c.207 others(201): Show c.207-4737_207-4736insACCCCCCCTTACCCCCTTCCTCCCCCTT CCTTCCCCTTCCTCCCGCTTCCCCCCCTTCCTCCCCCTTCCTCCCCCTTC CTCCCACTTCCTCCCACTTCCCCCCCCTTCCTCCCGCTTCCCCCCTTCCT CCCCCTTCCTCCCGCTTCCCCCCCTTCCTCCCATTTCCTCCCCCTTCCTC CCACTT	CACNA2D2	ENSG00000007402.12	transcript	ENST00000424201.7	protein_coding	1/37			chr3	TogoVar
CACNA2D2_chr3_50357613_50508634	50480935	G G	GAAGTGGG others(177): Show GAAGTGGGAGGAAGGGGGAGGAAATGGGAGGAAGGGGGGGAAGCGGGAGG AAGGGGGAGGAAGGGGGGAAGCGGGAGGAAGGGGGGGGAAGTGGGAGGAA GTGGGAGGAAGGGGGGGGAAGGGGGAGGAAGGGGGGAAGCGGGAGGAAGG GGAAGGAAGGGGGAGGAAGGGGGTAAGGGGGGGGT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	234	0.0043	184	c.207 others(201): Show c.207-4737_207-4736insACCCCCCCCTTACCCCCTTCCTCCCCCT TCCTTCCCCTTCCTCCCGCTTCCCCCCTTCCTCCCCCTTCCCCCCCCTTC CTCCCACTTCCTCCCACTTCCCCCCCCTTCCTCCCGCTTCCCCCCTTCCT CCCCCTTCCTCCCGCTTCCCCCCCTTCCTCCCATTTCCTCCCCCTTCCTC CCACTT	CACNA2D2	ENSG00000007402.12	transcript	ENST00000424201.7	protein_coding	1/37			chr3	TogoVar
CACNA2D2_chr3_50357613_50508634	50480935	G G	GAAGTGGG others(177): Show GAAGTGGGAGGAAGGGGGAGGAAATGGGAGGAAGGGGGGGAAGCGGGAGG AAGGGGGAGGAAGGGGGGGAAGCGGGAGGAAGGGGGGGGAAGTGGGAGGA AGTGGGAGGAAGGGGGAGGAAGGGGGAGGAAGGGGGGAAGCGGGAGGAAG GGGAAGGAAGGGGGAGGAAGGGGGTAAGGGGGGGT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	234	0.0043	184	c.207 others(201): Show c.207-4737_207-4736insACCCCCCCTTACCCCCTTCCTCCCCCTT CCTTCCCCTTCCTCCCGCTTCCCCCCTTCCTCCCCCTTCCTCCCCCTTCC TCCCACTTCCTCCCACTTCCCCCCCCTTCCTCCCGCTTCCCCCCCTTCCT CCCCCTTCCTCCCGCTTCCCCCCCTTCCTCCCATTTCCTCCCCCTTCCTC CCACTT	CACNA2D2	ENSG00000007402.12	transcript	ENST00000424201.7	protein_coding	1/37			chr3	TogoVar
CACNA2D2_chr3_50357613_50508634	50480935	G G	GAAGTGGG others(177): Show GAAGTGGGAGGAAGGGGGAGGAAATGGGAGGAAGGGGGGGGAAGCGGGAG GAAGGGGGAGGAAGGGGGGAAGCGGGAGGAAGGGGGGGGAAGTGGGAGGA AGTGGGAGGAAGGGGGAGGAAGGGGGAGGAAGGGGGGAAGCGGGAGGAAG GGGAAGGAAGGGGGAGGAAGGGGGTAAGGGGGGGT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02258.hp1 HG03516.hp1 HG01496.hp1 HG02258.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0118 a0001c0001t0001g0183 a0001c0001t0001g0080 a0001c0001t0001g0118 a0001c0001t0001g0183	3	234	0.0128	184	c.207 others(201): Show c.207-4737_207-4736insACCCCCCCTTACCCCCTTCCTCCCCCTT CCTTCCCCTTCCTCCCGCTTCCCCCCTTCCTCCCCCTTCCTCCCCCTTCC TCCCACTTCCTCCCACTTCCCCCCCCTTCCTCCCGCTTCCCCCCTTCCTC CCCCTTCCTCCCGCTTCCCCCCCCTTCCTCCCATTTCCTCCCCCTTCCTC CCACTT	CACNA2D2	ENSG00000007402.12	transcript	ENST00000424201.7	protein_coding	1/37			chr3	TogoVar
CACNG6_chr19_53986637_54017666	53990637	T T	TCCAGGCC others(177): Show TCCAGGCCCCAGCACCTCCTCCTTCAGACACAGGAGTTCAGGCCCCCAGC CCCTCCTCCCTCAGACTCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCA GACTCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACTCAGGAGCCC AGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0026 a0001c0001t0005g0026	1	430	0.0023	184	c.-22 others(195): Show c.-2241_-2240insCCAGGCCCCAGCACCTCCTCCTTCAGACACAGGA GTTCAGGCCCCCAGCCCCTCCTCCCTCAGACTCAGGAGCCCAGGCCCCCA GCCCCTCCTCCCTCAGACTCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCT CAGACTCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGC	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding		999		chr19	TogoVar
CACNG8_chr19_53957937_53995215	53990637	T T	TCCAGGCC others(177): Show TCCAGGCCCCAGCACCTCCTCCTTCAGACACAGGAGTTCAGGCCCCCAGC CCCTCCTCCCTCAGACTCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCA GACTCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACTCAGGAGCCC AGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0075 a0001c0001t0016g0075	1	394	0.0025	184	c.77 others(195): Show c.7788_*7789insCCAGGCCCCAGCACCTCCTCCTTCAGACACAGGA GTTCAGGCCCCCAGCCCCTCCTCCCTCAGACTCAGGAGCCCAGGCCCCCA GCCCCTCCTCCCTCAGACTCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCT CAGACTCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGC	CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding		423		chr19	TogoVar
