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
CFAP61_chr20_20047532_20365698	20337583	T T	TAGATGGA others(379): Show TAGATGGATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATG GACAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGG TGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATG GATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGG TGGATGGATGGATGGATAGATGGGTGGATGGATGGATGGATGGATGGATG GATAGATGGATGGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGG TGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATG GGTGGGTGGATGGATGGATGGATAGATGGATAGATGG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02896.hp2 HG02897.hp1 HG02723.hp1 HG02896.hp2 HG02897.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0003 a0002c0009t0002 a0002c0009t0003	a0002c0009t0002g0104 a0002c0009t0002g0106 a0002c0009t0003g0107 a0002c0009t0002g0104 a0002c0009t0002g0106 a0002c0009t0003g0107	3	6	0.5000	386	c.342 others(405): Show c.3423-4248_3423-4247insAGATGGATAGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGACAGATGGGTGGGTGGATGGATGGAT GGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAG ATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGAT GGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGG ATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGGTGGGTGGAT GGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGG GTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGAT GGATAGATGG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26			chr20	TogoVar
CNOT1_chr16_58514951_58634826	58586394	C C	CAGGGGGA others(379): Show CAGGGGGAGGGGAAGGGGGAGGGCAGGGGGAGGGGAGGGGGAGGGGAAGG GGAGGGCAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGAAGGG CAGGGGAGGGGGAGGGGGACTGGAGGGGAGGGGACGGGAGGGGGGGAGGG GGAGGGGAGGGGGGACTGGAGGGGAGGGGAGGGGAAGGGGAAGGGAAGGG GAGGGGAAGGGGATGGGAGGGGAAGGGGAGGAGAGGGAGAGGGGAAGGGG AGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGAAGGGGAGGGAAGGGGAGG GGAAGGGGAAGGGAAGGGGAGGGAAGGGAAGGGGAAGGGAAGGGGAGGGA AGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0131 a0001c0002t0001g0131	1	189	0.0053	386	c.637 others(401): Show c.637+150_637+151insTCCCCTCCCCTCCCCTCCCCTTCCCCTCCC CTCCCCTTCCCTCCCCTTCCCTTCCCCTTCCCTTCCCTCCCCTTCCCTTC CCCTTCCCCTCCCCTTCCCTCCCCTTCCCTCCCCTTCCCCTCCCCTTCCC CTCCCCTCCCCTTCCCCTCTCCCTCTCCTCCCCTTCCCCTCCCATCCCCT TCCCCTCCCCTTCCCTTCCCCTTCCCCTCCCCTCCCCTCCAGTCCCCCCT CCCCTCCCCCTCCCCCCCTCCCGTCCCCTCCCCTCCAGTCCCCCTCCCCC TCCCCTGCCCTTCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCT GCCCTCCCCTTCCCCTCCCCCTCCCCTCCCCCTGCCCTCCCCCTTCCCCT CCCCCT	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
CNOT1_chr16_58514951_58634826	58586399	G G	GGAGGGGA others(379): Show GGAGGGGAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGG CAGGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGG GAGGGCAGGGGGAGGGGAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGG AAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGCAGGGGG AGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGAAGGGGAGGGGAAGGGGA TGGGAGGGGAAGGGGAGGAGAGGGAGAGGGGAAGGGGAGGGGAGGGGAAG GGGAAGGGAAGGGGAGGGAAGGGGAGGGAAGGGGAGGGAAGGGAAGGGAA GGGGAGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02896.hp2 HG02622.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0212 a0001c0001t0001g0196 a0001c0001t0001g0212	2	184	0.0109	386	c.637 others(401): Show c.637+145_637+146insTTCCCCTCCCCTCCCCTTCCCCTCCCCTCC CCTCCCCTTCCCTTCCCTTCCCTCCCCTTCCCTCCCCTTCCCTCCCCTTC CCTTCCCCTTCCCCTCCCCTCCCCTTCCCCTCTCCCTCTCCTCCCCTTCC CCTCCCATCCCCTTCCCCTCCCCTTCCCTTCCCCTCCCCCTGCCCTCCCC TTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCCTGCCC TCCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTCCCCTCCCCC TGCCCTCCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCTTCCCCT CCCCCTGCCCTCCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCT CCCCTC	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
CNOT3_chr19_54132762_54160681	54133748	T T	TTCTCTCC others(379): Show TTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCT CTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCC CTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCC CTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTC TCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACC TCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTC CCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTC TCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0028 a0001c0002t0001g0028	1	108	0.0093	386	c.-42 others(397): Show c.-4296_-4295insTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCT CCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCT CCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCC CTCTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCT CTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACC TTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCC CTCTCTCTGTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTC CACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTC CC	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		4013		chr19	TogoVar
COL18A1_chr21_45400165_45518720	45501954	C C	CTCCACAG others(379): Show CTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACA GCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTC ACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCC TCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAG AAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACC CCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGG GCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAA AGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0100 a0002c0100	a0002c0100t0001 a0002c0100t0001	a0002c0100t0001g0116 a0002c0100t0001g0116	1	262	0.0038	386	c.268 others(405): Show c.2684-2057_2684-2056insTCCACAGCCGGTCACCTCCCTCTGCA GAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGAC CCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGG GGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCA AAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGG TCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTC CCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGC AGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGA CCCCCAGGGG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41			chr21	TogoVar
