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
DPYSL2_chr8_26509031_26663175	26556265	A A	ATATATAC others(401): Show ATATATACTATATATATATAGTATATATATAGTATATATATAGTATATAT ATAGTATATATATAGTATATATATAGTATATATATACTATATATATAGTA TATATATATAGTATATATATAGTATATATATAGTATATATATAGTATATA TATACTATATATATAGTATATATATAGTATATATATAGTATATATATAGT ATATATATAGTATATATATAGTATATATATAGTATATATATATAGTATAT ATATAGTATATATATAGTATATATATATAGTATATATATAGTATATATAT ATAGTGTATATATATAGTATATATATATAGTGTATATATATAGTATATAT ATAGTATATATATAGTATATATAGTATATATGTATATATATATAGTATAT ATATAGTAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0184 a0001c0002t0001g0184	1	169	0.0059	408	c.355 others(427): Show c.355-25704_355-25703insTATATACTATATATATATAGTATATA TATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAGT ATATATATACTATATATATAGTATATATATATAGTATATATATAGTATAT ATATAGTATATATATAGTATATATATACTATATATATAGTATATATATAG TATATATATAGTATATATATAGTATATATATAGTATATATATAGTATATA TATAGTATATATATATAGTATATATATAGTATATATATAGTATATATATA TAGTATATATATAGTATATATATATAGTGTATATATATAGTATATATATA TAGTGTATATATATAGTATATATATAGTATATATATAGTATATATAGTAT ATATGTATATATATATAGTATATATATAGTAT	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13			chr8	TogoVar
DTD1_chr20_18583054_18771644	18675822	A A	ATATGTGT others(401): Show ATATGTGTAAATATACCTATGTGTATATTTACACATATATATGTAAATAT ACCTATGTGTATGTTTACACATATATATGTAAATATACCTATGTGTATGT TTACACATATATATGTGTAAATATACCTATGTGTATGTTTACACATATAT ATGTGTAAATATACCTATGTGTATGTTTACACATATATGTAAATATACCT ATGTGTATGTTTACACATATATGTGTAAATATACCGATGTGTATGTTTAC ACATATATGTGTAAATATACCTATGTGTATGTTTACACATATATGTGTAA ATATACCTATGTGTATGTTTACACATATATATGTGTAAATATACCTATGT GTATGTTTACACATATATATGTGTAAATATACCTATGTGTGTGTTTACAC ATATATATG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0367 a0001c0001t0035g0367	1	272	0.0037	408	c.477 others(427): Show c.477+47590_477+47591insATGTGTAAATATACCTATGTGTATAT TTACACATATATATGTAAATATACCTATGTGTATGTTTACACATATATAT GTAAATATACCTATGTGTATGTTTACACATATATATGTGTAAATATACCT ATGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGTATGTTT ACACATATATGTAAATATACCTATGTGTATGTTTACACATATATGTGTAA ATATACCGATGTGTATGTTTACACATATATGTGTAAATATACCTATGTGT ATGTTTACACATATATGTGTAAATATACCTATGTGTATGTTTACACATAT ATATGTGTAAATATACCTATGTGTATGTTTACACATATATATGTGTAAAT ATACCTATGTGTGTGTTTACACATATATATGT	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
EML1_chr14_99788413_99947060	99927939	A A	ATGGTGGT others(401): Show ATGGTGGTGATGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGG TGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGAT GGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGG TGATGGTGG	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0201 a0003c0002t0001g0201	1	237	0.0042	408	c.190 others(427): Show c.1909+7070_1909+7071insATGGTGGTGGTGGTGGTGGAGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGT GGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
