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	20357810	T T	TACTGAGG others(589): Show TACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGG AGGTGGTCACAGTGTGCGGGGAGGTGGTCATACTGAGGGGAGGTGGTCAC ACTGTGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCACACTGTGAGGG GAGGTGGTCACACTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCA CACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGG AGGTGGTCACACTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCAC ACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGA GGTGGTGACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGT GTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCACATTGAGGAGAG GTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAC TGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGAGAGG TGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG00639.hp2 others(28): Show HG00323.hp1 HG00423.hp2 HG00639.hp2 HG00738.hp1 HG00741.hp1 HG01071.hp1 HG01123.hp2 HG01168.hp1 HG01192.hp1 HG01261.hp2 HG01346.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG02148.hp2 HG02300.hp2 HG02602.hp2 HG02630.hp2 HG03942.hp2 NA18942.hp1 NA18945.hp1 NA18951.hp2 NA18962.hp1 NA18964.hp1 NA18970.hp2 NA18971.hp2 NA18981.hp1 NA19005.hp2 NA20129.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0013 a0016	a0001c0001 a0001c0003 a0001c0006 others(7): Show a0001c0001 a0001c0003 a0001c0006 a0002c0002 a0002c0004 a0002c0035 a0003c0005 a0003c0046 a0013c0033 a0016c0041	a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 others(10): Show a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 a0001c0006t0001 a0002c0002t0001 a0002c0002t0004 a0002c0004t0001 a0002c0004t0004 a0002c0035t0001 a0003c0005t0001 a0003c0046t0001 a0013c0033t0001 a0016c0041t0001	a0001c0001t0001g0028 a0001c0001t0001g0162 a0001c0001t0001g0163 others(28): Show a0001c0001t0001g0028 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0169 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0236 a0001c0001t0004g0014 a0001c0003t0001g0196 a0001c0003t0001g0211 a0001c0003t0001g0221 a0001c0006t0001g0220 a0002c0002t0001g0029 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0051 a0002c0002t0001g0064 a0002c0002t0001g0088 a0002c0002t0001g0111 a0002c0002t0001g0189 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0004g0001 a0002c0004t0001g0025 a0002c0004t0004g0017 a0002c0035t0001g0204 a0003c0005t0001g0217 a0003c0046t0001g0059 a0013c0033t0001g0026 a0016c0041t0001g0210	31	54	0.5741	596	c.351 others(615): Show c.3514-2359_3514-2358insCTGAGGGGAGGTGGTCACAGTGTGCG GGGAGGTGGTCATACTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGT CACACTGAGGAGAGGTGGTCACACTGTGAGGGGAGGTGGTCACACTGAGG AGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTC ACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGA GAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCA CACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTGACACTGAGGGG AGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCAC ACTGTGAGGGGAGGTGGTCACATTGAGGAGAGGTGGTCATAGTGTGAGGG GAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATA GTGTGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCATAGTGTGAGGGG AGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAG TGTGAGGGGAGGTGGTCACA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(589): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCC CCTCCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCCCCC TCCTCTTCCTCCCCCTCTTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCAC TTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTT CCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0108 a0001c0001t0004g0108	1	2	0.5000	596	c.162 others(617): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCCCC CTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCTTCCTCCTCTT CCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCC TCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTC CTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL4A1_chr13_110143963_110312157	110255806	A A	AGGGGGAA others(589): Show AGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCA GGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGG GAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGA AGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGA AGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGG GAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGG CAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAG GGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGAAAGGCAGG AAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGA AGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGG GAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGG CAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	298	0.0034	596	c.85- others(613): Show c.85-13073_85-13072insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTC CCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTT CCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTT CCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTTCCC CTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGC CTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTC CCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTT CCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTT CCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCC CCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCC TGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCT CCCTTCCTGCCTTCCCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL5A1_chr9_134636803_134849843	134729685	C C	CGTGTGTG others(589): Show CGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTG TGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCC TGTGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTG TGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTG CATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACG GGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCG GGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCG TGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTG TGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAG CGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0014 a0001c0005t0014	a0001c0005t0014g0258 a0001c0005t0014g0258	1	267	0.0037	596	c.925 others(611): Show c.925-432_925-431insCATGCGGGCACGGGTGTGCATGAGCCTGTG TGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTG CATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACG GGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCG GGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCG TGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTG TGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAG CGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTG TGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTG AGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTG TGTGTGAGCGTGTGTG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
DCLK1_chr13_35763652_36136382	35958279	T T	TCACTACT others(589): Show TCACTACTATAACCACCACTACCACCACCACCACTATAACCATCACCACC ATCACCACTATAACCACCACTACCACCACCACCACTATAACCACCACCAC CACCACTATAACCACCATCATCATCACCACCACTACCACTACTACAACCA TTACCACCATCACTGCTATAACCACCACCACCATTATAACCATCACCACC ACCACTATAACCACCATCATCATCACCACCACTACCACTACTATAACCAT TACCACCATTACTACTATAACCACCACCACCACCACCACCACCACTATAA TCATTACCACTATAACCACCACTACCACCACTACCACTATGATAACCATC ACCAACACCACTATAACCACCAATGCCAAGAAGTGTTCATAGCAGGAGTC ATAAACACAGGACCAACCAGGGATAGGACCAACCAGGACCAACCAGGACC AACACCACCACCACTACTACCACTACTATAACCATCACCACCATCACTGC TATAATCACCACCACCACCACCATCACTATAATCATCACCATCATCACCA CTATAACCACCACCACCACCACCACCACCAGTTATAACCATCACCAC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0094 a0001c0003t0004g0094	1	137	0.0073	596	c.724 others(615): Show c.724-10823_724-10822insGTGGTGATGGTTATAACTGGTGGTGG TGGTGGTGGTGGTGGTTATAGTGGTGATGATGGTGATGATTATAGTGATG GTGGTGGTGGTGGTGATTATAGCAGTGATGGTGGTGATGGTTATAGTAGT GGTAGTAGTGGTGGTGGTGTTGGTCCTGGTTGGTCCTGGTTGGTCCTATC CCTGGTTGGTCCTGTGTTTATGACTCCTGCTATGAACACTTCTTGGCATT GGTGGTTATAGTGGTGTTGGTGATGGTTATCATAGTGGTAGTGGTGGTAG TGGTGGTTATAGTGGTAATGATTATAGTGGTGGTGGTGGTGGTGGTGGTG GTTATAGTAGTAATGGTGGTAATGGTTATAGTAGTGGTAGTGGTGGTGAT GATGATGGTGGTTATAGTGGTGGTGGTGATGGTTATAATGGTGGTGGTGG TTATAGCAGTGATGGTGGTAATGGTTGTAGTAGTGGTAGTGGTGGTGATG ATGATGGTGGTTATAGTGGTGGTGGTGGTGGTTATAGTGGTGGTGGTGGT AGTGGTGGTTATAGTGGTGATGGTGGTGATGGTTATAGTGGTGGTGGTGG TAGTGGTGGTTATAGTAGTG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DCLK1_chr13_35763652_36136382	35958284	G G	GCTATAAC others(589): Show GCTATAACCACCACCACCATTATAACCATCACCACCATCACCACTATAAC CACCACTACCACCACCACCACTATAACCACCACCACCACCACTATAACCA CCATCATCATCACCACCACTACCACTACTGTAACCATCACCACCATCACC ACTATAACCACCACTACCACCACCACCACTATAACCACCACCACCACCAC TATAACCACCATCATCATCACCACCACTACCACTACTATAACCATTACCA CCATTACTACTATAACCACCACCACCACCACCACCACCACTATAATCATT ACCACTATAACCACCACTACCACCACTACCACTATGATAACCATCACCAA CACCACTATAACCACCAATGCCAAGAAGTGTTCATAGCAGGAGTCATAAA CACAGGACCAACCAGGGATAGGACCAACCAGGACCAACCAGGACCAACAC CACCACCACTACTACCACTACTATAACCATCACCACCATCACTGCTATAA TCACCACCACCACCACCATCACTATAATCATCACCATCATCACCACTATA ACCACCACCACCACCACCACCACCAGTTATAACCATCACCACCACTA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01928.hp1 HG01074.hp2 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0065 a0001c0002t0002g0063 a0001c0001t0001g0065 a0001c0002t0002g0063	2	84	0.0238	596	c.724 others(615): Show c.724-10828_724-10827insTAGTGGTGGTGATGGTTATAACTGGT GGTGGTGGTGGTGGTGGTGGTTATAGTGGTGATGATGGTGATGATTATAG TGATGGTGGTGGTGGTGGTGATTATAGCAGTGATGGTGGTGATGGTTATA GTAGTGGTAGTAGTGGTGGTGGTGTTGGTCCTGGTTGGTCCTGGTTGGTC CTATCCCTGGTTGGTCCTGTGTTTATGACTCCTGCTATGAACACTTCTTG GCATTGGTGGTTATAGTGGTGTTGGTGATGGTTATCATAGTGGTAGTGGT GGTAGTGGTGGTTATAGTGGTAATGATTATAGTGGTGGTGGTGGTGGTGG TGGTGGTTATAGTAGTAATGGTGGTAATGGTTATAGTAGTGGTAGTGGTG GTGATGATGATGGTGGTTATAGTGGTGGTGGTGGTGGTTATAGTGGTGGT GGTGGTAGTGGTGGTTATAGTGGTGATGGTGGTGATGGTTACAGTAGTGG TAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGGTGGTTATA GTGGTGGTGGTGGTAGTGGTGGTTATAGTGGTGATGGTGGTGATGGTTAT AATGGTGGTGGTGGTTATAG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DHRSX_chrX_2214506_2505976	2228116	G G	GGGAGGAA others(589): Show GGGAGGAAGGGAGGGAGGGAAGGAGGGAGGGAGGAAGGGAGGGAGGGAGG GAGGGAGGAAGGGATGGAGGAAGGGAGGGAGGAAGGGAGGGAGGGAGGGA GGAAGGGAGGGAGGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG GAAGGGAGGGAGGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGACGAAGG AAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAAGGAGGGA GGGAGGAAGGGAGGGAGGGAGGGAGGGAGGAAGGGATGGAGGAAGGGAGG GAGGGAGGGAGGAAGGGAGGGAGGGAAGGGAGGGAGGGAGGGAGGAAGGG AGGGAGGGAGGAAGGGAGGGAGGGAAGGGAGGAAGGGAGGGAGGGAGGGA GGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGG AAGGGAGGAAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGAAGGGAGGGA GGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGG GAAGGGAGGGAGGGAGGGAGGAAGGAAGGGAGGGAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0005 a0002c0002t0002g0005	1	40	0.0250	596	c.805 others(613): Show c.805-6888_805-6887insTCCCTCCCTCCCTCCCTCCCTTCCTTCC TCCCTCCCTCCCTCCCTTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCC CTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCCTC CCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCATCCCTTCCTCCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTCCTTCCCTCCCTCCCTTCCTCCCTCC CTCCCTCCCTCCCTCCCTTCCTTCGTCCCTCCCTCCCTCCCTCCCTTCCT CCCTTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTC CCTTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTC CTCCATCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCTT CCCTCCCTCCCTTCCTCC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6			chrX	TogoVar