CALCOCO2_chr17_48826035_48870245	48858050	A A	AGAATAGA others(177): Show AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAAT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0061 a0002c0003t0001g0061	1	328	0.0031	184	c.100 others(203): Show c.1008+1887_1008+1888insAGAATAGAATAGAATAGAATAGAATA GAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATA GAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATA GAATAGAATAGAATAGAATAGAATAGAATAGAATGAATAGAATAGAATAG AATAGAAT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALD1_chr7_134774634_134975729	134929621	C C	CACACACA others(177): Show CACACACATATATGTATGTGTATATACACACACATATATGTATGTGTATA TACACACACATATATGTATGTGTATATACACACACATATATGTATGTGTA TATACACACACATATATGTATGTGTATATATACACACATATATGTGTGTG TATATATACACACACATATACACACACGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0176 a0002c0003t0001g0176	1	262	0.0038	184	c.218 others(199): Show c.218+721_218+722insACACACATATATGTATGTGTATATACACAC ACATATATGTATGTGTATATACACACACATATATGTATGTGTATATACAC ACACATATATGTATGTGTATATACACACACATATATGTATGTGTATATAT ACACACATATATGTGTGTGTATATATACACACACATATACACACACGTGT GTGT	CALD1	ENSG00000122786.20	transcript	ENST00000361675.7	protein_coding	4/14			chr7	TogoVar
CALD1_chr7_134774634_134975729	134929621	C C	CACACACA others(177): Show CACACACATATATGTATGTGTATATACACACACATATATGTGTGTGTATA TACACACACATATATGTGTGTGTATATACACACACATATATGTGTGTGTA TATACACACACATATATGTGTGTGTATATACACACACATATATGTATGTG TATATATACACACACATATACACACACGTGTGTGT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0217 a0002c0002t0002g0217	1	262	0.0038	184	c.218 others(199): Show c.218+721_218+722insACACACATATATGTATGTGTATATACACAC ACATATATGTGTGTGTATATACACACACATATATGTGTGTGTATATACAC ACACATATATGTGTGTGTATATACACACACATATATGTGTGTGTATATAC ACACACATATATGTATGTGTATATATACACACACATATACACACACGTGT GTGT	CALD1	ENSG00000122786.20	transcript	ENST00000361675.7	protein_coding	4/14			chr7	TogoVar
CALD1_chr7_134774634_134975729	134929621	C C	CACACACA others(177): Show CACACACATATATGTATGTGTATATACACACACATATATGTGTGTGTATA TACACACACATATATGTGTGTGTATATACACACACATATATGTGTGTGTA TATACACACACATATATGTGTGTGTATATATACACACACATATATGTGTG TGTATATATACACACACATATACACACACGTGTGT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0037 a0002c0003t0001g0037	1	262	0.0038	184	c.218 others(199): Show c.218+721_218+722insACACACATATATGTATGTGTATATACACAC ACATATATGTGTGTGTATATACACACACATATATGTGTGTGTATATACAC ACACATATATGTGTGTGTATATACACACACATATATGTGTGTGTATATAT ACACACACATATATGTGTGTGTATATATACACACACATATACACACACGT GTGT	CALD1	ENSG00000122786.20	transcript	ENST00000361675.7	protein_coding	4/14			chr7	TogoVar
CALD1_chr7_134774634_134975729	134929621	C C	CACACACA others(177): Show CACACACATATATGTATGTGTATATACACACACATATATGTGTGTGTATA TACACACATATATGTGTGTGTATATACACACACATATATGTGTGTGTATA TACACACACATATATGTGTGTGTATATACACACACATATATGTATGTGTA TATATACACACACATATACACACACGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0146 a0002c0002t0003g0146	1	262	0.0038	184	c.218 others(199): Show c.218+721_218+722insACACACATATATGTATGTGTATATACACAC ACATATATGTGTGTGTATATACACACATATATGTGTGTGTATATACACAC ACATATATGTGTGTGTATATACACACACATATATGTGTGTGTATATACAC ACACATATATGTATGTGTATATATACACACACATATACACACACGTGTGT GTGT	CALD1	ENSG00000122786.20	transcript	ENST00000361675.7	protein_coding	4/14			chr7	TogoVar