COL21A1_chr6_56051590_56252580	56098440	A A	AATATATA others(379): Show AATATATAAATATATATATAAATATATATAAATATATATAAATATATAAA TATATATATAAATATATATAAATATATAAATATATATATAAATATATATA TAAATATATATAAATATATAAATATATATATAAATATATATAAATATGTA AATATATATATAAATATATATAAATATATAAATATATATAAATATATAAA TATATAAATATATATGTAAATATATAAATATATAAATATATATGTAAATA TATAAATATATATAAATATATATATAAATATATATAAATATATAAATATA TATAAATACATATGTAAATATATAAATATATATAAATATATAAATATATA TAGATATATATGTAAATATATATAAATATATATAGAT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0039 a0001c0001t0009g0039	1	120	0.0083	386	c.181 others(405): Show c.1812+3031_1812+3032insATCTATATATATTTATATATATTTAC ATATATATCTATATATATTTATATATTTATATATATTTATATATTTACAT ATGTATTTATATATATTTATATATTTATATATATTTATATATATATTTAT ATATATTTATATATTTACATATATATTTATATATTTATATATTTACATAT ATATTTATATATTTATATATTTATATATATTTATATATTTATATATATTT ATATATATATTTACATATTTATATATATTTATATATATATTTATATATTT ATATATATTTATATATATATTTATATATATATTTATATATTTATATATAT TTATATATATATTTATATATTTATATATATTTATATATATTTATATATAT ATTTATATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL27A1_chr9_114150537_114317511	114278402	A A	ATGGTGAT others(379): Show ATGGTGATAGTGGGGATGGGAGTGGAGTGGAGGTGAGGGTGATGATGGTG CTGGTGGCAATGGTGATAGTGGGGGTGGGAGTGGAGTGGAGGTGAGGGTG GTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGATGATGATGGT GGTGGTGATGGTGGTGGTGGTTGGTGGTGGTGATGATGATGGCGGGGGTG ATGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGG GGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGG CGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATG ATGGCGGGGGTGGTGGTGGTGATGATGGTGGGGGTGG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02717.hp1 HG02451.hp1 HG02717.hp1	a0012 a0035 a0012 a0035	a0012c0154 a0035c0170 a0012c0154 a0035c0170	a0012c0154t0002 a0035c0170t0032 a0012c0154t0002 a0035c0170t0032	a0012c0154t0002g0007 a0035c0170t0032g0147 a0012c0154t0002g0007 a0035c0170t0032g0147	2	289	0.0069	386	c.371 others(405): Show c.3717+2639_3717+2640insATAGTGGGGATGGGAGTGGAGTGGAG GTGAGGGTGATGATGGTGCTGGTGGCAATGGTGATAGTGGGGGTGGGAGT GGAGTGGAGGTGAGGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGT GGTGGTGATGATGATGGTGGTGGTGATGGTGGTGGTGGTTGGTGGTGGTG ATGATGATGGCGGGGGTGATGGTGGTGATGATGATGGCGGGGGTGGTGGT GGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGG TGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGG GTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGGTGGG GGTGGTGGTG	COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding	37/60		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL27A1_chr9_114150537_114317511	114278402	A A	ATGGTGAT others(379): Show ATGGTGATAGTGGGGGTGGGAGTGGAGTGGAGGTGAGGGTGATGATGGTG CTGGTGGCAATGGTGATAGTGGGGGTGGGAGTGGAGTGGAGGTGAGGGTG GTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGATGATGATGGT GGTGGTGATGGTGGTGGTGGTTGGTGGTGGTGATGATGATGGCGGGGGTG ATGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGG GGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGG CGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATG ATGGCGGGGGTGGTGGTGGTGATGATGGTGGGGGTGG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02809.hp2 HG02145.hp1 HG02809.hp2	a0012 a0018 a0012 a0018	a0012c0155 a0018c0051 a0012c0155 a0018c0051	a0012c0155t0021 a0018c0051t0017 a0012c0155t0021 a0018c0051t0017	a0012c0155t0021g0170 a0018c0051t0017g0056 a0012c0155t0021g0170 a0018c0051t0017g0056	2	289	0.0069	386	c.371 others(405): Show c.3717+2639_3717+2640insATAGTGGGGGTGGGAGTGGAGTGGAG GTGAGGGTGATGATGGTGCTGGTGGCAATGGTGATAGTGGGGGTGGGAGT GGAGTGGAGGTGAGGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGT GGTGGTGATGATGATGGTGGTGGTGATGGTGGTGGTGGTTGGTGGTGGTG ATGATGATGGCGGGGGTGATGGTGGTGATGATGATGGCGGGGGTGGTGGT GGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGG TGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGG GTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGGTGGG GGTGGTGGTG	COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding	37/60		INFO_REALIGN_3_PRIME	chr9	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCGTCT others(379): Show CTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCG TCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCC CCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCT CTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCG TCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCC CCTCTCTCCCTCTCCCTTCTCTCCCTCTCCCCTCTCTCCCTCTCCCTCTC CCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTC TCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0260 a0001c0004t0001g0260	1	21	0.0476	386	c.510 others(405): Show c.510+24113_510+24114insTCCGTCTCCCCTCTCTCCGTCTCCCC TCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCT CCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTC TCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCC TCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCT CCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCCTCTCCCTTCTCTCCCTC TCCCCTCTCTCCCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCT CTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCC CTCTCTCCCT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
CSMD1_chr8_2930361_4999914	3558603	T T	TGTCCACT others(379): Show TGTCCACTCCTGCAATGATGAATGGTGTCTCAATGGTACCCCGTGTCCAC TCCTGCAATGATGAATGGTGCCTCAATAGTACCCCGTGTCCACTCCTCCA ATGATGAATGGTGCCTCAATGGTACCCCGTGTCCACTCCTGCAATGATGA ATGGTGCCTCAATAGTACCCCGTGTCCACTCCTCCAATGATGAATGGTGC CTCAGTAGTACCCCGTGTCCACTCCTCCAATGATGAACGGTGCCTCAATG GTACCCCGTGTCCACTCCTGCAATGATGAATAGTGTCTCAATAGTACCCC ATGTCCACTCCTCCAATGATGAACGGTACCTCAATGGTACCCCATGTCGA CTCCTCCAACAATGAACGGTGTCTCAATGGTACCCCG	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0003 a0003	a0003c0087 a0003c0087	a0003c0087t0001 a0003c0087t0001	a0003c0087t0001g0022 a0003c0087t0001g0022	1	126	0.0079	386	c.134 others(407): Show c.1344+16341_1344+16342insCGGGGTACCATTGAGACACCGTTC ATTGTTGGAGGAGTCGACATGGGGTACCATTGAGGTACCGTTCATCATTG GAGGAGTGGACATGGGGTACTATTGAGACACTATTCATCATTGCAGGAGT GGACACGGGGTACCATTGAGGCACCGTTCATCATTGGAGGAGTGGACACG GGGTACTACTGAGGCACCATTCATCATTGGAGGAGTGGACACGGGGTACT ATTGAGGCACCATTCATCATTGCAGGAGTGGACACGGGGTACCATTGAGG CACCATTCATCATTGGAGGAGTGGACACGGGGTACTATTGAGGCACCATT CATCATTGCAGGAGTGGACACGGGGTACCATTGAGACACCATTCATCATT GCAGGAGTGGAC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CUL4A_chr13_113204613_113272108	113232275	T T	TATTACTG others(379): Show TATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTG CCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACC ACTACCTGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTA CTGCTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCC CACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGCTGCCAC CACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATT ACTGTCACCACTACCCGCCCACCACCATTACTGCTGCCACCACTACCCGC CCACCACCATTACTGTCACCACTACCTGCCCACCACC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0142 a0001c0001t0002g0142	1	36	0.0278	386	c.513 others(401): Show c.513-895_513-894insTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACC ATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCTGC CCACCACCATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCA CCACTACCTGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCAT TACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTG CCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGCTGCC ACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCA TTACTG	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