EXOC2_chr6_480154_698139	519116	A A	AAACCACC others(589): Show AAACCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGA AAACCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGA GAACCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGA GAACCAACACCCACCGAGCGCCTACACTCACCGTCCACACTCGGAGACGA GAACCACCACCCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAAAC CACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAAC CACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAAC CACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00673.hp2 others(22): Show HG00099.hp1 HG00408.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG01070.hp2 HG01081.hp2 HG01106.hp1 HG01123.hp1 HG01175.hp1 HG01884.hp2 HG02080.hp1 HG02300.hp1 HG02300.hp2 HG02886.hp2 HG03669.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04184.hp1 NA18946.hp1 NA18948.hp2 NA19003.hp1 NA19057.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0002t0001 a0001c0003t0003 a0001c0004t0004	a0001c0001t0001g0015 a0001c0001t0001g0040 a0001c0001t0001g0047 others(22): Show a0001c0001t0001g0015 a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0072 a0001c0001t0001g0085 a0001c0001t0001g0092 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0121 a0001c0001t0001g0151 a0001c0001t0001g0184 a0001c0001t0001g0203 a0001c0001t0001g0240 a0001c0001t0001g0252 a0001c0001t0002g0239 a0001c0001t0003g0117 a0001c0001t0003g0257 a0001c0001t0004g0011 a0001c0001t0004g0081 a0001c0001t0005g0075 a0001c0001t0011g0268 a0001c0002t0001g0114 a0001c0003t0003g0012 a0001c0004t0004g0210	25	199	0.1256	596	c.238 others(617): Show c.2380+13352_2380+13353insCTCGTCTCCGAGTGTGGACGGTGA GTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGA GTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGA GTGTCGGCGCTCGGTGCGTGGTGGTTTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAGTGT AGGCGCTCGGTGGGTGTTGGTTCTCGTCTCCGAGTGTGGACGGTGAGTGT CGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAGTGT CGGCGCTCGGTGGGTGGTGGTTTTCGTCTCCGAGTGTGGACGGTGAGTGT CGGCGCTCGGTGGGTGGTGGTT	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	519116	A A	AAACCACC others(589): Show AAACCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGA AAACCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGA GAACCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGA GAACCAACACCCACCGAGCGCCTACACTCACCGTCCACACTCGGAGACGA GAACCACCACCCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGATGAAAC CACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAAC CACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAAC CACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	175	0.0057	596	c.238 others(617): Show c.2380+13352_2380+13353insCTCGTCTCCGAGTGTGGACGGTGA GTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGA GTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGA GTGTCGGCGCTCGGTGCGTGGTGGTTTCATCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAGTGT AGGCGCTCGGTGGGTGTTGGTTCTCGTCTCCGAGTGTGGACGGTGAGTGT CGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAGTGT CGGCGCTCGGTGGGTGGTGGTTTTCGTCTCCGAGTGTGGACGGTGAGTGT CGGCGCTCGGTGGGTGGTGGTT	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	519116	A A	AAACCACC others(589): Show AAACCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGA AAACCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGA GAACCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGA GAACCAACACCCACCGAGCGCCTACACTCACCGTCCACACTCGGAGACGA GAACCACCACCCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAAAC CACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAAC CACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAAC CACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAAC CACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAG	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18972.hp1 NA18970.hp2 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0086 a0001c0001t0002g0049 a0001c0001t0001g0086 a0001c0001t0002g0049	2	176	0.0114	596	c.238 others(617): Show c.2380+13352_2380+13353insCTCGTCTCCGAGTGTGGACGGTGA GTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGA GTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGA GTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGA GTGTCGGCGCTCGGTGCGTGGTGGTTTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAGTGT AGGCGCTCGGTGGGTGTTGGTTCTCGTCTCCGAGTGTGGACGGTGAGTGT CGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAGTGT CGGCGCTCGGTGGGTGGTGGTTTTCGTCTCCGAGTGTGGACGGTGAGTGT CGGCGCTCGGTGGGTGGTGGTT	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	519116	A A	AAACCACC others(589): Show AAACCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGA AAACCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGA GAACCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGA GAACCAACACCCACCGAGCGCCTACACTCACCGTCCACACTCGGAGACGA GAACCACCACCCGAGCGCCGACATTCACCGTCCACACTCGGAGACGAGAA CCACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAAAC CACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAAC CACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAAC CACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAG	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0182 a0001c0003t0003g0182	1	175	0.0057	596	c.238 others(617): Show c.2380+13352_2380+13353insCTCGTCTCCGAGTGTGGACGGTGA GTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGA GTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGA GTGTCGGCGCTCGGTGCGTGGTGGTTTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAA TGTCGGCGCTCGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAGTGT AGGCGCTCGGTGGGTGTTGGTTCTCGTCTCCGAGTGTGGACGGTGAGTGT CGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAGTGT CGGCGCTCGGTGGGTGGTGGTTTTCGTCTCCGAGTGTGGACGGTGAGTGT CGGCGCTCGGTGGGTGGTGGTT	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EZH2_chr7_148802383_148889291	148869593	C C	CGCTCAAA others(589): Show CGCTCAAAGTGCTGGGATTACTGGCGTGAGCCAATGCACTTGGCCATAAA AGCCCATTCTTCAAGGGCCCACTACCTGAGGGAACCTAGGCAAGTTATTT ACTAATTACTTCATCTGCAAAATGAAGACATCCTCTCTGCAGGCACATAC ATGGTAGATACTCAGTAAACACAAGTTGTTCCATTATTTATTCATCTCAT GCCAGCTAGGGAGAATCTTACCATCACCTGTGATGGTAATCAAACTCTCC AAAGAAATAGTTTGACCTGGGTAACAGAAACCAAGTGCTTAGAATCCTAG TATTTGCACTAAAAAGGACCCTATAGGCAGCAATAGCCTTTTTTTTTTTT TTTTTTTTTTTTTTTTGGAGACACAGTCTCACTCTGTCACACAGGCTGGA GTGCAGGGGTGCAAACACGGCTCACTGCAGTCTCTACCTTCTGGGCTCAA GCGACCCTCTCACCTCACTCTCCCATGCAGCTGGGACTACAGGCAAATGC CACCACATGTGGCTAATTTTTTGTAGAAATGGGGCCTCACTTTGTTGTCC AGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03471.hp1 HG03130.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0283 a0001c0001t0001g0284	2	369	0.0054	596	c.-8+ others(613): Show c.-8+14570_-8+14571insAGCTGAGGTGGGAGGATTGCTTGAGCCC AGGAGTTCAAGACCAGCCTGGACAACAAAGTGAGGCCCCATTTCTACAAA AAATTAGCCACATGTGGTGGCATTTGCCTGTAGTCCCAGCTGCATGGGAG AGTGAGGTGAGAGGGTCGCTTGAGCCCAGAAGGTAGAGACTGCAGTGAGC CGTGTTTGCACCCCTGCACTCCAGCCTGTGTGACAGAGTGAGACTGTGTC TCCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGCTATTGCTGCCTATAGG GTCCTTTTTAGTGCAAATACTAGGATTCTAAGCACTTGGTTTCTGTTACC CAGGTCAAACTATTTCTTTGGAGAGTTTGATTACCATCACAGGTGATGGT AAGATTCTCCCTAGCTGGCATGAGATGAATAAATAATGGAACAACTTGTG TTTACTGAGTATCTACCATGTATGTGCCTGCAGAGAGGATGTCTTCATTT TGCAGATGAAGTAATTAGTAAATAACTTGCCTAGGTTCCCTCAGGTAGTG GGCCCTTGAAGAATGGGCTTTTATGGCCAAGTGCATTGGCTCACGCCAGT AATCCCAGCACTTTGAGC	EZH2	ENSG00000106462.12	transcript	ENST00000320356.7	protein_coding	1/19			chr7	TogoVar
GAL3ST2_chr2_241771822_241809287	241805963	T T	TCTGCAGG others(589): Show TCTGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAACCCAGGGATGTCTGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAGC CCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCC GCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCT TCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCTCAGCCCAGGGA CCTCCGCAGGCCACTCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCTTCCCTCCCCCTCAACCCAGGAACCTCTGCAGGCCACCCTCCCTCC CTCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	245	0.0041	596	c.17 others(607): Show c.1797_*1798insCTGCAGGCCACCCTCCCTCCCCCTCAACCCAGGG ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGATGTCTGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCT CCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCTC AACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGAC CTCCGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCC TCCTCAGCCCAGGGACCTCCGCAGGCCACTCTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAACCCAGGAACCTCTGCA GGCCACCCTCCCTCCCTCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCA ACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCAC	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1677		chr2	TogoVar