CALD1_chr7_134774634_134975729	134929621	C C	CACACACA others(177): Show CACACACATATATGTGTGTGTATATACACACACATATATGTGTGTGTATA TACACACACATATATGTGTGTGTATATACACACACATATATGTGTGTGTA TATACACACACATATATGTATGTGTATATATACACACATATATGTATGTG TATATATACACACACATATACACACACGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0012 a0002c0002t0002g0012	1	262	0.0038	184	c.218 others(199): Show c.218+721_218+722insACACACATATATGTGTGTGTATATACACAC ACATATATGTGTGTGTATATACACACACATATATGTGTGTGTATATACAC ACACATATATGTGTGTGTATATACACACACATATATGTATGTGTATATAT ACACACATATATGTATGTGTATATATACACACACATATACACACACGTGT GTGT	CALD1	ENSG00000122786.20	transcript	ENST00000361675.7	protein_coding	4/14			chr7	TogoVar
CALN1_chr7_71774491_72417338	72106698	G G	GAGGAAGG others(177): Show GAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGAAGGA GGGAGGAAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGAAGGGAGGGAGG GAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGA GGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0001 a0001c0001t0022g0001	1	142	0.0070	184	c.245 others(199): Show c.245-405_245-404insTCCTCCCTCCCTTCCTTCCTCCCTCCCTTC CTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCT TCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTC CTCCCTCCTTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCT TCCT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CAMK1D_chr10_12344547_12840545	12694218	A A	ATATATAA others(177): Show ATATATAATATATATTATATATTATATAATATATAATATATATTATATAT TATATAATATATAATATATATTATATATTATATAATATATAATATATATT ATATATTATATAATATATAATATATATTATATATTATATAATATATAATA TATATTTTATATAATATAAAATATATATTATGTAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02922.hp2 HG02717.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0044 a0001c0001t0002 a0001c0002t0044	a0001c0001t0002g0032 a0001c0002t0044g0112 a0001c0001t0002g0032 a0001c0002t0044g0112	2	214	0.0094	184	c.299 others(203): Show c.299+27408_299+27409insTATATAATATATATTATATATTATAT AATATATAATATATATTATATATTATATAATATATAATATATATTATATA TTATATAATATATAATATATATTATATATTATATAATATATAATATATAT TATATATTATATAATATATAATATATATTTTATATAATATAAAATATATA TTATGTAT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10			chr10	TogoVar
CAPN11_chr6_44153820_44189401	44181474	T T	TACACAAC others(177): Show TACACAACCACACCACACACACACACACACACTCACATACAGACACAACC ACACCACACACACACACACTCACATACACAACCACACTCACACACACACA CACACACAGACACAACCACACCACACACACACACACTCACATACAGACAC AACCACACCACACTCACTCACACACATACACACTC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00639.hp2 HG00735.hp2 others(14): Show HG00621.hp1 HG00639.hp2 HG00735.hp2 HG00738.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01255.hp2 HG01361.hp1 HG01516.hp2 HG01934.hp2 HG02027.hp1 HG02129.hp2 HG03927.hp2 NA18982.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0027 a0002c0002 a0001c0001 a0001c0027 a0002c0002	a0001c0001t0001 a0001c0027t0001 a0002c0002t0001 a0001c0001t0001 a0001c0027t0001 a0002c0002t0001	a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0046 others(14): Show a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0046 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0177 a0001c0001t0001g0217 a0001c0001t0001g0222 a0001c0001t0001g0295 a0001c0001t0001g0299 a0001c0001t0001g0347 a0001c0001t0001g0351 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0367 a0001c0027t0001g0179 a0002c0002t0001g0371	17	460	0.0370	184	c.193 others(201): Show c.1938+157_1938+158insCAACCACACCACACACACACACACACAC TCACATACAGACACAACCACACCACACACACACACACTCACATACACAAC CACACTCACACACACACACACACACAGACACAACCACACCACACACACAC ACACTCACATACAGACACAACCACACCACACTCACTCACACACATACACA CTCACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44181474	T T	TACACAAC others(177): Show TACACAACCACACCACACACACACACACACTCACATACAGACACAACCAC ACCACACACACACACACACTCACATACACAACCACACTCACACACACACA CACACACAGACACAACCACACCACACACACACACACTCACATACAGACAC