DCDC2_chr6_24166755_24363059	24238179	A A	AGGGAGGA others(379): Show AGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAGGAAT GGAGGGAGGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGAGGG GAGGGGGAGGGGAGTGGAAGGGTGAGGGGAGGGGGAGGGGAGTGGAAGGG GGAGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAG GGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAG GGGGGAGGGGGAGGGGAGGGGAAGGGGAGGGGGAGGGGAGGGGGAGGGGA AGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0147 a0002c0002t0003g0147	1	197	0.0051	386	c.923 others(405): Show c.923-33078_923-33077insCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCTTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCTCCCCT CCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTC CCCTCCCCTCCCCCTTCCACTCCCCTCCCCCTCCCCTCACCCTTCCACTC CCCTCCCCCTCCCCTCCCCCTCCCCATCCCTCCATTCCTCCATTCCTCCC TCCCTCCCTCCATTCCTTCCTCCCTCCCTCCCTTCATTCCTCCCTCCCTC CCTTCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DIP2C_chr10_269201_694668	478176	G G	GAAGAAGG others(379): Show GAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAGA AGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGGGGA GGGGAGAAGAAGGGAGGGGAGAGGAGGGGAGGGGAGAAGAAGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGAAGGGAGGGGAGGGGAGAAGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGAAGGGAGGGGAGGGGAGGGGAGGGG AGAAGAAGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGGGG AGGGGAGAAGAAGGGAGGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGG AGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAGAA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0087 a0001c0005t0002g0087	1	52	0.0192	386	c.158 others(403): Show c.158-5628_158-5627insTTCTTCTCCCCTCCCTTCTTCTCCCCTC CCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCCTCCCCTCCCTTC TTCTCCCCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCCTC CCTTCTTCTCCCCTCCCCTCCCCTCCCCTCCCTTCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCTTCTCCCCTCCCCTCCCTTCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCCTCCTCTCCCCTCCCTT CTTCTCCCCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCTTCTTCT CCCCTCCCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCTTCTTCTCCCCT CCCTTCTT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DIP2C_chr10_269201_694668	608535	A A	ACCCCCCC others(379): Show ACCCCCCCCCCACACCCCCCCACACACACACACACACACACCCCCCCCAC ACACACACACACACACCCCCCCCACACACACACACACCCCCCCCACACAC ACACACACACCCCCCCACACACACACACCCCCCCCACACACACCCCCCCC CCCACACACACCCCCCCCCACACACACACACACCCCCCACACACACACAC CCCCCCCCACACACACACACCCCCCCACACACACACACCCCCCCCACACA CACCCCCCCCCCACACACACACCCCCCCCCACACACACACACATCCCCCC CCACACACACACACATCCCCCCCCCACACACACACACATCCCCCCCCCAC ACACACACACATCCCCCCCCCACACACACACACATCC	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0050 a0001c0003t0002g0050	1	36	0.0278	386	c.85+ others(403): Show c.85+80958_85+80959insGGATGTGTGTGTGTGTGGGGGGGGGATG TGTGTGTGTGTGGGGGGGGGATGTGTGTGTGTGTGGGGGGGGGATGTGTG TGTGTGTGGGGGGGGATGTGTGTGTGTGTGGGGGGGGGTGTGTGTGTGGG GGGGGGGTGTGTGTGGGGGGGGTGTGTGTGTGTGGGGGGGTGTGTGTGTG TGGGGGGGGGTGTGTGTGTGTGGGGGGTGTGTGTGTGTGTGGGGGGGGGT GTGTGTGGGGGGGGGGGTGTGTGTGGGGGGGGTGTGTGTGTGTGGGGGGG TGTGTGTGTGTGTGTGGGGGGGGTGTGTGTGTGTGTGGGGGGGGTGTGTG TGTGTGTGTGTGGGGGGGGTGTGTGTGTGTGTGTGTGTGGGGGGGTGTGG GGGGGGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DNAI7_chr12_25103289_25200160	25174371	G G	GATATATA others(379): Show GATATATATATGATATATATATCCCATATATATGATATATATATGATATA TATATCCCATATATATGATATATATATGATATATATATCCCATATATATG ATATATATGATATATATATCATATATATGGGATATATATATATCATATAT ATCATATATATGGGATATATATATCATATATATCATATATATGGGATATA TATATCATATATATATCATATATATGGGATATATATATCATATATATCAT ATATATGGGATATATATATCATATATATCATATATATGGGATATATATAT CATATATATCATATATATGGGATATATATATCATATATATCATATATATG GGATATATATATCATATATATGGGATATATATATCAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	55	0.0182	386	c.22- others(403): Show c.22-13175_22-13174insATGATATATATATCCCATATATATGATA TATATATCCCATATATATGATATATATGATATATATATCCCATATATATG ATATATATGATATATATATCCCATATATATGATATATATGATATATATAT CCCATATATATGATATATATGATATATATATCCCATATATATGATATATA TATGATATATATATCCCATATATATGATATATATGATATATATATCCCAT ATATATGATATATATGATATATATATATCCCATATATATGATATATATAT CATATATATCATATATATGGGATATATATATCATATATATATCATATATA TGGGATATATATATCATATATATATCATATATATGGGATATATATATCAT ATATATAT	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	2/15			chr12	TogoVar
DPYSL2_chr8_26509031_26663175	26556265	A A	ATATATAC others(379): Show ATATATACTATATATATAGTATATATATAGTATATATATAGTATATATAT AGTATATATATAGTATATATATACTATATATATAGTATATATATATAGTA TATATATAGTATATATATAGTATATATATAGTATATATATAGTATATATA TAGTATATATATAGTATATATATAGTATATATATAGTATATATATATAGT ATATATATAGTATATATATAGTATATATATATAGTATATATATAGTATAT ATATATAGTGTATATATATAGTATATATATATAGTGTATATATATAGTAT ATATATAGTATATATATAGTATATATAGTATATATGTATATATATATAGT ATATATATAGTATATATATATAGTATATATATAGTAT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0152 a0001c0002t0001g0152	1	169	0.0059	386	c.355 others(405): Show c.355-25704_355-25703insTATATACTATATATATAGTATATATA TAGTATATATATAGTATATATATAGTATATATATAGTATATATATACTAT ATATATAGTATATATATATAGTATATATATAGTATATATATAGTATATAT ATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAGTA TATATATAGTATATATATATAGTATATATATAGTATATATATAGTATATA TATATAGTATATATATAGTATATATATATAGTGTATATATATAGTATATA TATATAGTGTATATATATAGTATATATATAGTATATATATAGTATATATA GTATATATGTATATATATATAGTATATATATAGTATATATATATAGTATA TATATAGTAT	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13			chr8	TogoVar
DTD1_chr20_18583054_18771644	18675842	A A	ATGTTTAC others(379): Show ATGTTTACACATATATATGTAAATATACCTATGTGTATGTTTACACATAT ATATGTGTAAATATACCTATGTGTATGTTTACACATATATATGTGTAAAT ATACCTATGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGT ATGTTTACACATATATGTAAATATACCTATGTGTATGTTTACACATATAT GTGTAAATATACCTATGTGTATGTTTACACATATATGTGTAAACATACAT ATATGTGTAAATATACCTGTGTGTATGTTTACACATATATGTGTAAATAT ACCTGTGTGTATGTTTACACATATATATGTGTAAATATACCTGTGTGTAT GTTTACACATATATATGTGTAAATATACCTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0019 a0001c0003t0019	a0001c0003t0019g0156 a0001c0003t0019g0156	1	3	0.3333	386	c.477 others(405): Show c.477+47610_477+47611insGTTTACACATATATATGTAAATATAC CTATGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGTATGT TTACACATATATATGTGTAAATATACCTATGTGTATGTTTACACATATAT ATGTGTAAATATACCTATGTGTATGTTTACACATATATGTAAATATACCT ATGTGTATGTTTACACATATATGTGTAAATATACCTATGTGTATGTTTAC ACATATATGTGTAAACATACATATATGTGTAAATATACCTGTGTGTATGT TTACACATATATGTGTAAATATACCTGTGTGTATGTTTACACATATATAT GTGTAAATATACCTGTGTGTATGTTTACACATATATATGTGTAAATATAC CTGTGTGTGT	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
DYM_chr18_49031387_49465645	49440818	T T	TTATATAA others(379): Show TTATATAATATATGACTATATATTATATATTTATATAATATATGACTATA TATTATATATTTATATAATATATGACTATATATTATATATTTATATAATA TATGACTATATATTATATATTTATATAATATATGACTATATATTATATAT TTATATAATATATGACTATATATTATATATTTATATAATATATGACTATA TATTATATATTTATATAATATATGACTATATATTATATATTTATATAATA TATGACTATATATTATATATTTATATAATATATTTATATAAATACATTAT ATTTTATATATTTATATAAATACATTATATTTTATATATTTATATAAATA TATTATATTTTATATAATATATATAATATATATAATA	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0196 a0001c0001t0002g0196	1	205	0.0049	386	c.-53 others(405): Show c.-53-10372_-53-10371insTATTATATATATTATATATATTATAT AAAATATAATATATTTATATAAATATATAAAATATAATGTATTTATATAA ATATATAAAATATAATGTATTTATATAAATATATTATATAAATATATAAT ATATAGTCATATATTATATAAATATATAATATATAGTCATATATTATATA AATATATAATATATAGTCATATATTATATAAATATATAATATATAGTCAT ATATTATATAAATATATAATATATAGTCATATATTATATAAATATATAAT ATATAGTCATATATTATATAAATATATAATATATAGTCATATATTATATA AATATATAATATATAGTCATATATTATATAAATATATAATATATAGTCAT ATATTATATA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49440824	A A	AATATATG others(379): Show AATATATGACTATATATTATATATTTATATAATATATGACTATATATTAT ATATTTATATAATATATGACTATATATTATATATTTATATAATATATGAC TATATATTATATATTTATATAATATATGACTATATATTATATATTTATAT AATATATGACTATATATTATATATTTATATAATATATGACTATATATTAT ATATTTATATAATATATGACTATATATTATATATTTATATAATATATGAC TATATATTATATATTTATATAATATATGACTATATATTATATATTTATAT AATATATGACTATATATTATATATTTATATAATATATTTATATAAATACA TTATATTTTATATATTTATATAAATACATTATATTTT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0231 a0001c0001t0003g0231	1	273	0.0037	386	c.-53 others(405): Show c.-53-10378_-53-10377insAAAATATAATGTATTTATATAAATAT ATAAAATATAATGTATTTATATAAATATATTATATAAATATATAATATAT AGTCATATATTATATAAATATATAATATATAGTCATATATTATATAAATA TATAATATATAGTCATATATTATATAAATATATAATATATAGTCATATAT TATATAAATATATAATATATAGTCATATATTATATAAATATATAATATAT AGTCATATATTATATAAATATATAATATATAGTCATATATTATATAAATA TATAATATATAGTCATATATTATATAAATATATAATATATAGTCATATAT TATATAAATATATAATATATAGTCATATATTATATAAATATATAATATAT AGTCATATAT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