GPIHBP1_chr8_143208218_143222170	143218244	C C	CAACACCA others(589): Show CAACACCACCCCCACACCACCCCCACACCACCCAACACCACCCCCACACC ACCCCCACACCACCCCCAACACCATCCCCACACCACCCCCAACACCACCC CCAACACCACCCCCAACACCATCCCCACACCACCCCCAACACCACCCCCA ACACCACCCCCAACACCATCCCCACACCACCCCCAACACCACCCCCAACA CCACCCCCAACACCATCCCCACACCACCCCCAACACCACCCCCAACACCA CCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACC CCCAACACCATCCCCACACCACCCCCAACACCACCCCCAACACCACCCCA ACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAAC ACCACCCCCAACACCATCCCCACACCACCCCCAACACCACCCCCAACACC ACCCCCAACACCATCCCCACACCACCCCCAACACCACCCCCAACACCACC CCCAACACCACCCCAACACCACCCCCAACACCATCCCCAACACCACCCCC AACACCACCCCAACACCACCCCCAACACCACCCCCAACACCACCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0007 a0001c0001t0005g0007	1	31	0.0323	596	c.27 others(607): Show c.2726_*2727insAACACCACCCCCACACCACCCCCACACCACCCAA CACCACCCCCACACCACCCCCACACCACCCCCAACACCATCCCCACACCA CCCCCAACACCACCCCCAACACCACCCCCAACACCATCCCCACACCACCC CCAACACCACCCCCAACACCACCCCCAACACCATCCCCACACCACCCCCA ACACCACCCCCAACACCACCCCCAACACCATCCCCACACCACCCCCAACA CCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAACACC ACCCCCAACACCACCCCCAACACCATCCCCACACCACCCCCAACACCACC CCCAACACCACCCCAACACCACCCCCAACACCACCCCCAACACCACCCCC AACACCACCCCCAACACCACCCCCAACACCATCCCCACACCACCCCCAAC ACCACCCCCAACACCACCCCCAACACCATCCCCACACCACCCCCAACACC ACCCCCAACACCACCCCCAACACCACCCCAACACCACCCCCAACACCATC CCCAACACCACCCCCAACACCACCCCAACACCACCCCCAACACCACCCCC AACACCACCCCA	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1075		chr8	TogoVar
GPR173_chrX_53043789_53085615	53074115	T T	TATATATA others(589): Show TATATATAAATATATAAATATACATTTATATATAAATATATAAATATACA TTTATATATAAATATATAAATATACATTTATATATAAATATATAAATATA CATTTATATATAAATATATAAATATACATTTATATATAAATATATATAAA TATACATTTATATATAAATATATATAAATATACATTTATATATAAATATA TATAAATATACATTTATATATAAATATATATAAATATACATGTATATTTA TTCATATATAAATATATATAAATATACATGTATATTTATTCATATATAAA TATATATAAATATACATGTATATTTATTCATATATAAATATATATAAATA TACATGTATATTTATTCATATATAAATATATATAAATATACATGTATATT TATTCATATATAAATATATATAAATATACATGTATATTTATTCATATATA AATATATATAAATATACATGTATATTTATTCATATATAAATATATATAAA TATACATGTATATTTATTCACATATAAATATATATAAATATACATGTATA TTTATTCACATATAAATATATATAAATATACATGTATATTTATTCAC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0125 a0001c0003t0010g0125	1	169	0.0059	596	c.-97 others(613): Show c.-97-2405_-97-2404insTAAATATATAAATATACATTTATATATA AATATATAAATATACATTTATATATAAATATATAAATATACATTTATATA TAAATATATAAATATACATTTATATATAAATATATAAATATACATTTATA TATAAATATATATAAATATACATTTATATATAAATATATATAAATATACA TTTATATATAAATATATATAAATATACATTTATATATAAATATATATAAA TATACATGTATATTTATTCATATATAAATATATATAAATATACATGTATA TTTATTCATATATAAATATATATAAATATACATGTATATTTATTCATATA TAAATATATATAAATATACATGTATATTTATTCATATATAAATATATATA AATATACATGTATATTTATTCATATATAAATATATATAAATATACATGTA TATTTATTCATATATAAATATATATAAATATACATGTATATTTATTCATA TATAAATATATATAAATATACATGTATATTTATTCACATATAAATATATA TAAATATACATGTATATTTATTCACATATAAATATATATAAATATACATG TATATTTATTCACATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GRAMD4_chr22_46615386_46684785	46635552	G G	GTCTTCCC others(589): Show GTCTTCCCTGCCCCGCCCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCT CCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGGCCCGTGTCCTCCCT GCCCCCGCCCCCGGCCACTCCTGTCTTGGGGAGCCGTGTCTTCCCTGCCC CGCCCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCACC CCTGGCCACTCCTGTCCTGGGGGCCCGTGTCCTCCCTGCCCCCGCCCCCG GCCACTCCTGTCCTGGGAGGCCGTGTCCTCCCTGCCCCCACCCCCGGCCA CTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCTGGCCACTCC TGTCCTGGGGAACCGTGTCCTCCCTGCCTCCACCCCTGGCCACTCCTGTC CTGGGGGACCGTGTCTTCCCTGCCCCCGACCCCGGCCACTCCTGTCCTGG GGAACCGTGTCCTGCCTGTCCCCGCCCCCGGCCACTCCTGTCCTGGGAGG CCGTGTCCTCCCTGCCCCCACCCCCGGCCACTCCTGTCCTGGGGGACCGT GTCTTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGAGGCTGTA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0231 a0001c0001t0003g0231	1	268	0.0037	596	c.163 others(613): Show c.163-2286_163-2285insTTCCCTGCCCCGCCCCCGGCCACTCCTG TCCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCT GGGGGCCCGTGTCCTCCCTGCCCCCGCCCCCGGCCACTCCTGTCTTGGGG AGCCGTGTCTTCCCTGCCCCGCCCCCGGCCACTCCTGTCCTGGGGAACCG TGTCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGGCCCGTGTC CTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGAGGCCGTGTCCTCC CTGCCCCCACCCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGC CCCCACCCCTGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCTCC ACCCCTGGCCACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCCCGACC CCGGCCACTCCTGTCCTGGGGAACCGTGTCCTGCCTGTCCCCGCCCCCGG CCACTCCTGTCCTGGGAGGCCGTGTCCTCCCTGCCCCCACCCCCGGCCAC TCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCCCGCCCCCGGCCACTCCT GTCCTGGGAGGCTGTATC	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46635562	C C	CCCCGCCC others(589): Show CCCCGCCCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCC ACCCCTGGCCACTCCTGTCCTGGGGGCCCGTGTCCTCCCTGCCCCCGCCC CCGGCCACTCCTGTCTTGGGGAGCCGTGTCCTCCCTGCCCCCGACCCCGG CCACTCCTGTCTTGGGGAGCCGTGTCCTCCCTGCCCCCACCCCCGGCCAC TCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCTGGCCACTCCT GTCCTGGGGAACCGTGTCCTCCCTGCCTCCACCCCTGGCCACTCCTGTCC TGGGGGACCGTGTCTTCCCTGCCCCCGACCCCGGCCACTCCTGTCCTGGG GAACCGTGTCCTGCCTGTCCCCGCCCCCGGCCACTCCTGTCCTGGGAGGC CGTGTCCTCCCTGCCCCCACCCCCGGCCACTCCTGTCCTGGGGGACCGTG TCTTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGAGGCTGTATCCT CCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGAGGCCGTGTCCTCCCT GCCCCCACCCCCGGCCACTCCTGTCCTGGGGGACCGTGTCTTCCCTG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0224 a0001c0001t0003g0224	1	323	0.0031	596	c.163 others(613): Show c.163-2275_163-2274insGCCCCCGGCCACTCCTGTCCTGGGGAAC CGTGTCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGGCCCGTG TCCTCCCTGCCCCCGCCCCCGGCCACTCCTGTCTTGGGGAGCCGTGTCCT CCCTGCCCCCGACCCCGGCCACTCCTGTCTTGGGGAGCCGTGTCCTCCCT GCCCCCACCCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCC CCACCCCTGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCTCCAC CCCTGGCCACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCCCGACCCC GGCCACTCCTGTCCTGGGGAACCGTGTCCTGCCTGTCCCCGCCCCCGGCC ACTCCTGTCCTGGGAGGCCGTGTCCTCCCTGCCCCCACCCCCGGCCACTC CTGTCCTGGGGGACCGTGTCTTCCCTGCCCCCGCCCCCGGCCACTCCTGT CCTGGGAGGCTGTATCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTG GGAGGCCGTGTCCTCCCTGCCCCCACCCCCGGCCACTCCTGTCCTGGGGG ACCGTGTCTTCCCTGCCC	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRTP1_chr13_113319163_113369130	113346904	G G	GCCTGACA others(589): Show GCCTGACAGTGGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGA GGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGCCTGACAGT GGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGT GGCTGAGAACAGACCCAGGAGGACCTCTGTGGCCGAGAGCAGACCCAGGA GGACCTCTGTGGCCGAGAGCAGACCCAGGAGGACCTCTGTGGCTGACAGT GGACCCGGGAGGACCTCTGTGGCTGAGAGCAGACCCGGGAGGACCTCTGT GGCCGAGAGCAGACCTGGGAGGACCTCTGTGGCTGACAGTGGACCCGGGA GGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCTGAGAACAG ACCCGGGAGGACCTCTGTGGCTGACAGTGGACCCGGGAGGACCTCTGTGG CTGAGAGCAGACCCAGGAGCACCTCTGTGCCTGACAGTGGACCCGGGAGG ACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCTGAGAACAGAC CCGGGAGGACCTCTGTGGCCGAGAACAGATCCGGGAGGACCTCTGAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	247	0.0040	596	c.466 others(613): Show c.466-1946_466-1945insTTCAGAGGTCCTCCCGGATCTGTTCTCG GCCACAGAGGTCCTCCCGGGTCTGTTCTCAGCCACAGAGGTCCTCCCAGA TCCGCTCAGCCACAGAGGTCCTCCCGGGTCCACTGTCAGGCACAGAGGTG CTCCTGGGTCTGCTCTCAGCCACAGAGGTCCTCCCGGGTCCACTGTCAGC CACAGAGGTCCTCCCGGGTCTGTTCTCAGCCACAGAGGTCCTCCCAGATC CGCTCAGCCACAGAGGTCCTCCCGGGTCCACTGTCAGCCACAGAGGTCCT CCCAGGTCTGCTCTCGGCCACAGAGGTCCTCCCGGGTCTGCTCTCAGCCA CAGAGGTCCTCCCGGGTCCACTGTCAGCCACAGAGGTCCTCCTGGGTCTG CTCTCGGCCACAGAGGTCCTCCTGGGTCTGCTCTCGGCCACAGAGGTCCT CCTGGGTCTGTTCTCAGCCACAGAGGTCCTCCCGGGTCCACTGTCAGGCA CAGAGGTCCTCCCGGGTCCACTGTCAGGCACAGAGGTCCTCCCGGGTCCA CTGTCAGGCACAGAGGTCCTCCCGGGTCCACTGTCAGGCACAGAGGTCCT CCCGGGTCCACTGTCAGG	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GSE1_chr16_85608322_85681200	85653213	C C	CCCCCCCT others(589): Show CCCCCCCTCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCC CCCTCCTCCCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCCCCCTCCCCCC TCCTCCCCCCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCC CTCCTCCCCCCCCTCCTCCCCCCCTCCTCCCCCCCTCCCCCCTCCCCCCC TCCTCCCCCCCTCCCCCCTCCCCCCCTCCCCCCTCCCCCCTCCTCCCCCC CCCTCCCCCCCTCCTCCCCCCCTCCCCCCTCCTCCCCCCCCTCCTCCCCC CTCCTCCCCCCCCTCCCCCCTCCTCCCCCCCCTCCTCCCCCCTCCTCCCC CCCCCTCCCCCTCCCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCC CCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCTCCCCCCCTCCCCC CCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCCCC CCTCCTCCCCCCTCCTCCCCCCCTCCCCCCCCTCCTCCCCCCCTCCTCCC CCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	278	0.0036	596	c.427 others(613): Show c.427-1065_427-1064insCCCCCCTCCCCCTCCTCCCCCCTCCTCC CCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCTCCCCCCTCCT CCCCCCCTCCCCCCTCCCCCCTCCTCCCCCCCCCTCCCCCCTCCTCCCCC CTCCTCCCCCCTCCTCCCCCCCTCCTCCCCCCCCTCCTCCCCCCCTCCTC CCCCCCTCCCCCCTCCCCCCCTCCTCCCCCCCTCCCCCCTCCCCCCCTCC CCCCTCCCCCCTCCTCCCCCCCCCTCCCCCCCTCCTCCCCCCCTCCCCCC TCCTCCCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCCCCCTCCTCCCCC CCCTCCTCCCCCCTCCTCCCCCCCCCTCCCCCTCCCCCCTCCCCCCTCCT CCCCCCTCCTCCCCCCCCTCCCCCCCTCCCCCCTCCTCCCCCCTCCTCCC CCCCTCCTCCCCCCCTCCCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCC CCCCTCCTCCCCCCCTCCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCCCC CCCTCCTCCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCC CCCCCTCCTCCTCCTCCT	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15			chr16	TogoVar
GTPBP4_chr10_983434_1024932	1010845	A A	ACTCTGGT others(589): Show ACTCTGGTGGAGATGCTGGGCCCCTTCATTCTCCTGCATCCCTCCATCCT GACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCTGGTGGAGATG CTGGGCCTCTTCATTCTCCTGCACCCCTCCATCCTGACTCTGCCCCCTAC ACCACCTTCCCCACCCCGAGACTCTGGTGGAGATGCTGGGCCCCTTCATT CTCCTGCACCCCTCCATCCTGACTCTGCCCCCTACACCACCTTCCCCACC CCGAGACTCTGGTGGAGATGCTGGGCCCCTTCATTCTCCTGCATCCCTCC ATCCTGACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCTGGTGG AGATGCTGGGCCCCTTCATTCTCCTGCATCCCTCCATCCTGACTCTGCCC CCTACACCACCTTCCCCACCCCGAGACTCTGGTGGAGATGCTGGGCCTCT TCATTCTCCTGCACCCCTCCATCCTGACTCTGCCCCCTACACCACCTTCC CCACCCCGAGACTCTGGTGGAGATGCTGGGCCCCTTCATTCTCCTGCACC CCTCCATCCTGACTCTGCCTCCTGCACCTCTTCCCTGTCCCGACACT	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	65	0.0154	596	c.134 others(613): Show c.1344+327_1344+328insCTGGTGGAGATGCTGGGCCCCTTCATTC TCCTGCATCCCTCCATCCTGACTCTGCCCCCTACACCACCTTCCCCACCC CGAGACTCTGGTGGAGATGCTGGGCCTCTTCATTCTCCTGCACCCCTCCA TCCTGACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCTGGTGGA GATGCTGGGCCCCTTCATTCTCCTGCACCCCTCCATCCTGACTCTGCCCC CTACACCACCTTCCCCACCCCGAGACTCTGGTGGAGATGCTGGGCCCCTT CATTCTCCTGCATCCCTCCATCCTGACTCTGCCCCCTACACCACCTTCCC CACCCCGAGACTCTGGTGGAGATGCTGGGCCCCTTCATTCTCCTGCATCC CTCCATCCTGACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCTG GTGGAGATGCTGGGCCTCTTCATTCTCCTGCACCCCTCCATCCTGACTCT GCCCCCTACACCACCTTCCCCACCCCGAGACTCTGGTGGAGATGCTGGGC CCCTTCATTCTCCTGCACCCCTCCATCCTGACTCTGCCTCCTGCACCTCT TCCCTGTCCCGACACTCT	GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