AACCACACCACACTCACTCACACACATACACACTC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0115 a0005c0010t0001g0127 a0005c0010t0001g0115 a0005c0010t0001g0127	2	460	0.0044	184	c.193 others(201): Show c.1938+157_1938+158insCAACCACACCACACACACACACACACTC ACATACAGACACAACCACACCACACACACACACACACTCACATACACAAC CACACTCACACACACACACACACACAGACACAACCACACCACACACACAC ACACTCACATACAGACACAACCACACCACACTCACTCACACACATACACA CTCACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44182049	A A	ACACATAC others(177): Show ACACATACACACTCACATACAGACACAACCACACCACACTCACACATACA CACTCACATACAGACACAACCACACCACACTCACACACACACACTCACAT ACAGACACAACCACACCACACTCACACACACACACACTCACATACAGACA CAACCACACCACACTCACACACACACATACACACT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0386 a0001c0001t0001g0386	1	460	0.0022	184	c.193 others(201): Show c.1938+737_1938+738insCACTCACATACAGACACAACCACACCAC ACTCACACATACACACTCACATACAGACACAACCACACCACACTCACACA CACACACTCACATACAGACACAACCACACCACACTCACACACACACACAC TCACATACAGACACAACCACACCACACTCACACACACACATACACACTCA CATACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44182252	C C	CCACACAC others(177): Show CCACACACACACACACATACACACTCACATAGACACAACCACACCACACT CACACACACATACACACTCACATACAGACACAACCACACCACACTCACAC ACACACATACACACTCACATACAGACACAACCACACCACACTCACACACA CACACACTCACATACAGACACAACCACACCACACA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp1 HG02622.hp1 others(1): Show HG01884.hp1 HG02145.hp1 HG02622.hp1 HG02818.hp1	a0003 a0008 a0003 a0008	a0003c0003 a0008c0008 a0003c0003 a0008c0008	a0003c0003t0002 a0008c0008t0002 a0003c0003t0002 a0008c0008t0002	a0003c0003t0002g0313 a0003c0003t0002g0378 a0003c0003t0002g0380 others(1): Show a0003c0003t0002g0313 a0003c0003t0002g0378 a0003c0003t0002g0380 a0008c0008t0002g0302	4	460	0.0087	184	c.193 others(201): Show c.1939-669_1939-668insCACTCACATAGACACAACCACACCACAC TCACACACACATACACACTCACATACAGACACAACCACACCACACTCACA CACACACATACACACTCACATACAGACACAACCACACCACACTCACACAC ACACACACTCACATACAGACACAACCACACCACACACACACACACACACA CATACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN12_chr19_38725192_38749474	38736581	A A	AAGGGGCG others(177): Show AAGGGGCGTCGGGGCAGGGGAGAGAGGGGCGTCGGGGCAGGGGAGAGAGG GGCGTCGGGGCAGGGGAGAGAGGGGCGTCGGGGCAGGGGAGAGAGGGGCG TCGGGGCAGGGGAGAGAGGGGCGTCGGGGCAGGGGAGAGAGGGGCGTCGG GGCAGGGGAGAGAGGGGCGTCGGGGCAGGGGAGAG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01123.hp2 HG01975.hp2 others(6): Show HG01099.hp1 HG01123.hp2 HG01975.hp2 HG03041.hp2 HG04115.hp2 NA18522.hp1 NA18966.hp2 NA19030.hp1 NA20905.hp2	a0003 a0013 a0003 a0013	a0003c0005 a0013c0019 a0003c0005 a0013c0019	a0003c0005t0004 a0013c0019t0004 a0003c0005t0004 a0013c0019t0004	a0003c0005t0004g0022 a0003c0005t0004g0023 a0003c0005t0004g0028 others(6): Show a0003c0005t0004g0022 a0003c0005t0004g0023 a0003c0005t0004g0028 a0003c0005t0004g0032 a0003c0005t0004g0033 a0003c0005t0004g0034 a0003c0005t0004g0035 a0003c0005t0004g0036 a0013c0019t0004g0039	9	342	0.0263	184	c.136 others(199): Show c.1363-19_1363-18insCTCTCCCCTGCCCCGACGCCCCTCTCTCCC CTGCCCCGACGCCCCTCTCTCCCCTGCCCCGACGCCCCTCTCTCCCCTGC CCCGACGCCCCTCTCTCCCCTGCCCCGACGCCCCTCTCTCCCCTGCCCCG ACGCCCCTCTCTCCCCTGCCCCGACGCCCCTCTCTCCCCTGCCCCGACGC CCCT	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	10/20			chr19	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(177): Show CCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCTCC TCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTC CTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	410	0.0024	184	c.-22 others(195): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(177): Show CCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCTCC TCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTC CTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	1	410	0.0024	184	c.