EXD3_chr9_137301896_137428162	137322742	G G	GCTCTGCC others(379): Show GCTCTGCCGACACCTCACCCCGGACCAGGGATGCTCTGCCAATACCTCAC CCCAGACCCACGAGGGATGCTCTGTCGACGCCTTGCCCCGGAACCATGAG GGATGCTCTGCCGACACCCCACCCCAGACCCCGAGGAATTCTTTGCCGAC ACCTCACCCCAGACCCACGAGGGATTCTCTGCCGACGCCTCACCCTGGAC CAGGGATGCTCTGCCGACGCCTCACCCCGGACCCACGAGGGATGCTCTGC CGACACCCCACCCCGGACCCACGAGGGATGCTCTGCCGACACCCCACCCC GGAATCATGAGGGATGCTCTGCCGACACCTCACCCCGACCCACGAGGGAT GCTCTGCCGACACCCCACCGCGGACCCACGAGGGATT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0023 a0023	a0023c0024 a0023c0024	a0023c0024t0001 a0023c0024t0001	a0023c0024t0001g0049 a0023c0024t0001g0049	1	64	0.0156	386	c.218 others(403): Show c.2184+982_2184+983insAATCCCTCGTGGGTCCGCGGTGGGGTGT CGGCAGAGCATCCCTCGTGGGTCGGGGTGAGGTGTCGGCAGAGCATCCCT CATGATTCCGGGGTGGGGTGTCGGCAGAGCATCCCTCGTGGGTCCGGGGT GGGGTGTCGGCAGAGCATCCCTCGTGGGTCCGGGGTGAGGCGTCGGCAGA GCATCCCTGGTCCAGGGTGAGGCGTCGGCAGAGAATCCCTCGTGGGTCTG GGGTGAGGTGTCGGCAAAGAATTCCTCGGGGTCTGGGGTGGGGTGTCGGC AGAGCATCCCTCATGGTTCCGGGGCAAGGCGTCGACAGAGCATCCCTCGT GGGTCTGGGGTGAGGTATTGGCAGAGCATCCCTGGTCCGGGGTGAGGTGT CGGCAGAG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	19/21			chr9	TogoVar
FAM120B_chr6_170301758_170412067	170398809	T T	TCTTAGGA others(379): Show TCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGAAGTG AGTGGGAAAGGTAGAACTATGTCATAACTTAGGAGTGAGTGGGAAAGGTA GAACTATGTCATAACCCTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCA TAACCCTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCATAACTCTTAGG AGTGAGTGGGAAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGA AAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACT ATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACT CTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCATAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	241	0.0041	386	c.269 others(405): Show c.2692+3383_2692+3384insCCTTAGGAGTGAGTGAGAAAGGTAGA ACTATGTCATAACTCTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCATA ACTCTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCATAACTCTTAGGAG TGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGGAA GGTAGAACTATGTCATAACTCTTAGGAGTGAGTGAGAAAGGTAGAACTAT GTCATAACTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTA GAAGTGAGTGGGAAAGGTAGAACTATGTCATAACTTAGGAGTGAGTGGGA AAGGTAGAACTATGTCATAACCCTTAGGAGTGAGTGAGAAAGGTAGAACT ATGTCATAAC	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FLACC1_chr2_201283271_201362345	201284695	G G	GGGGAGAG others(379): Show GGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAG ACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGG GGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGAGACAGGGA GAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGG GAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGA CGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGG GAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGA CAGGGAGAGGGAGAGGGAGACGAGAGGGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02486.hp2 HG02559.hp1 others(9): Show HG02145.hp1 HG02486.hp2 HG02559.hp1 HG02622.hp2 HG02630.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03579.hp2 NA19030.hp2 NA20300.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0004 a0001c0001t0007 a0006c0008t0007 a0001c0001t0004 a0001c0001t0007 a0006c0008t0007	a0001c0001t0004g0289 a0001c0001t0004g0290 a0001c0001t0004g0291 others(9): Show a0001c0001t0004g0289 a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0292 a0001c0001t0004g0295 a0001c0001t0004g0296 a0001c0001t0004g0297 a0001c0001t0004g0299 a0001c0001t0007g0069 a0001c0001t0007g0070 a0001c0001t0007g0071 a0006c0008t0007g0075	12	235	0.0511	386	c.39 others(397): Show c.3959_*3960insTCTCCCTCTCCCTCTCGTCTCCCTCTCCCTCTCC CTGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCT CTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCC CCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCT CTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCTCTCCCCGTCTCC CTCTCCCTGTCTCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTC TCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCTCTCCC CGTCTCCCTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCTCTC CC	FLACC1	ENSG00000155749.13	transcript	ENST00000392257.8	protein_coding		3575		chr2	TogoVar
FOXK2_chr17_82514732_82609602	82586254	C C	CGGAGGGG others(379): Show CGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCA GTGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGCCGGG GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGG GGAATGGAGGAGAGGGGAGACCACAGGGAAGTCAAAGGTGGGCCGGGGGG GAATGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGA AAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAAA GGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0236 a0001c0001t0012g0236	1	242	0.0041	386	c.157 others(401): Show c.1576+54_1576+55insGGAGGGGAAAGGAGGAGAGGGGAGACCACA GGGAGGTGAAAGGTGGGCAGTGGGGAAAGGAGGAGAGGGGAGACCACAGG GAGGTGAAAGGTGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGA GGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAG GTGAAAGGTGGGCCGGGGGGGAATGGAGGAGAGGGGAGACCACAGGGAAG TCAAAGGTGGGCCGGGGGGGAATGGAGGAGAGGGGAGACCACAGGGAGGT GAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGA AAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAA GGTGGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8			chr17	TogoVar
FOXK2_chr17_82514732_82609602	82586256	G G	GGGGGGGA others(379): Show GGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAAGTCAAAGGTAGGCGG AGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTG GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCAGTGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGG GAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGA AAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGGAA AGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAAAG GAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGC	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	215	0.0047	386	c.157 others(401): Show c.1576+62_1576+63insAAAGGAGGAGAGGGGAGACCACAGGGAAGT CAAAGGTAGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGA AAGGTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAA AGGTGGGCAGTGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAG GTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGG TGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTG GGCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGG GCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGC GGGGGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