GTPBP6_chrX_299759_323796	322498	A A	AAAAAAAA others(589): Show AAAAAAAAAAAAAAAAAGAAAAGAAAAATTAGCCGGGCGTGGTGGTGGGT GCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGC CCAGGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTAC AAAAAAAAAAAAAAAAAAGAAAAGCCGGGCGTGGTGGTGGGTTCCTGTGG TCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGT TTGACGCCAGCATGGGCAATATGGTAAGACCCTATTATCTACAAAAAAAA AAAAAAAAAAAAAAAAGAAAGAAAAATTAGCCTGGTGTGGTGGTGGGTGC CTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCC AGGAGTTTGACGCCAGCATGGGCAATATGGTAAGACCCTATTATCTACAA AAAAAAAAAAAAAAAAAGAAAAAAATTAGCCGGGCGTGGTGGTGGGTGCC TGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCA GGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0011 a0004c0006t0003g0011	1	140	0.0071	596	c.-37 others(607): Show c.-3712_-3711insGTAGATAATGGGGTCTTACCATATTGCCCATGCT GGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGC AGCTGGGACCACAGGCACCCACCACCACGCCCGGCTAATTTTTTTCTTTT TTTTTTTTTTTTTTTGTAGATAATAGGGTCTTACCATATTGCCCATGCTG GCGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCA GCTGGGACCACAGGCACCCACCACCACACCAGGCTAATTTTTCTTTCTTT TTTTTTTTTTTTTTTTTTTTTGTAGATAATAGGGTCTTACCATATTGCCC ATGCTGGCGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCC CGAGCAGCTGGGACCACAGGAACCCACCACCACGCCCGGCTTTTCTTTTT TTTTTTTTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTGGT GTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGC TGGGACCACAGGCACCCACCACCACGCCCGGCTAATTTTTCTTTTCTTTT TTTTTTTTTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		3703		chrX	TogoVar
GTPBP6_chrX_299759_323796	322499	A A	AAAAAAAA others(589): Show AAAAAAAAAAAAAAAAAGAAAAGAAAAATTAGCCGGGCGTGGTGGTGGGT GCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGC CCAGGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTAC AAAAAAAAAAAAAAAAAAGAAAAGCCGGGCGTGGTGGTGGGTTCCTGTGG TCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGT TTGACGCCAGCATGGGCAATATGGTAAGACCCTATTATCTACAAAAAAAA AAAAAAAAAAAAAAAAGAAAGAAAAATTAGCCTGGTGTGGTGGTGGGTGC CTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCC AGGAGTTTGACGCCAGCATGGGCAATATGGTAAGACCCCATTATCTACAA AAAAAAAAAAAAAAAAAGAAAAAAATTAGCCGGGCGTGGTGGTGGGTGCC TGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCA GGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp2 NA19080.hp1 NA18956.hp1 NA18956.hp2 NA19080.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0001 a0001c0001t0002g0039 a0002c0002t0001g0030 a0001c0001t0002g0001 a0001c0001t0002g0039 a0002c0002t0001g0030	3	106	0.0283	596	c.-37 others(607): Show c.-3713_-3712insGTAGATAATGGGGTCTTACCATATTGCCCATGCT GGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGC AGCTGGGACCACAGGCACCCACCACCACGCCCGGCTAATTTTTTTCTTTT TTTTTTTTTTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTG GCGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCA GCTGGGACCACAGGCACCCACCACCACACCAGGCTAATTTTTCTTTCTTT TTTTTTTTTTTTTTTTTTTTTGTAGATAATAGGGTCTTACCATATTGCCC ATGCTGGCGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCC CGAGCAGCTGGGACCACAGGAACCCACCACCACGCCCGGCTTTTCTTTTT TTTTTTTTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTGGT GTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGC TGGGACCACAGGCACCCACCACCACGCCCGGCTAATTTTTCTTTTCTTTT TTTTTTTTTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		3704		chrX	TogoVar
GTPBP6_chrX_299759_323796	322499	A A	AAAAAAAA others(589): Show AAAAAAAAAAAAAAAAAGAAAAGAAAAATTAGCCGGGCGTGGTGGTGGGT GCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGC CCAGGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCCCATTATCTA CAAAAAAAAAAAAAAAAAAGAAAAGCCGGGCGTGGTGGTGGGTTCCTGTG GTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAG TTTGACGCCAGCATGGGCAATATGGTAAGACCCTATTATCTACAAAAAAA AAAAAAAAAAAAAAAAAGAAAGAAAAATTAGCCTGGTGTGGTGGTGGGTG CCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCC CAGGAGTTTGACGCCAGCATGGGCAATATGGTAAGACCCCATTATCTACA AAAAAAAAAAAAAAAAAGAAAAAAATTAGCCGGGCGTGGTGGTGGGTGCC TGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCA GGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	104	0.0096	596	c.-37 others(607): Show c.-3713_-3712insGTAGATAATGGGGTCTTACCATATTGCCCATGCT GGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGC AGCTGGGACCACAGGCACCCACCACCACGCCCGGCTAATTTTTTTCTTTT TTTTTTTTTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTGG CGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAG CTGGGACCACAGGCACCCACCACCACACCAGGCTAATTTTTCTTTCTTTT TTTTTTTTTTTTTTTTTTTTGTAGATAATAGGGTCTTACCATATTGCCCA TGCTGGCGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCC GAGCAGCTGGGACCACAGGAACCCACCACCACGCCCGGCTTTTCTTTTTT TTTTTTTTTTTTGTAGATAATGGGGGTCTTACCATATTGCCCATGCTGGT GTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGC TGGGACCACAGGCACCCACCACCACGCCCGGCTAATTTTTCTTTTCTTTT TTTTTTTTTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		3704		chrX	TogoVar
GTPBP6_chrX_299759_323796	322517	G G	GAAAAGAA others(589): Show GAAAAGAAAAATTAGCCGGGCGTGGTGGTGGGTGCCTGTGGTCCCAGCTG CTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACACCA GCATGGGCAATATGGTAAGACCCCATTATCTACAAAAAAAAAAAAAAAAA AGAAAAGCCGGGCGTGGTGGTGGGTTCCTGTGGTCCCAGCTGCTCGGGAC GCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACGCCAGCATGGGC AATATGGTAAGACCCTATTATCTACAAAAAAAAAAAAAAAAAAAAAAAAG AAAGAAAAATTAGCCTGGTGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCT CGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACGCCAGC ATGGGCAATATGGTAAGACCCCATTATCTACAAAAAAAAAAAAAAAAAAG AAAAAAATTAGCCGGGCGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTCG GGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACACCAGCAT GGGCAATATGGTAAGACCCCATTATCTACAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0002 a0009c0012t0002	a0009c0012t0002g0037 a0009c0012t0002g0037	1	43	0.0233	596	c.-37 others(607): Show c.-3731_-3730insTTTTTTTTTTTTTTTTTTGTAGATAATGGGGTCT TACCATATTGCCCATGCTGGTGTCAAACTCCTGGGCTCAAGCAATCCTCC CACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCACCCACCACCACGCCC GGCTAATTTTTTTCTTTTTTTTTTTTTTTTTTGTAGATAATGGGGTCTTA CCATATTGCCCATGCTGGCGTCAAACTCCTGGGCTCAAGCAATCCTCCCA CCTCAGCGTCCCGAGCAGCTGGGACCACAGGCACCCACCACCACACCAGG CTAATTTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTGTAGATAATAGG GTCTTACCATATTGCCCATGCTGGCGTCAAACTCCTGGGCTCAAGCAATC CTCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGAACCCACCACCAC GCCCGGCTTTTCTTTTTTTTTTTTTTTTTTGTAGATAATGGGGTCTTACC ATATTGCCCATGCTGGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACC TCAGCGTCCCGAGCAGCTGGGACCACAGGCACCCACCACCACGCCCGGCT AATTTTTCTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		3722		chrX	TogoVar
GTPBP6_chrX_299759_323796	322517	G G	GAAAAGAA others(589): Show GAAAAGAAAAATTAGCCGGGCGTGGTGGTGGGTGCCTGTGGTCCCAGCTG CTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACACCA GCATGGGCAATATGGTAAGACCCCATTATCTACAAAAAAAAAAAAAAAAA AGAAAAGCCGGGCGTGGTGGTGGGTTCCTGTGGTCCCAGCTGCTCGGGAC GCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACGCCAGCATGGGC AATATGGTAAGACCCTATTATCTACAAAAAAAAAAAAAAAAAAAAAAAGA AAGAAAAATTAGCCTGGTGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTC GGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACGCCAGCA TGGGCAATATGGTAAGACCCCATTATCTACAAAAAAAAAAAAAAAAAAGA AAAAAATTAGCCGGGCGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTCGG GACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACACCAGCATG GGCAATATGGTAAGACCCCATTATCTACAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	43	0.0233	596	c.-37 others(607): Show c.-3731_-3730insTTTTTTTTTTTTTTTTTTTGTAGATAATGGGGTC TTACCATATTGCCCATGCTGGTGTCAAACTCCTGGGCTCAAGCAATCCTC CCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCACCCACCACCACGCC CGGCTAATTTTTTTCTTTTTTTTTTTTTTTTTTGTAGATAATGGGGTCTT ACCATATTGCCCATGCTGGCGTCAAACTCCTGGGCTCAAGCAATCCTCCC ACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCACCCACCACCACACCAG GCTAATTTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTGTAGATAATAGG GTCTTACCATATTGCCCATGCTGGCGTCAAACTCCTGGGCTCAAGCAATC CTCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGAACCCACCACCAC GCCCGGCTTTTCTTTTTTTTTTTTTTTTTTGTAGATAATGGGGTCTTACC ATATTGCCCATGCTGGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACC TCAGCGTCCCGAGCAGCTGGGACCACAGGCACCCACCACCACGCCCGGCT AATTTTTCTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		3722		chrX	TogoVar
IDE_chr10_92446684_92579093	92524325	T T	TATTATAT others(589): Show TATTATATTATATATAATATATTTTATATAATATATAATATATATTATAT TATATATAATATATTTTATATAATATATAATATATATTATATTATATATA ATATATAATATATATTATATTATATATAATATATTTTATATAATATATAA TATATATTATATTATATATAATATATTTTATATAATATATAATATATATT ATATTATATATAATATATTTTATATAATATATAATATATATTATATTATA TATATTTTATATAATATATAATATATATTATATTATATATATTTTATATA ATATATAATATATATTATATTATATATAATATATTTTATATAATATATAA TATATATTATATTATATATAATATATTTTATATAATATATAATATATATT ATATTATATATAATATATTTTATATAATATATAATATATATTATATTATA TATAATATATTTTATATAATATATAATATATATTATATTATATATAATAT ATTTTATATAATATATAATATATATTATATTATATATAATATATTTTATA TAATATATAATATATATTATATTATATATAATATATTTTATATAATA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0302 a0001c0001t0002g0302	1	251	0.0040	596	c.661 others(613): Show c.661+7422_661+7423insTATTATATAAAATATATTATATATAATA TAATATATATTATATATTATATAAAATATATTATATATAATATAATATAT ATTATATATTATATAAAATATATTATATATAATATAATATATATTATATA TTATATAAAATATATTATATATAATATAATATATATTATATATTATATAA AATATATTATATATAATATAATATATATTATATATTATATAAAATATATT ATATATAATATAATATATATTATATATTATATAAAATATATTATATATAA TATAATATATATTATATATTATATAAAATATATATAATATAATATATATT ATATATTATATAAAATATATATAATATAATATATATTATATATTATATAA AATATATTATATATAATATAATATATATTATATATTATATAAAATATATT ATATATAATATAATATATATTATATATTATATAAAATATATTATATATAA TATAATATATATTATATATTATATATAATATAATATATATTATATATTAT ATAAAATATATTATATATAATATAATATATATTATATATTATATAAAATA TATTATATATAATATAAT	IDE	ENSG00000119912.18	transcript	ENST00000265986.11	protein_coding	4/24			chr10	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(589): Show