-22 others(195): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(177): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCTCC TCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTC CTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp1 NA19000.hp1 NA19067.hp2 others(1): Show NA18940.hp1 NA19000.hp1 NA19067.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001	a0001c0001t0002g0094 a0001c0001t0003g0145 a0002c0002t0001g0005 others(1): Show a0001c0001t0002g0094 a0001c0001t0003g0145 a0002c0002t0001g0005 a0002c0002t0001g0133	4	410	0.0098	184	c.-22 others(195): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(177): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCTCC TCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTC CTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp2 NA18973.hp2 NA18968.hp2 NA18973.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0003g0045 a0002c0002t0001g0127 a0001c0001t0003g0045 a0002c0002t0001g0127	2	410	0.0049	184	c.-22 others(195): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(177): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCTCC TCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTC CTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0019 a0001c0001t0003g0019	1	410	0.0024	184	c.-22 others(195): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC6_chr10_59783747_59911556	59882003	T T	TGGGGGGA others(177): Show TGGGGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGCG GGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGA AGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGA AAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0057 a0001c0001t0029g0057	1	288	0.0035	184	c.303 others(203): Show c.303+24118_303+24119insGCGGCTTTCCTTTCCTTCTCCCCGCG GCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCGCCGGCTT TCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTT CCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTT CTCCCCCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC88A_chr2_55282842_55424856	55384523	A A	ATATATGC others(177): Show ATATATGCGTATATACACATATATACGTATATATGCGTATATATACACAT ATATACGTATATATGCGTATATATACGCATATATACGTATATATGCGTAT ATATACATATATACGTATATATGCGTATATATACGCATATATACGTATAT ATGCGTATATATACGCATATATACGTATATATGCG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0098 a0001c0001t0011g0098	1	316	0.0032	184	c.273 others(201): Show c.273+4254_273+4255insCGCATATATACGTATATATGCGTATATA TACGCATATATACGTATATATGCGTATATATACGCATATATACGTATATA TGTATATATACGCATATATACGTATATATGCGTATATATACGCATATATA CGTATATATGTGTATATATACGCATATATACGTATATATGTGTATATACG CATATA	CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	3/32			chr2	TogoVar
CCR9_chr3_45881543_45908174	45890306	T T	TATATATA others(177): Show TATATATATTTATATAAATATATATATAACATATATATATTTATATAAAT ATATATATAACATATATATATTTATATAAATATATATATAACATATATAT ATTTATATAAATATATATATAACATATATATATTTATATAAATATATATA TAACATATATATATTTATATAAATATATATATAAC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02148.hp2 HG00609.hp1 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0012t0001 a0001c0001t0001 a0001c0012t0001	a0001c0001t0001g0106 a0001c0012t0001g0071 a0001c0001t0001g0106 a0001c0012t0001g0071	2	424	0.0047	184	c.-29 others(201): Show c.-29+3659_-29+3660insTTATATAAATATATATATAACATATATA TATTTATATAAATATATATATAACATATATATATTTATATAAATATATAT ATAACATATATATATTTATATAAATATATATATAACATATATATATTTAT ATAAATATATATATAACATATATATATTTATATAAATATATATATAACAT ATATAT	CCR9	ENSG00000173585.18	transcript	ENST00000357632.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar

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