GLRA2_chrX_14524536_14736812	14631915	C C	CATATGTA others(379): Show CATATGTATATGTATATATATAGACATACATATGTATATGTATATATATA GACATACATATGTATATGTCTATATAGACATACATATACATATGTCTATA TAGACATACATATATGTATGTCTATATAGACATATATATCTATATATACA CATATACGTATATATAGACATATACGTATATGTGTATATATAGACATATA CGTATATGTGTATATATAGACATATACGTATATGTGTATATACGTATATG TGTATATATAGACATATACGTATATGTGTATATATAGACATATACGTATA TGTGTATATATAGACATATACGTATATGTGTATATATAGACATATACGTA TATGTGTATATATAGACATATATATGTATATGTGTAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02809.hp2 NA19240.hp2 HG02717.hp1 HG02809.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0022 a0001c0002t0003g0023 a0001c0002t0003g0024 a0001c0002t0003g0022 a0001c0002t0003g0023 a0001c0002t0003g0024	3	4	0.7500	386	c.930 others(405): Show c.930+22728_930+22729insATAGACATACATATGTATATGTATAT ATATAGACATACATATGTATATGTCTATATAGACATACATATACATATGT CTATATAGACATACATATATGTATGTCTATATAGACATATATATCTATAT ATACACATATACGTATATATAGACATATACGTATATGTGTATATATAGAC ATATACGTATATGTGTATATATAGACATATACGTATATGTGTATATACGT ATATGTGTATATATAGACATATACGTATATGTGTATATATAGACATATAC GTATATGTGTATATATAGACATATACGTATATGTGTATATATAGACATAT ACGTATATGTGTATATATAGACATATATATGTATATGTGTATATATGTAT ATGTATATAT	GLRA2	ENSG00000101958.14	transcript	ENST00000218075.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
GLRA2_chrX_14524536_14736812	14631915	C C	CATATGTA others(379): Show CATATGTATATGTATATATATAGACATACATATGTATATGTATATATATA GACATACATATGTATATGTCTATATAGACATACATATACATATGTCTATA TAGACATACATATATGTATGTCTATATAGACATATATATCTATATATACA CATATACGTATATATAGACATATACGTATATGTGTATATATAGACATATA CGTATATGTGTATATATAGACATATACGTATATGTGTATATATAGACATA TACGTATATGTGTATATACGTATATGTGTATATATAGACATATACGTATA TGTGTATATATAGACATATACGTATATGTGTATATATAGACATATACGTA TATGTGTATATATAGACATATATATGTATATGTGTAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02895.hp1 HG02897.hp2 HG00323.hp1 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0003g0207 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0003g0207	3	4	0.7500	386	c.930 others(405): Show c.930+22728_930+22729insATAGACATACATATGTATATGTATAT ATATAGACATACATATGTATATGTCTATATAGACATACATATACATATGT CTATATAGACATACATATATGTATGTCTATATAGACATATATATCTATAT ATACACATATACGTATATATAGACATATACGTATATGTGTATATATAGAC ATATACGTATATGTGTATATATAGACATATACGTATATGTGTATATATAG ACATATACGTATATGTGTATATACGTATATGTGTATATATAGACATATAC GTATATGTGTATATATAGACATATACGTATATGTGTATATATAGACATAT ACGTATATGTGTATATATAGACATATATATGTATATGTGTATATATGTAT ATGTATATAT	GLRA2	ENSG00000101958.14	transcript	ENST00000218075.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPBP1_chr5_57169059_57269673	57249840	C C	CCCGTCCT others(379): Show CCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCTCT CCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTT CCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCACCTCCTTCCGCCTCCCC CTACCCTTCCCCCTCACCTTCCCCTCATTCCCCCCTCCCCTTCCCCTCCT TCCCCTTCCCCATCCTCTTCCTTCCCCCTCCCCCTTCCCCACCTTCCCCC TCCCCCTTCCCCTCCTTCCCCCTCCCTCCCCCTTCCCCCTCCCCACCTTC CCTGTCCCCCTCCTTCCCCCTTCCCCCTCCCCTCCTTCCCCTTTCCCCCT TCCCCCTCCCCTCCTTCCCCCTTCCCCCCCCCTCCTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 NA20129.hp1 HG01069.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0095 a0001c0001t0001g0066 a0001c0001t0001g0095	2	255	0.0078	386	c.972 others(401): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCT TCCCCCTCCCCTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCA CCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCATTCCCC CCTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCTTCCTTCCCCCTCCCC CTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTCCCCCTCCCTCCCCCT TCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCCCCTTCCCCCTCCCCT CCTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTCCCCCTTCCCCCCCCCT CCTTCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPC5_chr13_91393621_92872237	92347925	T T	TATATATA others(379): Show TATATATATTATATATACTATATATATATTATATATATATATATATTATA TATACTATATATATATTATATATAATATATATATTATATATAATATATAT AATATATATATTATATATTATATATATAATATATAATATATATATTATAT ATAATATATATATAGTATATAATATATATATTATATATATTATATATATT ATATATAATATATATAATATATATATAGTATATATAATATATATATTATA TATAATATATATTATATATAATATATATATTATATATAATATATATATTA TATATAATATATATTATATATAATATATATATAATATATATATATATATA ATATATATATAATATATATATTATATATATAATATAC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	37	0.0270	386	c.156 others(409): Show c.1561+202943_1561+202944insTTATATATACTATATATATATT ATATATATATATATATTATATATACTATATATATATTATATATAATATAT ATATTATATATAATATATATAATATATATATTATATATTATATATATAAT ATATAATATATATATTATATATAATATATATATAGTATATAATATATATA TTATATATATTATATATATTATATATAATATATATAATATATATATAGTA TATATAATATATATATTATATATAATATATATTATATATAATATATATAT TATATATAATATATATATTATATATAATATATATTATATATAATATATAT ATAATATATATATATATATAATATATATATAATATATATATTATATATAT AATATACATATATA	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GRHL1_chr2_9946693_10007277	9998811	T T	TATATATG others(379): Show TATATATGTACACACATATATACACATATATATGTACACACATATATACA CATATATATGTACACACATATATACACATATATATGTACACACATATATA CACATATATATGTACACACATATATACACATATATATGTACACACATATA TACACATATATATGTACACACATATATACACATATATATGTACACACATA TATACACATATATATGTACACACATATATACACATATATATGTACACACA TATATACACATATATATGTACACACATATATACACATATATATGTACACA CATATATACACATATATATGTACACACATATATACACATATATATGTACA CATATATACACATATATATGTACACATATATACACAC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0041 a0002c0002t0002g0041	1	349	0.0029	386	c.167 others(403): Show c.1678-148_1678-147insGTACACACATATATACACATATATATGT ACACACATATATACACATATATATGTACACACATATATACACATATATAT GTACACACATATATACACATATATATGTACACACATATATACACATATAT ATGTACACACATATATACACATATATATGTACACACATATATACACATAT ATATGTACACACATATATACACATATATATGTACACACATATATACACAT ATATATGTACACACATATATACACATATATATGTACACACATATATACAC ATATATATGTACACACATATATACACATATATATGTACACACATATATAC ACATATATATGTACACATATATACACATATATATGTACACATATATACAC ACATATAT	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRTP1_chr13_113319163_113369130	113347807	T T	TGGGAGGA others(379): Show TGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCCA AGAACAGATCCGGGAGGACCTCTGAAGCCGAGAGCAGACCCGGGAGGACC TCTGTGGCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCAGACC CAGGAGGATCTCTGTGGCCGAGAGCAGACCTGGGAGGACCTCTGTGGCCG AGAGCGGACCCAGGAGCACCTCTGTGGCTGAGCGGATCCGGGAGGACCTC TGTGGCAGAGAGCAGACCCAGGAGGACCTCTGTGGCTGAGAACAGACCCG GGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAG CAGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCC	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	280	0.0036	386	c.466 others(403): Show c.466-2849_466-2848insGGGTCTGCTCTCTGCCACAGAGGTCCTC CCAGATCTGCTCAGCCACAGAGGTCCTCCCAGGTCCGCTCTCAGCCACAG AGGTCCTCCCGGGTCTGTTCTCAGCCACAGAGGTCCTCCTGGGTCTGCTC TCTGCCACAGAGGTCCTCCCGGATCCGCTCAGCCACAGAGGTGCTCCTGG GTCCGCTCTCGGCCACAGAGGTCCTCCCAGGTCTGCTCTCGGCCACAGAG ATCCTCCTGGGTCTGCTCTCAGCCACAGAGGTCCTCCCGGGTCCACTGTC AGCCACAGAGGTCCTCCCGGGTCTGCTCTCGGCTTCAGAGGTCCTCCCGG ATCTGTTCTTGGCCACAGAGGTCCTCCCGGGTCTGCTCTCTGCCACAGAG GTCCTCCC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GTPBP6_chrX_299759_323796	315563	C C	CACACACA others(379): Show CACACACACACACACACAGTAAATACATCCCGACAGGGACAGACACAGAC ACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGGACA CAAACACATACACACGCAGACACACACACACACACACAAACACACAGTAA ATACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAA ACACAGTAAACACATGCTGGCAGGGACACAAACACATACACACGCAGACA CACACACACACACACAAACACACAGTAAATACATCCCGACAGGGACAGAC ACAGACACACACACAGAGACACACACAGAGACACACACAAACACAGTAAA CACATGCTGGCAGGGACACAAACACATACACACGCAG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0023 a0023	a0023c0026 a0023c0026	a0023c0026t0003 a0023c0026t0003	a0023c0026t0003g0071 a0023c0026t0003g0071	1	153	0.0065	386	c.488 others(401): Show c.488-265_488-264insCTGCGTGTGTATGTGTTTGTGTCCCTGCCA GCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTG TGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGT GTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTT ACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGG GATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTAT GTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTG TGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGT GTGTGT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