CCTCCTCCCCCCACCCACCCCTCCCTCTCCTCCCCCCAACCACCCTGTCC TCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCCA CCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTCC CCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCACC TCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCCCC TCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCTCCTC CTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCTCCC CCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTC CTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCC TCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACC TCCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCT CCCACTCCTCCTCCCCGTCTTCCTCCCCCACCTCCCCCCTCCTCCCA	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0186 a0001c0001t0002g0186	1	11	0.0909	596	c.10- others(613): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCTCTCCTCCCCC CAACCACCCTGTCCTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCCC CCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCA CCTCCTCCTCCTCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCT CCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTC CTCCTCTCCCCCCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCT GCTCTCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCC CCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCC CCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCC CCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCTGT CTTCCTCCCCCACCTCCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCC ACCTCCCCCCTCCTCCCACTCCTCCTCCCCGTCTTCCTCCCCCACCTCCC CCCTCCTCCCACTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
KANK1_chr9_499695_751103	514126	C C	CCCTCCTT others(589): Show CCCTCCTTCTCTCCCTCCCTCCCTCCCTCTCTTCCTCCCTCCCTCCCTCC CTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCT CCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCTCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCTCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCTCTTCCTCCCT CTCTCCCTCCTTCTCTCCCTCCCTTCCTCTCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTTCCTCTCTCCCT CCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCC CTCCCTCTCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT TCCTCTCTCCCTCCCTCCCTCCCTCTCTTCCTCCCTCTCTCCCTCCTTCT CTCCCTCCCTCCCTTCCTCTCTCCCTTCCTCCCTCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0013 a0013	a0013c0010 a0013c0010	a0013c0010t0004 a0013c0010t0004	a0013c0010t0004g0079 a0013c0010t0004g0079	1	247	0.0040	596	c.-84 others(613): Show c.-84+9372_-84+9373insCCTCCTTCTCTCCCTCCCTCCCTCCCTC TCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCC TCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCCTC CCTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCC TCTCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCTCTC CCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCC TCCCTCCCTCTCTTCCTCCCTCTCTCCCTCCTTCTCTCCCTCCCTTCCTC TCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCC TCCCTCCCTTCCTCTCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTC CCTTCCTCTCTCCCTCCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCTCTT CCTCCCTCTCTCCCTCCTTCTCTCCCTCCCTCCCTTCCTCTCTCCCTTCC TCCCTCCCTCCCTCCCTT	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11			chr9	TogoVar
KCNH8_chr3_19143510_19540642	19270059	T T	TAGTGTAC others(589): Show TAGTGTACAGTAATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTA TACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATAT GTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGC ATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCA CAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTG TTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCT TGCGATAGTTTACTGAGAATCATGGTTTCCAATTTCATCCATGTCCCTAC AAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGT ATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGT TGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGT GCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATACCCA GTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0010 a0002c0002t0001g0010	1	132	0.0076	596	c.311 others(615): Show c.311-11122_311-11121insTTTTTTTTTTTTTTTTTTTTTTTTTT TTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTT ACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCA TCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACC CCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATC TCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTT TGTTCTTGCGATAGTTTACTGAGAATCATGGTTTCCAATTTCATCCATGT CCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCA TGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACAT TTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACAT ACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATA TACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCC CTGAGTGTACAGTAATCTTT	KCNH8	ENSG00000183960.9	transcript	ENST00000328405.7	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
LINGO2_chr9_27932617_29218601	28189537	G G	GAGGAAGG others(589): Show GAGGAAGGAAGGGAGGGAAGAAGGAAGGGAGGGAGGGAGGAAGGAAGGGA GGGAGGAAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGG GAGGAAGGAAGGAAGTGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGAA GTGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGAAGGAAGGAAGG AAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGGAGGAAGAAAGGAAGGAA GGGAGGAAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGG AAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGGA GGGAGGAAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGG AAGGAAGGGAGGAAGAAAGGAAGGAAGGGAGGAAGGGAGGAAGGAAGGGA GGGAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAA GGGAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0026 a0001c0001t0024g0026	1	17	0.0588	596	c.-36 others(617): Show c.-36+105670_-36+105671insTCCTTCCTCCCTCCCTTCCTTCCT TCCTCCCTCCCTTCCTTCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCC CTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCT CCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTTCCTCCCTTC CTTCCTTTCTTCCTCCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCT CCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTC CTTCCTTCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCT CCCTTCCTTCCTCCCTTCCTCCCTTCCTTCCTTTCTTCCTCCCTTCCTTC CTTCCTTCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCT CCCTCCCTTCCTTCCTCCCTCACTTCCTTCCTTCCTCCCTCCCTTCCTTC CTCCCTCACTTCCTTCCTTCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCT CCCTTCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTC CTTCTTCCCTCCCTTCCTTCCT	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	6/6			chr9	TogoVar
LMF1_chr16_848634_975984	953447	C C	CACCAGCG others(589): Show CACCAGCGTCCTACACGTCCACACAGACACCCCAAACCAGCCTCCTACAC GTCCACACAGACACCCACCCCAAACCAGCCTCCTACACGTCCACACAGAC ACCCACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCACA CCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCTAC ACGTCCACACAGACACCCACCCCACACCAGCGTCCTACACGTCCACACAG ACACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACC AGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCTACAC GTCCACACAGACACACACCCCACACCAGCCTCCTACACGTCCACACAGAC ACCCACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCACA CCAGCGTCCTACACGTCCACACAGACACCCCAAACCAGCCTCCTACACGT CCACACAGACACCCACCCCACACCAGCCTCCTACACGTCCACACAGACAC CCACTCCAAACCAGCCTCTTACACGTCCACACAGACACCCACCCCAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0007 a0007	a0007c0046 a0007c0046	a0007c0046t0004 a0007c0046t0004	a0007c0046t0004g0036 a0007c0046t0004g0036	1	118	0.0085	596	c.503 others(611): Show c.503+909_503+910insTTGGGGTGGGTGTCTGTGTGGACGTGTAAG AGGCTGGTTTGGAGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGG GGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTGTCTGTGTG GACGTGTAGGACGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAG GCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGG TGTGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTG TGGACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGTAGG AGGCTGGTTTGGGGTGTCTGTGTGGACGTGTAGGACGCTGGTGTGGGGTG GGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTG GACGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAG GCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGG TGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTGTCTGTGTGGA CGTGTAGGACGCTGGT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LRP8_chr1_53237364_53333070	53283522	C C	CACTTACT others(589): Show CACTTACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGG GCCACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACCC GGGCCACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGG GCCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCC GGGCCACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATAC CCGGGCCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACT ACATACCCGGGCCACTTACTTACTTACTACATACCCGGGCCACTTACTTA CTACATACCCGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACT TACTACATACCCGGGCCACTTACTTACTTACTACATACCCGGGCCACTTA CTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGCCACTTACT TACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGCCACTTA CTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGCC	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0034 a0001c0004t0034	a0001c0004t0034g0022 a0001c0004t0034g0022	1	255	0.0039	596	c.368 others(613): Show c.368-2808_368-2807insGGCCCGGGTATGTAGTAAGTAAGTGGCC CGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGG CCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGT GGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAA GTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGT AAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAA GTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGT AAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTA TGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATG TAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTA TGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGG TATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTA TGTAGTAAGTAAGTAAGT	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRRC27_chr10_132327193_132386508	132364373	C C	CCACGCTT others(589): Show CCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTAC ACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTT ACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCTTAC ATCTACCTCCACACCCACACTTACACCCACCCACACTTACACCCACCCTT ACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCC TTACATCTACCTCCACACCCACACTTACACCCACGCTTACATCTACCTCC ACGCCCACACTCACACCCACCCACACTCACACCCACCCTTACATCTACCT CCACACCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTAC CTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTTACATCT ACCTCCACACCCACACTTACACCCACGCTTACATCTACCTCCACGCCCAC ACTTACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCC ACACTCACACCCACCCACACTCACACCCACCCTTACATCTACCTCCA	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0051 a0001c0002t0051	a0001c0002t0051g0226 a0001c0002t0051g0226	1	242	0.0041	596	c.129 others(615): Show c.1290-1048_1290-1047insGCTTACATCTACCTCCACACCCACAC TCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCAC ACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCC ACACTCACACCCACCCTTACATCTACCTCCACACCCACACTTACACCCAC CCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCC ACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTTACAC CCACGCTTACATCTACCTCCACGCCCACACTCACACCCACCCACACTCAC ACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTT ACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACAC TTACACCCACCCTTACATCTACCTCCACACCCACACTTACACCCACGCTT ACATCTACCTCCACGCCCACACTTACACCCACCCACACTTACACCCACCC TTACATCTACCTCCACACCCACACTCACACCCACCCACACTCACACCCAC CCTTACATCTACCTCCACAC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LUC7L_chr16_183990_234449	186782	G G	GGAGGAAC others(589): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGC GACACGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGG GGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACAC GGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGAGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACA GCGACACGGGGGGGACAGCGACACGGGGGGAACAGCGACACGGGGGAGGA ACAGCGACACGGGGGGGGAACAGCGACACGGGAGGGAGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGAGGGAGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	306	0.0033	596	c.24 others(607): Show c.2415_*2416insTCCCTCCCGTGTCGCTGTTCCCCCCGTGTCGCTG TTCCCCCCGTGTCGCTGTTCCTCCCTCCCGTGTCGCTGTTCCCCCCGTGT CGCTGTTCCCCCCGTGTCGCTGTTCCTCCCTCCCGTGTCGCTGTTCCCCC CCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTC CCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCT GTTCCCCCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCCCCCGTGTCG CTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCTCCGTGTC GCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCG TGTCGCTGTTCCCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCC TCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGT TCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCG CTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTG TCGCTGTTCCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2207		chr16	TogoVar
LY75_chr2_159798355_159909756	159874319	G G	GTTTTGTA others(589): Show GTTTTGTAAATATATATAAATATATATATGTTTTGTAAATATATATAAAT ATATATATGTTTTGTAAATATATATAAATATATATGTTTTGTAAATATAT ATAAATATATATGTTTTGTAAATATATATAAATATATATATGTTTTGTAA ATATATAAATATATATTTTGTAAATATATATATATTTTGTAAATATATAT TGTAACTATATATAAATATATATTTTGTGAATTATATATATATTGTAAAT TATATATATATTTTGTAAATATATATAGTAAATATATATATTTTGTAAAT ATGTATATATATTTTGTAAATATATATATTTTGTAAATATGTATATATAT TTTGTAAATATATACATTTTGTAAATATATAAATATATACATTTTGTAAA TATATAAAAATATATACATTTTGTAAATATATAAAAATATATGTTGTAAA TATATAAAAATATATATATTTTGTAAATATATAAATATATATATTTTGTA AATATATATATATTTTGTAAATATATATAAATATATACATATTTTGTAAA TATATAAATATATACATATTTTGTAAATCTATATAAATATATACATA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0035 a0035	a0035c0040 a0035c0040	a0035c0040t0001 a0035c0040t0001	a0035c0040t0001g0010 a0035c0040t0001g0010	1	40	0.0250	596	c.197 others(615): Show c.1974+1124_1974+1125insTATGTATATATTTATATAGATTTACA AAATATGTATATATTTATATATTTACAAAATATGTATATATTTATATATA TTTACAAAATATATATATATTTACAAAATATATATATTTATATATTTACA AAATATATATATTTTTATATATTTACAACATATATTTTTATATATTTACA AAATGTATATATTTTTATATATTTACAAAATGTATATATTTATATATTTA CAAAATGTATATATTTACAAAATATATATACATATTTACAAAATATATAT ATTTACAAAATATATATACATATTTACAAAATATATATATTTACTATATA TATTTACAAAATATATATATAATTTACAATATATATATAATTCACAAAAT ATATATTTATATATAGTTACAATATATATTTACAAAATATATATATATTT ACAAAATATATATTTATATATTTACAAAACATATATATATTTATATATAT TTACAAAACATATATATTTATATATATTTACAAAACATATATATTTATAT ATATTTACAAAACATATATATATTTATATATATTTACAAAACATATATAT ATTTATATATATTTACAAAA	LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	12/34			chr2	TogoVar
MBD3L3_chr19_7051207_7063676	7061874	T T	TTATATAA others(589): Show TTATATAATTATATTCTATATAATATAATTATAATATAATTATATAATAT AATTATATTATATAATTATATTATATAATTATAATATAATTATATAATAT AATTATATTATATATAATTATATTAAATATATTATATAATATATAATTAT ATTATATATTATATAATATATAATTATATTATATATTATATAATATATAA TTATATTATACATTATATAATATATAATTATATTATATATTATAATACAT TTAATATAATTATATTATAGATTATAATCTATAATATAATTATATTAATA GTATTATAATATATAATATATTATATATAATTATATTATAACATATTATA TATAATTATATTATAGATCATAATCTATAATATAATTATATATAATATGT TATAATATATAATTATATTCTATATATAATTATATATAATATAATTATAT TCTGTATATAATTATATATAATATAATTATATTCTGTATATAATTATATA TAATATAATTATATTCTGTATATAATTATATATAATTATATTCTATATAT AATATAATTATATATAATTATATACAGAATATAATTATATATAATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	120	0.0083	596	c.-32 others(607): Show c.-3270_-3269insGTATTATATATAATTATATTCTGTATATAATTAT ATATAATTATATTATATATAGAATATAATTATATATAATTATATACAGAA TATAATTATATTATATATAATTATATACAGAATATAATTATATTATATAT AATTATATACAGAATATAATTATATTATATATAATTATATATAGAATATA ATTATATATTATAACATATTATATATAATTATATTATAGATTATGATCTA TAATATAATTATATATAATATGTTATAATATAATTATATATAATATATTA TATATTATAATACTATTAATATAATTATATTATAGATTATAATCTATAAT ATAATTATATTAAATGTATTATAATATATAATATAATTATATATTATATA ATGTATAATATAATTATATATTATATAATATATAATATAATTATATATTA TATAATATATAATATAATTATATATTATATAATATATTTAATATAATTAT ATATAATATAATTATATTATATAATTATATTATAATTATATAATATAATT ATATAATATAATTATATTATATAATTATATTATAATTATATTATATAGAA TATAATTATATA	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3199		chr19	TogoVar
MBTPS1_chr16_84048763_84121942	84051959	C C	CCCGCATG others(589): Show CCCGCATGTGGGTAAGGAGAGCTACAAGGCCCGCATGTGCGTAAGGAGAG CTGCAAGGCCGCATGTGGGTAAGGAGAGCTGCAAGGCCCCATGTGGGTAA GGAGAGCTGCAAGGCCGTATGTGGGTAAGGAGAGCTGCAAGGCCGCATGT GGGTAAGGAGAGCTGCAAGGCCGCATGTGCGTAAGGACAGCTGCAAGACC CCCATGTGGGTAAGGAGAGCGGCAAGGCCCCATGTGGGTAAGGAGAGCGG CAAGGCCCGCATGTGGGTAAGGAGAGCTGCAAGGCCGCATGTGGGTAAGG AGAGCTGCAAGGCCCGCATGTGCGTAAGGACAGCTGCAAGACCCCCATGT GGGTAAGGAGAGCGGCAAGGCCCCATGTGGGTAAGGAGAGCGGCAAGGCC CGCATGTGGGTAAGGAGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCTG CAAGGCCGCACGTGGGTAAGGAGAGCTGCAAGACCCCCATGTGGGTAAGG AGAGCGGCAAGGCCCCATGTGGGTAAGGAGAGCTGCAAGGCCGCATGTGG GTAAGGAGAGCTGCAAGGCCCGCATGTGGGTAAGGAGAGCTGCAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	352	0.0028	596	c.24 others(607): Show c.2489_*2490insCCTTGCAGCTCTCCTTACCCACATGCGGGCCTTG CAGCTCTCCTTACCCACATGCGGCCTTGCAGCTCTCCTTACCCACATGGG GCCTTGCCGCTCTCCTTACCCACATGGGGGTCTTGCAGCTCTCCTTACCC ACGTGCGGCCTTGCAGCTCTCCTTACCCACATGCGGCCTTGCAGCTCTCC TTACCCACATGCGGGCCTTGCCGCTCTCCTTACCCACATGGGGCCTTGCC GCTCTCCTTACCCACATGGGGGTCTTGCAGCTGTCCTTACGCACATGCGG GCCTTGCAGCTCTCCTTACCCACATGCGGCCTTGCAGCTCTCCTTACCCA CATGCGGGCCTTGCCGCTCTCCTTACCCACATGGGGCCTTGCCGCTCTCC TTACCCACATGGGGGTCTTGCAGCTGTCCTTACGCACATGCGGCCTTGCA GCTCTCCTTACCCACATGCGGCCTTGCAGCTCTCCTTACCCACATACGGC CTTGCAGCTCTCCTTACCCACATGGGGCCTTGCAGCTCTCCTTACCCACA TGCGGCCTTGCAGCTCTCCTTACGCACATGCGGGCCTTGTAGCTCTCCTT ACCCACATGCGG	MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding		1803		chr16	TogoVar
MCC_chr5_113017106_113493453	113333800	T T	TGTACATA others(589): Show TGTACATATGTACATATATGTACATATGTACATATATACATATATGTACA TATATGTACATATATGTACATATGTACATATATACATATATGTACATATA TGTACATATGTACATATGTACATATATACATATATGTACATATATGTACA TATGTACATATATGTACATATATGTACATATGTACATATACATATATATG TACATATGTACATATATGTACATATATGTATATATGTACATATATGTACA TATATGTATATATGTACATATATATACATATATGTACATATATGTACATA TGTACATATACATATATATGTACATATGTACATATACGTACATATGTACA TATGTACATATACGTACATATGTACATATGTACATATACGTACATATGTA CATATGTACATATACGTACATATGTACATATGTACATATACGTACATACG TACATATGTACATATACGTACATACGTACATATGTACATATACGTACATA CGTACATATGTACATATACGTACATATGTACATATGTACATATACGTACA TATGTACATATGTACATATACGTACATATGTACATATGTACATATAC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0005 a0003c0014t0005	a0003c0014t0005g0026 a0003c0014t0005g0026	1	154	0.0065	596	c.627 others(613): Show c.627+6718_627+6719insGTATATGTACATATGTACATATGTACGT ATATGTACATATGTACATATGTACGTATATGTACATATGTACATATGTAC GTATATGTACATATGTACGTATGTACGTATATGTACATATGTACGTATGT ACGTATATGTACATATGTACGTATGTACGTATATGTACATATGTACATAT GTACGTATATGTACATATGTACATATGTACGTATATGTACATATGTACAT ATGTACGTATATGTACATATGTACATATGTACGTATATGTACATATGTAC ATATATATGTATATGTACATATGTACATATATGTACATATATGTATATAT ATGTACATATATACATATATGTACATATATGTACATATATACATATATGT ACATATATGTACATATGTACATATATATGTATATGTACATATGTACATAT ATGTACATATATGTACATATGTACATATATGTACATATATGTATATATGT ACATATGTACATATGTACATATATGTACATATATGTATATATGTACATAT GTACATATATGTACATATATGTACATATATGTATATATGTACATATGTAC ATATATGTACATATGTAC	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MEX3D_chr19_1549672_1573325	1550007	C C	CCCATCCA others(589): Show CCCATCCACCTGTTCATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCACCAACCCTCCCATCCATCCACCCATCCATCCACCTGTCCA CCCATCCACCCATTCATCCACCCACCCACCCATCCATCCATCCATCCACC CATCCATTCACTCACCTGCCCATCCACCCATCCATTCACTCACCTGCCCA TCCACCCATCCATGCACTCACCTGCCTATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCAATCATCCACCCACCCATCCATCCATCCA TCCAACCATCCACCCACTCATCTATCCATCCATCCATCCATCCATCCATC CATTTACCCACCCTCTCATCCATCCACCCACCCATCCACTTGTCCACCCA TCCACCTGTTCACCCATCCACCCATCCATCCATCCATCCAACCATCCACC CATCTATCCATCCATCCATCCAACCACTCATCCGTCCATCCATCCATCCA TCCATCCATTTACCCACTCTCCCATCCACCCACCCATCGACTTGTCCACC CATACACCTGTTCACCCATCCACCCATCCATCCATCCATCCATCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00597.hp1 HG00609.hp2 others(78): Show HG00323.hp2 HG00597.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01074.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01175.hp1 HG01243.hp1 HG01255.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG02071.hp1 HG02074.hp2 HG02273.hp1 HG02293.hp2 HG02300.hp1 HG02602.hp2 HG02735.hp1 HG02738.hp1 HG02922.hp1 HG02965.hp1 HG03017.hp1 HG03098.hp1 HG03239.hp2 HG03490.hp2 HG03491.hp1 HG03540.hp1 HG03688.hp2 HG03704.