HCN2_chr19_584881_622159	602360	T T	TCTCCTGC others(379): Show TCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCC CACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTG CGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCC CTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGC GTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCC TCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0058 a0002c0058	a0002c0058t0014 a0002c0058t0014	a0002c0058t0014g0254 a0002c0058t0014g0254	1	212	0.0047	386	c.633 others(403): Show c.633-1092_633-1091insCTCTCTCCTCCTGCGTGGACGCCCCACT CCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCT GCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCC TCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGG ACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCT CTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCC CACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCC TCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCC ACTTCCTC	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HERC6_chr4_88373852_88448097	88380219	A A	AATATATA others(379): Show AATATATATATAATATATAAATTATATATAATATATAAATATATATATAA TATATAAATATATATATATATAAATATATATATAATATATAAATATATAT AATATATAAATATATATATAATATATAAATAATATATAATATATAAAATA TATATAATATATAAATATATATATAATATATAAATATATATAATATATAA ATATATATATAATATATAAATATATATATAATATATAAATATATATAATA TATAAATATATATAATATATAAATATATATATAATATATAAATATATATA ATATATAAATATATATATAATATATAAATATATATAATATATAAATATAT ATATATAATATATAAATATATAGTAATATATAAATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0050 a0008c0009t0001g0050	1	51	0.0196	386	c.199 others(403): Show c.199+1106_199+1107insTATAATATATAAATTATATATAATATAT AAATATATATATAATATATAAATATATATATATATAAATATATATATAAT ATATAAATATATATAATATATAAATATATATATAATATATAAATAATATA TAATATATAAAATATATATAATATATAAATATATATATAATATATAAATA TATATAATATATAAATATATATATAATATATAAATATATATATAATATAT AAATATATATAATATATAAATATATATAATATATAAATATATATATAATA TATAAATATATATAATATATAAATATATATATAATATATAAATATATATA ATATATAAATATATATATATAATATATAAATATATAGTAATATATAAATA TATATATA	HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
JAKMIP3_chr10_132060946_132189858	132159652	C C	CCCTATGT others(379): Show CCCTATGTGATGCTCAGGGGGCCTCTCCCTGTGTGATGCTGGGGGCATGT CTTCCTGTGTGATACTGGGGGGGCCTCTTCCTGTGTGATGCTGGGGGGCC TCTTCCTGTGTGATGCTGCGGGGGGGTCTATTCCTGTGTCTTACTGGGGG GGCCTCTCCCTGTGTGATGCTGGGGAGCCTCTTCCAGTGTGATGCTGGGG GGGTCTCTTCCTGTGTGATGCTGGGGGGCCTCTCGCTGTGTGATGCTGGG GGGCCTCTCCCTGTGTGATGCTGGGGGAGTCTCTTCCTGTGTGATGCTGG GGGGGCCTCTCCCTGTGTGATGCTGGGGGGCCTCTCCCTGTGTGATGCTG GGGGGCCTCTCCCTGTGTGATGCTGGGGGAGTCTCTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0002 a0003c0002t0001g0002	1	151	0.0066	386	c.222 others(405): Show c.2221-3554_2221-3553insATGTGATGCTCAGGGGGCCTCTCCCT GTGTGATGCTGGGGGCATGTCTTCCTGTGTGATACTGGGGGGGCCTCTTC CTGTGTGATGCTGGGGGGCCTCTTCCTGTGTGATGCTGCGGGGGGGTCTA TTCCTGTGTCTTACTGGGGGGGCCTCTCCCTGTGTGATGCTGGGGAGCCT CTTCCAGTGTGATGCTGGGGGGGTCTCTTCCTGTGTGATGCTGGGGGGCC TCTCGCTGTGTGATGCTGGGGGGCCTCTCCCTGTGTGATGCTGGGGGAGT CTCTTCCTGTGTGATGCTGGGGGGGCCTCTCCCTGTGTGATGCTGGGGGG CCTCTCCCTGTGTGATGCTGGGGGGCCTCTCCCTGTGTGATGCTGGGGGA GTCTCTTCCT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAZF1_chr7_27825577_28185795	28110448	A A	AAAAGGAA others(379): Show AAAAGGAAAGGAAAGGAAAGGAAAGGAAAAGGAAAGGAAAGGAAAGGAAA AGGAAAAGGAAAGGAAAGGAAAGGAAAAGGAAAGGAAAGGAAAAGGAAAG GAAAAGGAAAGGAAAGGAAAGGAAAGGAAAGAAAGGAAAGGAAAGGAAAG GAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAG GAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAAGGAAA GGAAAGGAAAGGGAAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGA AGAAAGGAAAGGAAAGGAAAAGGAAAGGAAAGGAAAGGAAAGGAAAGAAA GGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	177	0.0056	386	c.115 others(405): Show c.115+70014_115+70015insCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCTTTCCTTTCCTTTCCTTTCCTTTCCTTTTCCTTTC CTTTCCTTTCTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTTCC CTTTCCTTTCCTTTCCTTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCTTTCCTTTCCTTTCCTTTC CTTTCCTTTTCCTTTCCTTTTCCTTTCCTTTCCTTTTCCTTTCCTTTCCT TTCCTTTTCCTTTTCCTTTCCTTTCCTTTCCTTTTCCTTTCCTTTCCTTT CCTTTCCTTT	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	1/4			chr7	TogoVar
JPH3_chr16_87597508_87703156	87614268	A A	ACAGGCCC others(379): Show ACAGGCCCCTGTATACAGGAGGAGCTGTGCGTCCCCTCCAAGGATAAAGG CAGGTCCCTGTACACAGGAGGAGCTGTGCGTCCCCTCCAAGGATAAAGGC AGGTCCCTGTACACAGGAGGAGCTGTGCGTCCCCTCCAAGGATAAAGGCA GGTCCCTGTTCACAGGAGGAGCTGTGCGTCCCCTCCCAGGATAAAGGCAG GTCCCTGTACACAGGAGCTACACGTCCCCTCCCAGGATAAACACAGGCCC CTGTATACAGGAGGAGCTGTGCGTCCCCTCCCAGGATAAAGGCAGGTCCC TGCACACAGGAGCTACACGTCCCCTCCCAGGATAAACACAGGCCCCTGTA TACAGGAGGAGCTGTGCGTCCCCTCCAAGGATAAAGG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0015 a0001c0022t0015	a0001c0022t0015g0126 a0001c0022t0015g0126	1	93	0.0108	386	c.382 others(405): Show c.382+10744_382+10745insCCCCTGTATACAGGAGGAGCTGTGCG TCCCCTCCAAGGATAAAGGCAGGTCCCTGTACACAGGAGGAGCTGTGCGT CCCCTCCAAGGATAAAGGCAGGTCCCTGTACACAGGAGGAGCTGTGCGTC CCCTCCAAGGATAAAGGCAGGTCCCTGTTCACAGGAGGAGCTGTGCGTCC CCTCCCAGGATAAAGGCAGGTCCCTGTACACAGGAGCTACACGTCCCCTC CCAGGATAAACACAGGCCCCTGTATACAGGAGGAGCTGTGCGTCCCCTCC CAGGATAAAGGCAGGTCCCTGCACACAGGAGCTACACGTCCCCTCCCAGG ATAAACACAGGCCCCTGTATACAGGAGGAGCTGTGCGTCCCCTCCAAGGA TAAAGGCAGG	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
KCNK2_chr1_215077737_215242090	215209559	T T	TATATATA others(379): Show TATATATATAAAATAGATATTATATATAAAATATATAAAATAGATATATA TAAAATATATAAAATAGATATTATATATAAAATATATATAATATATATAT AAAATAGATATTATATATAAAATATATATTATATATTATATAAAATATAT ATTATATATTATATAATATATAATATATATTATATATATTATATATTATA TAATATATAATATATATTATATATATTATATATTATATATTAAATATATA TTATATATATATAATATATATTAAATATATATTATATAAAATATATATTA TATATAAAATATATATTATATATAAAATATATAATATATATAAAATATAT ATTATATATAAAATATATATTATATATAAAATATATA	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0022 a0001c0001t0016g0022	1	201	0.0050	386	c.963 others(405): Show c.963+14477_963+14478insAATAGATATTATATATAAAATATATA AAATAGATATATATAAAATATATAAAATAGATATTATATATAAAATATAT ATAATATATATATAAAATAGATATTATATATAAAATATATATTATATATT ATATAAAATATATATTATATATTATATAATATATAATATATATTATATAT ATTATATATTATATAATATATAATATATATTATATATATTATATATTATA TATTAAATATATATTATATATATATAATATATATTAAATATATATTATAT AAAATATATATTATATATAAAATATATATTATATATAAAATATATAATAT ATATAAAATATATATTATATATAAAATATATATTATATATAAAATATATA ATATATATAA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNK2_chr1_215077737_215242090	215209560	A A	ATATATAT others(379): Show ATATATATAAAATAGATATTATATATAAAATATATAAAATAGATATATAT AAAATATATAAAATAGATATTATATATAAAATATATATAATATATATATA AAATAGATATTATATATAAAATATATATTATATATTATATAAAATATATA TTATATATTATATAATATATAATATATATTATATATATTATATATTATAT AATATATAATATATATTATATATATTATATATTATATATTAAATATATAT TATATATATATAATATATATTAAATATATATTATATAAAATATATATTAT ATATAAAATATATATTATATATAAAATATATAATATATATAAAATATATA TTATATATAAAATATATATTATATATAAAATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03139.hp2 HG03130.