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18947.hp1 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp2 NA19000.hp2 NA19005.hp2 NA19010.hp2 NA19060.hp2 NA19068.hp2 NA19077.hp1 NA19083.hp1 NA19088.hp1 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0008 a0013	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0018 a0002c0005 a0004c0007 a0008c0024 a0013c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013 a0001c0001t0015 a0001c0001t0018 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0002t0004 a0001c0002t0020 a0001c0002t0030 a0001c0003t0002 a0001c0018t0002 a0002c0005t0002 a0004c0007t0002 a0008c0024t0002 a0013c0013t0002	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0051 others(57): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0051 a0001c0001t0001g0061 a0001c0001t0001g0195 a0001c0001t0001g0215 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0031 a0001c0001t0002g0038 a0001c0001t0002g0097 a0001c0001t0002g0104 a0001c0001t0002g0107 a0001c0001t0002g0117 a0001c0001t0002g0121 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0155 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0179 a0001c0001t0002g0200 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0230 a0001c0001t0003g0019 a0001c0001t0003g0021 a0001c0001t0003g0050 a0001c0001t0003g0143 a0001c0001t0003g0193 a0001c0001t0003g0229 a0001c0001t0006g0136 a0001c0001t0006g0139 a0001c0001t0006g0145 a0001c0001t0006g0201 a0001c0001t0006g0220 a0001c0001t0007g0020 a0001c0001t0007g0034 a0001c0001t0013g0142 a0001c0001t0015g0152 a0001c0001t0018g0160 a0001c0001t0026g0146 a0001c0001t0027g0151 a0001c0001t0029g0214 a0001c0002t0004g0029 a0001c0002t0020g0217 a0001c0002t0030g0124 a0001c0003t0002g0035 a0001c0003t0002g0158 a0001c0018t0002g0212 a0002c0005t0002g0156 a0002c0005t0002g0163 a0004c0007t0002g0043 a0004c0007t0002g0236 a0008c0024t0002g0237 a0013c0013t0002g0144	81	271	0.2989	596	c.55 others(607): Show c.5555_*5556insTTGGATGGATGGATGGATGGATGGGTGGATGGGT GAACAGGTGTATGGGTGGACAAGTCGATGGGTGGGTGGATGGGAGAGTGG GTAAATGGATGGATGGATGGATGGATGGACGGATGAGTGGTTGGATGGAT GGATGGATAGATGGGTGGATGGTTGGATGGATGGATGGATGGGTGGATGG GTGAACAGGTGGATGGGTGGACAAGTGGATGGGTGGGTGGATGGATGAGA GGGTGGGTAAATGGATGGATGGATGGATGGATGGATGGATAGATGAGTGG GTGGATGGTTGGATGGATGGATGGATGGGTGGGTGGATGATTGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATAGGCAGGTGAGTGC ATGGATGGGTGGATGGGCAGGTGAGTGAATGGATGGGTGGATGGGCAGGT GAGTGAATGGATGGGTGGATGGATGGATGGATGGGTGGGTGGGTGGATGA ATGGGTGGATGGGTGGACAGGTGGATGGATGGGTGGATGGATGGGAGGGT TGGTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGA ACAGGTGGATGG	MEX3D	ENSG00000181588.17	transcript	ENST00000402693.5	protein_coding		4664		chr19	TogoVar
MEX3D_chr19_1549672_1573325	1550007	C C	CCCATCCA others(589): Show CCCATCCACCTGTTCATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCACCAACCCTCCCATCCATCCACCCATCCATCCACCTG TCCACCCATCCACCCATTCATCCACCCACCCACCCATCCATCCATCCATC CACCCATCCATTCACTCACCTGCCCATCCACCCATCCATTCACTCACCTG CCCATCCACCCATCCATGCACTCACCTGCCTATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCAATCATCCACCCACCCATCCATCCATCCA TCCAACCATCCACCCACTCATCTATCCATCCATCCATCCATCCATCCATC CATTTACCCACCCTCTCATCCATCCACCCACCCATCCACTTGTCCACCCA TCCACCTGTTCACCCATCCACCCATCCATCCATCCATCCAACCATCCACC CATCTATCCATCCATCCATCCAACCACTCATCCGTCCATCCATCCATCCA TCCATCCATTTACCCACTCTCCCATCCACCCACCCATCGACTTGTCCACC CATACACCTGTTCACCCATCCACCCATCCATCCATCCATCCATCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0035 a0001c0003t0002g0035	1	191	0.0052	596	c.55 others(607): Show c.5555_*5556insTTGGATGGATGGATGGATGGATGGGTGGATGGGT GAACAGGTGTATGGGTGGACAAGTCGATGGGTGGGTGGATGGGAGAGTGG GTAAATGGATGGATGGATGGATGGATGGACGGATGAGTGGTTGGATGGAT GGATGGATAGATGGGTGGATGGTTGGATGGATGGATGGATGGGTGGATGG GTGAACAGGTGGATGGGTGGACAAGTGGATGGGTGGGTGGATGGATGAGA GGGTGGGTAAATGGATGGATGGATGGATGGATGGATGGATAGATGAGTGG GTGGATGGTTGGATGGATGGATGGATGGGTGGGTGGATGATTGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATAGGCAGGTGAGTGCATGG ATGGGTGGATGGGCAGGTGAGTGAATGGATGGGTGGATGGGCAGGTGAGT GAATGGATGGGTGGATGGATGGATGGATGGGTGGGTGGGTGGATGAATGG GTGGATGGGTGGACAGGTGGATGGATGGGTGGATGGATGGGAGGGTTGGT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGA ACAGGTGGATGG	MEX3D	ENSG00000181588.17	transcript	ENST00000402693.5	protein_coding		4664		chr19	TogoVar
MEX3D_chr19_1549672_1573325	1550015	C C	CCTGTTCA others(589): Show CCTGTTCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACC AACCCTCCCATCCATCCACCCATCCATCCACCTGTCCACCCATCCACCCA TTCATCCACCCACCCACCCATCCATCCATCCATCCACCCATCCATTCACT CACCTGCCCATCCACCCATCCATTCACTCACCTGCCCATCCACCCATCCA TGCACTCACCTGCCTATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCAATCATCCACCCACCCATCCATCCATCCATCCAACCATCCACCCA CTCATCTATCCATCCATCCATCCATCCATCCATCCATTTACCCACCCTCT CATCCATCCACCCACCCATCCACTTGTCCACCCATCCACCTGTTCACCCA TCCACCCATCCATCCATCCATCCAACCATCCACCCATCTATCCATCCATC CATCCAACCACTCATCCGTCCATCCATCCATCCATCCATCCATTTACCCA CTCTCCCATCCACCCACCCATCGACTTGTCCACCCATACACCTGTTCACC CATCCACCCATCCATCCATCCATCCATCCAACCATCCACCCATCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0010 a0010	a0010c0022 a0010c0022	a0010c0022t0003 a0010c0022t0003	a0010c0022t0003g0235 a0010c0022t0003g0235	1	312	0.0032	596	c.55 others(607): Show c.5547_*5548insATGGATGGGTGGATGGTTGGATGGATGGATGGAT GGATGGGTGGATGGGTGAACAGGTGTATGGGTGGACAAGTCGATGGGTGG GTGGATGGGAGAGTGGGTAAATGGATGGATGGATGGATGGATGGACGGAT GAGTGGTTGGATGGATGGATGGATAGATGGGTGGATGGTTGGATGGATGG ATGGATGGGTGGATGGGTGAACAGGTGGATGGGTGGACAAGTGGATGGGT GGGTGGATGGATGAGAGGGTGGGTAAATGGATGGATGGATGGATGGATGG ATGGATAGATGAGTGGGTGGATGGTTGGATGGATGGATGGATGGGTGGGT GGATGATTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAG GCAGGTGAGTGCATGGATGGGTGGATGGGCAGGTGAGTGAATGGATGGGT GGATGGGCAGGTGAGTGAATGGATGGGTGGATGGATGGATGGATGGGTGG GTGGGTGGATGAATGGGTGGATGGGTGGACAGGTGGATGGATGGGTGGAT GGATGGGAGGGTTGGTGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATGAACAG	MEX3D	ENSG00000181588.17	transcript	ENST00000402693.5	protein_coding		4656		chr19	TogoVar
MEX3D_chr19_1549672_1573325	1550015	C C	CCTGTTCA others(589): Show CCTGTTCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACC AACCCTCCCATCCATCCACCCATCCATCCACCTGTCCACCCATCCACCCA TTCATCCACCCACCCACCCATCCATCCATCCATCCACCCATCCATTCACT CACCTGCCCATCCACCCATCCATTCACTCACCTGCCCATCCACCCATCCA TGCACTCACCTGCCTATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCAATCATCCACCCACCCATCCATCCATCCATCCAACCATCCA CCCACTCATCTATCCATCCATCCATCCATCCATCCATCCATTTACCCACC CTCTCATCCATCCACCCACCCATCCACTTGTCCACCCATCCACCTGTTCA CCCATCCACCCATCCATCCATCCATCCAACCATCCACCCATCTATCCATC CATCCATCCAACCACTCATCCGTCCATCCATCCATCCATCCATCCATTTA CCCACTCTCCCATCCACCCACCCATCGACTTGTCCACCCATACACCTGTT CACCCATCCACCCATCCATCCATCCATCCATCCAACCATCCACCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0177 a0001c0001t0003g0177	1	312	0.0032	596	c.55 others(607): Show c.5547_*5548insATGGGTGGATGGTTGGATGGATGGATGGATGGAT GGGTGGATGGGTGAACAGGTGTATGGGTGGACAAGTCGATGGGTGGGTGG ATGGGAGAGTGGGTAAATGGATGGATGGATGGATGGATGGACGGATGAGT GGTTGGATGGATGGATGGATAGATGGGTGGATGGTTGGATGGATGGATGG ATGGGTGGATGGGTGAACAGGTGGATGGGTGGACAAGTGGATGGGTGGGT GGATGGATGAGAGGGTGGGTAAATGGATGGATGGATGGATGGATGGATGG ATAGATGAGTGGGTGGATGGTTGGATGGATGGATGGATGGGTGGGTGGAT GATTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAG GCAGGTGAGTGCATGGATGGGTGGATGGGCAGGTGAGTGAATGGATGGGT GGATGGGCAGGTGAGTGAATGGATGGGTGGATGGATGGATGGATGGGTGG GTGGGTGGATGAATGGGTGGATGGGTGGACAGGTGGATGGATGGGTGGAT GGATGGGAGGGTTGGTGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATGAACAG	MEX3D	ENSG00000181588.17	transcript	ENST00000402693.5	protein_coding		4656		chr19	TogoVar
MRPL28_chr16_361969_375538	370390	G G	GCTACCCC others(589): Show GCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCAC CCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTC ACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCCCTATCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGC TCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCG GCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCC GGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCC CCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGC CCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGG CCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCG GCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCC CGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGGCTCTCACTCC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02647.hp2 NA18950.hp2 others(3): Show HG00544.hp2 HG02647.hp2 NA18950.hp2 NA18960.hp1 NA18970.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	6	11	0.5455	596	c.-8+ others(609): Show c.-8+108_-8+109insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGG GGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAG CGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGG GTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCG GGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGC CGGGATAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGG GCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGG GGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCC GGGGGCCGGGGTAG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MUC4_chr3_195741771_195816929	195760489	G G	GTGGAGGG others(589): Show GTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGGCTG GGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGGGTCCAG CGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAT GGAGGGGGCTTGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGCTGGG AAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGCTGGGAAGGGGTCCAGCA CTAGGATGGAGTGGAGGGGCTGGGAAGGGGTCCAGCACTAGGATGGAGTG GAGGGGGCTGGGAAGGCGTCCAGCACTAGGATGGAGTGGAGGGGCTGGGA AGGCGTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCA CTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGG AGGGGGCTGGGAAGGGGTCCAGCACTAGGATGGAGTGGAGGGGGCTGGGA AGGCTTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCG CTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG03130.hp1 HG00438.hp1 HG03130.hp1	a0001 a0085 a0001 a0085	a0001c0075 a0085c0095 a0001c0075 a0085c0095	a0001c0075t0001 a0085c0095t0001 a0001c0075t0001 a0085c0095t0001	a0001c0075t0001g0109 a0085c0095t0001g0139 a0001c0075t0001g0109 a0085c0095t0001g0139	2	244	0.0082	596	c.148 others(615): Show c.14848+394_14848+395insTCCATCCTAGCGCTGGACGCCTTCCC AGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCACT CCATCCTAGCGCTGGAAGCCTTCCCAGCCCCCTCCACTCCATCCTAGTGC TGGACCCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCCC AGCCCCCTCCATCCATCCTAGTGCTGGACGCCTTCCCAGCCCCCTCCACT CCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCACTCCATCCTAGTGCT GGACGCCTTCCCAGCCCCCTCCACTCCATCCTAGTGCTGGACCCCTTCCC AGCCCCTCCACTCCATCCTAGTGCTGGACCCCTTCCCAGCCCCTCCACTC CATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCACTCCATCCTAGCGCTG GACGCCTTCCAAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCCCAG CCCCCTCCATCCATCCTAGCGCTGGACCCCTTCCCAGCCCCCTCCATCCA TCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAGCGCTGG ACGCCTTCCCAGCCCCTCCA	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	16/24			chr3	TogoVar
MUSK_chr9_110663791_110811558	110690701	T T	TATATATA others(589): Show TATATATATTTATATATAAGTATATATATAAATATATATATTTATATATA AGTATATATATAAATATATATATTTATATATAAGTATATATATATATTTA TATATAAGTATATATAAATATATATATTTATATATAAGTATATATATATA TTTATATATAAGTATATATATATTTATATATAAGTATATATATATATTTA TATATAAGTATATATATAAATATATATATTTATATATAAGTATATATATA AATATATATATTTATATATAAGTATATATATATTTATATATAAGTATATA TAAATATATATATTTATATATAAGTGTATATATATAAATATATATATTTA TATAGAAGTATATATAAATATATATATTTATATATAAGTATATATAAATA TATATATTTATATATAAGTATATATAAATATATATATTTAAATATAAGTA TATATAAATATATATATTTAAATATAAGTATATATATAAATATATATTTA AATATAAGTATATATATAAATATATATTTAAATATAAGTATATATATAAA TATAAGTATATATATAAATATATATTTAAATATAAGTATATATATAA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0005 a0002c0012t0005	a0002c0012t0005g0074 a0002c0012t0005g0074	1	238	0.0042	596	c.358 others(613): Show c.358+3444_358+3445insTATATAAGTATATATATAAATATATATA TTTATATATAAGTATATATATAAATATATATATTTATATATAAGTATATA TATATATTTATATATAAGTATATATAAATATATATATTTATATATAAGTA TATATATATATTTATATATAAGTATATATATATTTATATATAAGTATATA TATATATTTATATATAAGTATATATATAAATATATATATTTATATATAAG TATATATATAAATATATATATTTATATATAAGTATATATATATTTATATA TAAGTATATATAAATATATATATTTATATATAAGTGTATATATATAAATA TATATATTTATATAGAAGTATATATAAATATATATATTTATATATAAGTA TATATAAATATATATATTTATATATAAGTATATATAAATATATATATTTA AATATAAGTATATATAAATATATATATTTAAATATAAGTATATATATAAA TATATATTTAAATATAAGTATATATATAAATATATATTTAAATATAAGTA TATATATAAATATAAGTATATATATAAATATATATTTAAATATAAGTATA TATATAAATATATATTTA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MYRIP_chr3_39804609_40265321	40084296	T T	TATAATAC others(589): Show TATAATACACATCTATGTATTATATATCGATATATAATACACATCTATGT ATTATATATCGATAGATAATACACATCTATGTATTATATATCGATAGATA ATACACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTA TATATCGATAGATAATACACATCTATGTATTATATATCGATAGATAATAC ACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTATATA TCGATAGATAATACACATCTATGTATTATATATCGATAGATAATACACAT CTATGTATTATATATCGATAGATAATACACATCTATGTATTATATATCGA TAGATAATACACATCTATGTATTATCTATCGATAGATAATACACATCTAT GTATTATCTATCGATAGATAATACACATCTATGTATTATCTATCGATAGA TAATACACATCTATGTATTATCTATCGATAGATAATACACATCTATGTAT TATCTATCGATAGATAATACACATCTATGTATTATATATCGATAATACAC ATCTATGTATTATATATCGATAATACACATCTATGTATTATATATCG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01256.hp2 HG02109.hp1 others(3): Show HG01168.hp2 HG01256.hp2 HG02109.hp1 HG02615.hp1 NA18612.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 a0001c0002t0002	a0001c0001t0001g0101 a0001c0001t0001g0121 a0001c0001t0001g0125 others(3): Show a0001c0001t0001g0101 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0003g0119 a0001c0001t0015g0029 a0001c0002t0002g0099	6	110	0.0545	596	c.332 others(615): Show c.332+40056_332+40057insTATAATACACATCTATGTATTATATA TCGATAGATAATACACATCTATGTATTATATATCGATAGATAATACACAT CTATGTATTATATATCGATAGATAATACACATCTATGTATTATATATCGA TAGATAATACACATCTATGTATTATATATCGATAGATAATACACATCTAT GTATTATATATCGATAGATAATACACATCTATGTATTATATATCGATAGA TAATACACATCTATGTATTATATATCGATAGATAATACACATCTATGTAT TATATATCGATAGATAATACACATCTATGTATTATATATCGATAGATAAT ACACATCTATGTATTATCTATCGATAGATAATACACATCTATGTATTATC TATCGATAGATAATACACATCTATGTATTATCTATCGATAGATAATACAC ATCTATGTATTATCTATCGATAGATAATACACATCTATGTATTATCTATC GATAGATAATACACATCTATGTATTATATATCGATAATACACATCTATGT ATTATATATCGATAATACACATCTATGTATTATATATCGATAATACACAT CTATGTATTATATATCGATA	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYRIP_chr3_39804609_40265321	40084296	T T	TATAATAC others(589): Show TATAATACACATCTATGTATTATATATCGATATATAATACACATCTATGT ATTATATATCGATAGATAATACACATCTATGTATTATATATCGATAGATA ATACACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTA TATATCGATAGATAATACACATCTATGTATTATATATCGATAGATAATAC ACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTATATA TCGATAGATAATACACATCTATGTATTATATATCGATAGATAATACACAT CTATGTATTATATATCGATAGATAATACACATCTATGTATTATATATCGA TAGATAATACACATCTATGTATTATCTATCGATAGATAATACACATCTAT GTATTATCTATCGATAGATAATACACATCTATGTATTATCTATCGATAGA TAATACACATCTATGTATTATCTATCGATAGATAATACACATCTATGTAT TATCTATCGATAGATAATACACATCTATGTATTATATATCGATAATACGC ATCTATGTATTATATATCGATAATACACATCTATGTATTATATATCG	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	105	0.0095	596	c.332 others(615): Show c.332+40056_332+40057insTATAATACACATCTATGTATTATATA TCGATAGATAATACACATCTATGTATTATATATCGATAGATAATACACAT CTATGTATTATATATCGATAGATAATACACATCTATGTATTATATATCGA TAGATAATACACATCTATGTATTATATATCGATAGATAATACACATCTAT GTATTATATATCGATAGATAATACACATCTATGTATTATATATCGATAGA TAATACACATCTATGTATTATATATCGATAGATAATACACATCTATGTAT TATATATCGATAGATAATACACATCTATGTATTATATATCGATAGATAAT ACACATCTATGTATTATCTATCGATAGATAATACACATCTATGTATTATC TATCGATAGATAATACACATCTATGTATTATCTATCGATAGATAATACAC ATCTATGTATTATCTATCGATAGATAATACACATCTATGTATTATCTATC GATAGATAATACACATCTATGTATTATATATCGATAATACGCATCTATGT ATTATATATCGATAATACACATCTATGTATTATATATCGATAATACACAT CTATGTATTATATATCGATA	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYRIP_chr3_39804609_40265321	40084296	T T	TATAATAC others(589): Show TATAATACACATCTATGTATTATATATCGATATATAATACACATCTATGT ATTATATATCGATAGATAATACACATCTATGTATTATATATCGATAGATA ATACACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTA TATATCGATAGATAATACACATCTATGTATTATATATCGATAGATAATAC ACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTATATA TCGATAGATAATACACATCTATGTATTATATATCGATAGATAATACACAT CTATGTATTATATATCGATAGATAATACACATCTATGTATTATCTATCGA TAGATAATACACATCTATGTATTATCTATCGATAGATAATACACATCTAT GTATTATCTATCGATAGATAATACACATCTATGTATTATCTATCGATAGA TAATACACATCTATGTATTATCTATCGATAGATAATACACATCTATGTAT TATCTATCGATAGATAATACACATCTATGTATTATATATCGATAATACAC ATCTATGTATTATATATCGATAATACACATCTATGTATTATATATCG	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0136 a0001c0001t0005g0136	1	105	0.0095	596	c.332 others(615): Show c.332+40056_332+40057insTATAATACACATCTATGTATTATATA TCGATAGATAATACACATCTATGTATTATATATCGATAGATAATACACAT CTATGTATTATATATCGATAGATAATACACATCTATGTATTATATATCGA TAGATAATACACATCTATGTATTATATATCGATAGATAATACACATCTAT GTATTATATATCGATAGATAATACACATCTATGTATTATATATCGATAGA TAATACACATCTATGTATTATATATCGATAGATAATACACATCTATGTAT TATATATCGATAGATAATACACATCTATGTATTATCTATCGATAGATAAT ACACATCTATGTATTATCTATCGATAGATAATACACATCTATGTATTATC TATCGATAGATAATACACATCTATGTATTATCTATCGATAGATAATACAC ATCTATGTATTATCTATCGATAGATAATACACATCTATGTATTATCTATC GATAGATAATACACATCTATGTATTATATATCGATAATACACATCTATGT ATTATATATCGATAATACACATCTATGTATTATATATCGATAATACACAT CTATGTATTATATATCGATA	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYRIP_chr3_39804609_40265321	40084296	T T	TATAATAC others(589): Show TATAATACACATCTATGTATTATATATCGATATATAATACACATCTATGT ATTATATATCGATATATAATACACATCTATGTATTATATATCGATAGATA ATACACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTA TCTATCGATAGATAATACACATCTATGTATTATATATCGATAGATAATAC ACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTATATA TCGATAGATAATACACATCTATGTATTATATATCGATAGATAATACACAT CTATGTATTATATATCGATAGATAATACACATCTATGTATTATATATCGA TAGATAATACACATCTATGTATTATCTATCGATAGATAATACACATCTAT GTATTATCTATCGATAGATAATACACATCTATGTATTATCTATCGATAGA TAATACACATCTATGTATTATCTATCGATAGATAATACACATCTATGTAT TATCTATCGATAGATAATACACATCTATGTATTATATATCGATAATACAC ATCTATGTATTATATATCGATAATACACATCTATGTATTATATATCG	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	105	0.0095	596	c.332 others(615): Show c.332+40056_332+40057insTATAATACACATCTATGTATTATATA TCGATATATAATACACATCTATGTATTATATATCGATAGATAATACACAT CTATGTATTATATATCGATAGATAATACACATCTATGTATTATCTATCGA TAGATAATACACATCTATGTATTATATATCGATAGATAATACACATCTAT GTATTATATATCGATAGATAATACACATCTATGTATTATATATCGATAGA TAATACACATCTATGTATTATATATCGATAGATAATACACATCTATGTAT TATATATCGATAGATAATACACATCTATGTATTATATATCGATAGATAAT ACACATCTATGTATTATCTATCGATAGATAATACACATCTATGTATTATC TATCGATAGATAATACACATCTATGTATTATCTATCGATAGATAATACAC ATCTATGTATTATCTATCGATAGATAATACACATCTATGTATTATCTATC GATAGATAATACACATCTATGTATTATATATCGATAATACACATCTATGT ATTATATATCGATAATACACATCTATGTATTATATATCGATAATACACAT CTATGTATTATATATCGATA	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYRIP_chr3_39804609_40265321	40084638	T T	TATATCGA others(589): Show TATATCGATAGATAATACACATCTATGTATTATCTATCGATAGATAATAC ACATCTATGTATTATCTATCGATAGATAATACACATCTATGTATTATCTA TCGATAGATAATACACATCTATGTATTATCTATCGATAGATAATACACAT CTATGTATTATCTATCGATAGATAATACACATCTATGTATTATATATCGA TAATACACATCTATGTATTATATATCGATAATACACATCTATGTATTATA TATCGATAATACACATCTATGTATTATATATCGATAGATAATACACATCT ATGTATTATATATCGATAGATAATACACATCTATGTATTATATATCGATA GATAATACACATCTATGTATTATATATCGATAGATAATACACATCTATGT ATTATATATCGATAGATAATACACATCTATGTATTATATATCGATAGATA ATACACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTA TATATCGATAGATAATACACATCTATGTATTATATATCGATAGATAATAC ACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 NA19030.hp2 HG00735.hp1 NA19030.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0016 a0001c0001 a0006c0016	a0001c0001t0001 a0006c0016t0008 a0001c0001t0001 a0006c0016t0008	a0001c0001t0001g0117 a0006c0016t0008g0138 a0001c0001t0001g0117 a0006c0016t0008g0138	2	135	0.0148	596	c.332 others(615): Show c.332+40376_332+40377insGATAATACACATCTATGTATTATCTA TCGATAGATAATACACATCTATGTATTATCTATCGATAGATAATACACAT CTATGTATTATCTATCGATAGATAATACACATCTATGTATTATCTATCGA TAGATAATACACATCTATGTATTATCTATCGATAGATAATACACATCTAT GTATTATATATCGATAATACACATCTATGTATTATATATCGATAATACAC ATCTATGTATTATATATCGATAATACACATCTATGTATTATATATCGATA GATAATACACATCTATGTATTATATATCGATAGATAATACACATCTATGT ATTATATATCGATAGATAATACACATCTATGTATTATATATCGATAGATA ATACACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTA TATATCGATAGATAATACACATCTATGTATTATATATCGATAGATAATAC ACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTATATA TCGATAGATAATACACATCTATGTATTATATATCGATAGATAATACACAT CTATGTATTACATATCGATA	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr3	TogoVar

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