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0042 a0001c0002t0012 a0001c0002t0042	a0001c0002t0012g0148 a0001c0002t0042g0144 a0001c0002t0012g0148 a0001c0002t0042g0144	2	186	0.0108	386	c.963 others(405): Show c.963+14477_963+14478insAATAGATATTATATATAAAATATATA AAATAGATATATATAAAATATATAAAATAGATATTATATATAAAATATAT ATAATATATATATAAAATAGATATTATATATAAAATATATATTATATATT ATATAAAATATATATTATATATTATATAATATATAATATATATTATATAT ATTATATATTATATAATATATAATATATATTATATATATTATATATTATA TATTAAATATATATTATATATATATAATATATATTAAATATATATTATAT AAAATATATATTATATATAAAATATATATTATATATAAAATATATAATAT ATATAAAATATATATTATATATAAAATATATATTATATATAAAATATATA TTATATATAA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNMB2_chr3_178531436_178849429	178757996	T T	TCCAAGAG others(379): Show TCCAAGAGGATATATATATATATCTCCAAGAGGATATATATATATACACA AGAGGATATATATATATACACACAAGAGGATATATATATGTACACACAAG AGGATATATATATATATATATCCAAGAGGATATATATATATATATCCAAG AGGATATATATATATATATATATCCAAGAGGATATATATATATATATATA TCCAAGAGGATATATATATATATATATATCCAAGAGGATATATATATATA TATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATA TATATATATATATATATATCCAAGAGGATATATATATATATATATATATC CAAGAGGATATATATATATATATATATATCCAAGAGG	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0070 a0001c0002t0001g0070	1	87	0.0115	386	c.-67 others(405): Show c.-67-49347_-67-49346insCCAAGAGGATATATATATATATCTCC AAGAGGATATATATATATACACAAGAGGATATATATATATACACACAAGA GGATATATATATGTACACACAAGAGGATATATATATATATATATCCAAGA GGATATATATATATATATCCAAGAGGATATATATATATATATATATCCAA GAGGATATATATATATATATATATCCAAGAGGATATATATATATATATAT ATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATATAT ATATATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGG ATATATATATATATATATATATCCAAGAGGATATATATATATATATATAT ATCCAAGAGG	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4			chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758215	G G	GATATATA others(379): Show GATATATATATATATATATATCCAAGAGGATATATATATATATATATATC CAAGAGGATATATATATATATATATATCCAAGAGGATATATATATATATA TATATCCAAGAGGATATATATATATATATATATCCAAGAGGATATATATA TATATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATATA TATATATATATATATCCAAGAGGATATATATATATATATATATCCAAGAG GATATATATATATATATATATCCAAGAGGATATATATATATATATATATC CAAGAGGATATATATATATATATATCCAAGAGGATATATATCTATATATA TCCAAGAGGATATATATCTATATATATCCAAGAGGAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0096	1	191	0.0052	386	c.-67 others(405): Show c.-67-49110_-67-49109insATCCAAGAGGATATATATATATATAT ATATCCAAGAGGATATATATATATATATATATCCAAGAGGATATATATAT ATATATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATAT ATATATATATATATATCCAAGAGGATATATATATATATATATCCAAGAGG ATATATATATATATATATATCCAAGAGGATATATATATATATATATATCC AAGAGGATATATATATATATATATATCCAAGAGGATATATATATATATAT ATATCCAAGAGGATATATATATATATATATCCAAGAGGATATATATCTAT ATATATCCAAGAGGATATATATCTATATATATCCAAGAGGATATATATAT ATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KIF1A_chr2_240708767_240825219	240780778	A A	ACACACAC others(379): Show ACACACACACACACACACAGCTCCACACACACACACACACACACACACAC AGCTCCACACACACACACACACACAGCTCCACACACACACACAGCTCCAC ACACACACACACACACAGCTCCACACACACACACACACACACACACACAC AGCTCCACACACACACACACACACAGCTCCACACACACACACAGCTCCAC ACACACACAGCTCCACACACACACACACACAGCTCCACACACACACACAC AGCTCCACACACACACAGCTCCACACACACACACACAGCTCCACACACAC ACACACACAGCTCCACACACACACACACACACAGCGCCACACACACACAG CTCCACACACACACACAGCTCCACACACACACAGCTC	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0238 a0001c0001t0002g0238	1	328	0.0030	386	c.882 others(403): Show c.882+1811_882+1812insGAGCTGTGTGTGTGTGGAGCTGTGTGTG TGTGTGGAGCTGTGTGTGTGTGGCGCTGTGTGTGTGTGTGTGTGTGGAGC TGTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTGGAGCTGTGTGTG TGTGGAGCTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTGTGGAGC TGTGTGTGTGTGGAGCTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTG TGTGGAGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGAGCTGTGTGTG TGTGTGTGTGTGGAGCTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTG TGTGGAGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGGAGCTGTGTGTGTG TGTGTGTG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48			chr2	TogoVar
KLHL18_chr3_47277944_47351816	47316734	T T	TACATATA others(379): Show TACATATATACGTATATATGTATATGTGTGTGTATATATACATATATACG TATGTGTGTATATATATACATATATACGTATATATGTATATGTGTGTATA TATACATATATACGTATATATGTATATGTGTGTATATATACATATATACG TATATATGTATATGTGTGTATATATACATATATACGTATATATGTATATG TGTGTATATATACATATATACGTGTATATGTATATGTGTGTATATATACA TATATACGTGTATATGTATATGTGTGTATATATACATATATACGTATATA TGTATATGTATATATGTGTATATATACACATATATACGTATATATGTGTA TATATACACATATATACGTATATATGTGTATATATAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0023 a0001c0004t0001g0023	1	52	0.0192	386	c.130 others(403): Show c.130-2871_130-2870insGTATGTGTGTATATATATACATATATAC GTATATATGTATATGTGTGTATATATACATATATACGTATATATGTATAT GTGTGTATATATACATATATACGTATATATGTATATGTGTGTATATATAC ATATATACGTATATATGTATATGTGTGTATATATACATATATACGTGTAT ATGTATATGTGTGTATATATACATATATACGTGTATATGTATATGTGTGT ATATATACATATATACGTATATATGTATATGTATATATGTGTATATATAC ACATATATACGTATATATGTGTATATATACACATATATACGTATATATGT GTATATATACACATATATACGTATATATGTATATGTGTGTGTATATATAC ATATATAC	KLHL18	ENSG00000114648.12	transcript	ENST00000232766.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
LCN15_chr9_136754634_136769518	136769303	T T	TCCATGCA others(379): Show TCCATGCACTGCCCCCCGCCACCCCCCCATGCACTGCCCCCCCGCCACCC CGCCACCCCTCCATGCACTGCCCCCCCCGCCACCCCGCCACCCCTCCATG CACTGCCCCCCCGCCACCCCGCCACCCCCCCATGCACTGCCCCCCGCCAC CCCCCCATGCACTGCCCCCCCGCCACCCCCGCCACCCCTCCATGCACTGC CCCCCGCCACCCCCCCATGCACTGCCCCCCCGCCACCCCGCCACCCCTCC ATGCACTGCCCCCCCCGCCACCCCGCCACCCCTCCATGCACTGCCCCCCC GCCACCCCCGCCACCCCTCCATGCACTGCCCCCCCCGCCACCCCGCCACC CCTCCATGCACTGCCCCCCCGCCACCCCGCCACCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0033 a0002c0002t0001g0033	1	337	0.0030	386	c.-48 others(397): Show c.-4816_-4815insGGGGGTGGCGGGGTGGCGGGGGGGCAGTGCATGG AGGGGTGGCGGGGTGGCGGGGGGGGCAGTGCATGGAGGGGTGGCGGGGGT GGCGGGGGGGCAGTGCATGGAGGGGTGGCGGGGTGGCGGGGGGGGCAGTG CATGGAGGGGTGGCGGGGTGGCGGGGGGGCAGTGCATGGGGGGGTGGCGG GGGGCAGTGCATGGAGGGGTGGCGGGGGTGGCGGGGGGGCAGTGCATGGG GGGGTGGCGGGGGGCAGTGCATGGGGGGGTGGCGGGGTGGCGGGGGGGCA GTGCATGGAGGGGTGGCGGGGTGGCGGGGGGGGCAGTGCATGGAGGGGTG GCGGGGTGGCGGGGGGGCAGTGCATGGGGGGGTGGCGGGGGGCAGTGCAT GG	LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding		4786		chr9	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(379): Show CCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCG GGCCACGTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACC CGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACCTACTACACA CCCGGGCCACTTACTTACCTACTACACACCCGGGCCGCTTACTTACCTAC TACACACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTT ACCTACTACACACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGC TTACTTACCTACTACACACCCGGGCCGCTTACTTACCTACTACACACCCG GGCCGCTTACTTACCTACTACACACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	6	0.1667	386	c.368 others(403): Show c.368-3035_368-3034insTAAGCGGCCCGGGTGTGTAGTAGGTAAG TAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTA GGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGT GTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCC GGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAG TGGCCCGGGTGTGTAGTAGGTAAGTAAGTGGCCCGGGTATGTAGTAAGTA AGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAG TACGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTA AGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LYPD8_chr1_248734415_248760759	248742783	G G	GTTATGCT others(379): Show GTTATGCTCTGGTGGGGATGTTGGCAGCCGGGGGAGGTTATGCTCTGGTG GGGATGTTGGCAGCCGGGGAGATTACGCTCTGGTGGGGATGTTGGCAGCC GGGTAGATTACGCTCTGGTGGGGATGTTGGCAGCGGGGAGGTTATGCTCT GGTGGGATGTTGGCAGCCGGGGGAGGTTATGCTCTGGTGGGGATGTTGGC AGCGGGGGAGATTATGCTCTGGTGGGGATGTTGGCAGCCAGGGAGATTAT GCTCTGGTGGGGATGTTGGCAGCCGGGGAGATTACGCTCTGGTGGGGATG TTGGCAGCGGGGGAGGTTATGCTCTGGTGGGGATGTTGGCAGCCGGGGGA GGTTATGCTCTGGTGGGGATGTTGGCAGCGGGGGAGA	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	364	0.0027	386	c.475 others(403): Show c.475+2358_475+2359insTCTCCCCCGCTGCCAACATCCCCACCAG AGCATAACCTCCCCCGGCTGCCAACATCCCCACCAGAGCATAACCTCCCC CGCTGCCAACATCCCCACCAGAGCGTAATCTCCCCGGCTGCCAACATCCC CACCAGAGCATAATCTCCCTGGCTGCCAACATCCCCACCAGAGCATAATC TCCCCCGCTGCCAACATCCCCACCAGAGCATAACCTCCCCCGGCTGCCAA CATCCCACCAGAGCATAACCTCCCCGCTGCCAACATCCCCACCAGAGCGT AATCTACCCGGCTGCCAACATCCCCACCAGAGCGTAATCTCCCCGGCTGC CAACATCCCCACCAGAGCATAACCTCCCCCGGCTGCCAACATCCCCACCA GAGCATAA	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	6/6			chr1	TogoVar
MBNL3_chrX_132364320_132494038	132396741	T T	TATATATT others(379): Show TATATATTCATATATAGATTCATATATAGATTCATATATAGATTCATATA TAGATTCATATATATTCATATATAGATTCATATATATATTCATATATATT CATATATATTCATATATATATTCATATATATATTCATATATATTCATATA TATATTCATATATATATTCATATATATATTCATATATATTCATATATATA TTCATATATATATTCATATATATATTCATATATATATTCATATATATTCA TATATATATTCATATATATTCATATATATATTCATATATATTCATATATA TATTCATATATATATTCATATATATATTCATATATATATTCATATATATA TATTCATATATATATTCATATATACATATATATATTC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0001 a0001c0001t0029g0001	1	171	0.0058	386	c.343 others(403): Show c.343-4408_343-4407insGAATATATATATGTATATATGAATATAT ATATGAATATATATATATGAATATATATATGAATATATATATGAATATAT ATATGAATATATATATGAATATATATGAATATATATATGAATATATATGA ATATATATATGAATATATATGAATATATATATGAATATATATATGAATAT ATATATGAATATATATATGAATATATATGAATATATATATGAATATATAT ATGAATATATATATGAATATATATGAATATATATATGAATATATATATGA ATATATATGAATATATATGAATATATATATGAATCTATATATGAATATAT ATGAATCTATATATGAATCTATATATGAATCTATATATGAATCTATATAT GAATATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MLIP_chr6_54106443_54271280	54251553	A A	ATTATATA others(379): Show ATTATATATTTATATATTTATATATAATATATATTATATATTATATAATA TATATTATATATTATATAATATATATTATATAATATATAATATATATTAT ATTATATTATATATTATATTATATAATATATAATATTATATATTATATTA TATAATATATAATATTATATATTATATTATATAATATATAATATTATATA TTATATTATATATTATATTATATAATATATAATATTATATATATTATATT ATATAATATATAATATTATATATATTATATTATATAATATATAATATTAT ATATATTATATTATATAATATATAATATATAATATTATATATAATAACAT AATATATAATATAAATATATATTATAGCATATAATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0002 a0006c0008t0002	a0006c0008t0002g0148 a0006c0008t0002g0148	1	172	0.0058	386	c.292 others(405): Show c.2923-5755_2923-5754insTTATATATTTATATATTTATATATAA TATATATTATATATTATATAATATATATTATATATTATATAATATATATT ATATAATATATAATATATATTATATTATATTATATATTATATTATATAAT ATATAATATTATATATTATATTATATAATATATAATATTATATATTATAT TATATAATATATAATATTATATATTATATTATATATTATATTATATAATA TATAATATTATATATATTATATTATATAATATATAATATTATATATATTA TATTATATAATATATAATATTATATATATTATATTATATAATATATAATA TATAATATTATATATAATAACATAATATATAATATAAATATATATTATAG CATATAATAT	MLIP	ENSG00000146147.15	transcript	ENST00000502396.6	protein_coding	12/13			chr6	TogoVar
MLPH_chr2_237482251_237560322	237543906	G G	GGGACAGT others(379): Show GGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGGACAGTGGCAAGTG GGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTG GGCACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGG GACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGT GGAGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGGGACAGTG GTGAGTGGAGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGGGG ACAGTGGTGAGTGGAGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGG AGGGACATTGGTGAGTGGGGGGACAGTGGTGAGTGGA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0057 a0002c0002t0002g0057	1	215	0.0047	386	c.153 others(405): Show c.1539+1248_1539+1249insGACAGTGGTGAGTGGGGGGACAGTGG CAAGTGGGGACAGTGGCAAGTGGGGACAGTGGTGAGTGGGGACAGTGGTG AGTGGGGGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGGGACAGTGGTG AGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGAGGGGACAGTGGT GAGTGGGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGAGGGGAC AGTGGTGAGTGGGGGGACAGTGGTGAGTGGAGGGACAGTGGTGAGTGGAG GGGACAGTGGTGAGTGGGGGGGACAGTGGTGAGTGGAGGGACAGTGGTGA GTGGGGGGACAGTGGTGAGTGGAGGGACATTGGTGAGTGGGGGGACAGTG GTGAGTGGAG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYDGF_chr19_4652545_4675342	4663531	C C	CACAGCCT others(379): Show CACAGCCTCCAATCTACGCTCCCATCCACCCCATCCTCATTCTACACAGC CTCCAATCTATCCTCCCCACCCACCCCACCCTCATTCTACAGCCTCCAAT CTACCCTCCCCACCCACCCCATCCTCATTCTACAGCCTCCAATCTACCCT CCCCACCCACCCCATCCTCATTCTACAGCCTCCAATCTACCCTCCCCACC CACCCCATCCTCATTCTACACAGCCTCCAATCTACCCTCCCCACCTCATC CTCATTCTACAGCCTCCAGTATACCCTCCCCACCCACCCCATCCTCATTC TACAGCCTCCAATCTACCCTCCCCACCCACCCCACCCTCATTCTACAGCC TCCAATCTACCCTCCCCACCCACCCCATCCTCATTCT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0046 a0002c0003t0002g0046	1	392	0.0026	386	c.287 others(403): Show c.287+1344_287+1345insAGAATGAGGATGGGGTGGGTGGGGAGGG TAGATTGGAGGCTGTAGAATGAGGGTGGGGTGGGTGGGGAGGGTAGATTG GAGGCTGTAGAATGAGGATGGGGTGGGTGGGGAGGGTATACTGGAGGCTG TAGAATGAGGATGAGGTGGGGAGGGTAGATTGGAGGCTGTGTAGAATGAG GATGGGGTGGGTGGGGAGGGTAGATTGGAGGCTGTAGAATGAGGATGGGG TGGGTGGGGAGGGTAGATTGGAGGCTGTAGAATGAGGATGGGGTGGGTGG GGAGGGTAGATTGGAGGCTGTAGAATGAGGGTGGGGTGGGTGGGGAGGAT AGATTGGAGGCTGTGTAGAATGAGGATGGGGTGGATGGGAGCGTAGATTG GAGGCTGT	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding	3/5			chr19	TogoVar
NDUFV3_chr21_42888309_42918299	42894401	T T	TTATATAT others(379): Show TTATATATAAATATATAATATATATAATATATATTATATATAAATATATA ATATATATTATATATTATATATATTTATATATAATATATAATATATATTA TATATAAATATATATAATATATAATATATATTATATATAAATATATATAT AATATATAATATATATTATATATAAATATATAATATATAATATATATTAT ATTATATATTATATAATATGTAAATATATATTATATATATTATATAATAT ATAATATATTATATATATTATATAATATATAATATATTATATATATTATA TAATATATTATATATAATATAATATATTATATATTATATAATATATTATA TATTATATAATATATATAATATATAATATATTATATA	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0201 a0002c0003t0004g0201	1	202	0.0050	386	c.48+ others(401): Show c.48+1021_48+1022insATATATAAATATATAATATATATAATATAT ATTATATATAAATATATAATATATATTATATATTATATATATTTATATAT AATATATAATATATATTATATATAAATATATATAATATATAATATATATT ATATATAAATATATATATAATATATAATATATATTATATATAAATATATA ATATATAATATATATTATATTATATATTATATAATATGTAAATATATATT ATATATATTATATAATATATAATATATTATATATATTATATAATATATAA TATATTATATATATTATATAATATATTATATATAATATAATATATTATAT ATTATATAATATATTATATATTATATAATATATATAATATATAATATATT ATATAT	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar

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