ESYT2_chr7_158725997_158834509	158745254	C C	CGGCTGTT others(401): Show CGGCTGTTCACACTCACCTATCTAATGAGACAGGGCCGGGCAAGCGGCAT GACCAGGTCTCCTAGGCCCGGCTGTTCACACTCACCTATCTAATGAGACA GGGCCGGGCAAGCGGCATGACCAGGTCTCCTAGGCCCGGCTGTTCACACT CACCTATCTAATGAGACAGGGCCGGGCAAGCGGCATGACCAGGTCTCCTA GGCCCGGCTGTTCACACTCACCTATCTAATGAGACAGGGTCGGGCAAGCG GCATGACCAGGTCTCCTAGGCCCGGCTGTTCACACTCACCTATCTAATGA GACAGGGTCGGGCAAGCGGCATGACCAGGTCTCCTAGGCCGGGCTGTTCA CACTCACCTATCTAATGAGACAGGGTCGGGCAAGCGGCATGACCAGGTCT CCTAGGCCG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00735.hp1 HG01069.hp2 others(25): Show HG00408.hp1 HG00735.hp1 HG01069.hp2 HG01243.hp2 HG01255.hp1 HG01516.hp2 HG01517.hp2 HG02015.hp1 HG02155.hp1 HG02300.hp1 HG02622.hp2 HG02895.hp1 HG02896.hp1 HG02965.hp1 HG02970.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03491.hp2 HG03654.hp1 HG04228.hp1 HG06807.hp1 NA18957.hp1 NA18964.hp2 NA18979.hp2 NA18998.hp1 NA19064.hp1 NA19087.hp1	a0003 a0008 a0003 a0008	a0003c0003 a0003c0016 a0008c0015 a0003c0003 a0003c0016 a0008c0015	a0003c0003t0004 a0003c0003t0005 a0003c0003t0007 others(5): Show a0003c0003t0004 a0003c0003t0005 a0003c0003t0007 a0003c0003t0022 a0003c0003t0024 a0003c0003t0027 a0003c0016t0004 a0008c0015t0004	a0003c0003t0004g0181 a0003c0003t0004g0184 a0003c0003t0004g0185 others(25): Show a0003c0003t0004g0181 a0003c0003t0004g0184 a0003c0003t0004g0185 a0003c0003t0004g0187 a0003c0003t0004g0188 a0003c0003t0004g0190 a0003c0003t0004g0191 a0003c0003t0004g0192 a0003c0003t0004g0194 a0003c0003t0004g0195 a0003c0003t0004g0196 a0003c0003t0004g0197 a0003c0003t0004g0199 a0003c0003t0004g0201 a0003c0003t0005g0076 a0003c0003t0005g0174 a0003c0003t0005g0213 a0003c0003t0005g0214 a0003c0003t0005g0215 a0003c0003t0007g0176 a0003c0003t0007g0179 a0003c0003t0007g0180 a0003c0003t0007g0189 a0003c0003t0022g0183 a0003c0003t0024g0182 a0003c0003t0027g0212 a0003c0016t0004g0298 a0008c0015t0004g0193	28	204	0.1373	408	c.164 others(427): Show c.1645-1577_1645-1576insCGGCCTAGGAGACCTGGTCATGCCGC TTGCCCGACCCTGTCTCATTAGATAGGTGAGTGTGAACAGCCCGGCCTAG GAGACCTGGTCATGCCGCTTGCCCGACCCTGTCTCATTAGATAGGTGAGT GTGAACAGCCGGGCCTAGGAGACCTGGTCATGCCGCTTGCCCGACCCTGT CTCATTAGATAGGTGAGTGTGAACAGCCGGGCCTAGGAGACCTGGTCATG CCGCTTGCCCGGCCCTGTCTCATTAGATAGGTGAGTGTGAACAGCCGGGC CTAGGAGACCTGGTCATGCCGCTTGCCCGGCCCTGTCTCATTAGATAGGT GAGTGTGAACAGCCGGGCCTAGGAGACCTGGTCATGCCGCTTGCCCGGCC CTGTCTCATTAGATAGGTGAGTGTGAACAGCC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	16/22			chr7	TogoVar
ESYT2_chr7_158725997_158834509	158745254	C C	CGGCTGTT others(401): Show CGGCTGTTCACACTCACCTATCTAATGAGACAGGGCCGGGCAAGCGGCAT GACCAGGTCTCCTAGGCCCGGCTGTTCACACTCACCTATCTAATGAGACA GGGCCGGGCAAGCGGCATGACCAGGTCTCCTAGGCCCGGCTGTTCACACT CACCTATCTAATGAGACAGGGTCGGGCAAGCGGCATGACCAGGTCTCCTA GGCCCGGCTGTTCACACTCACCTATCTAATGAGACAGGGTCGGGCAAGCG GCATGACCAGGTCTCCTAGGCCCGGCTGTTCACACTCACCTATCTAATGA GACAGGGTCGGGCAAGCGGCATGACCAGGTCTCCTAGGCCGGGCTGTTCA CACTCACCTATCTAATGAGACAGGGTCGGGCAAGCGGCATGACCAGGTCT CCTAGGCCG	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18989.hp1 NA19003.hp1 others(1): Show HG00597.hp2 NA18989.hp1 NA19003.hp1 NA19056.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0157 a0002c0004t0001g0163 a0002c0004t0001g0166 others(1): Show a0002c0004t0001g0157 a0002c0004t0001g0163 a0002c0004t0001g0166 a0002c0004t0001g0169	4	180	0.0222	408	c.164 others(427): Show c.1645-1577_1645-1576insCGGCCTAGGAGACCTGGTCATGCCGC TTGCCCGACCCTGTCTCATTAGATAGGTGAGTGTGAACAGCCCGGCCTAG GAGACCTGGTCATGCCGCTTGCCCGACCCTGTCTCATTAGATAGGTGAGT GTGAACAGCCGGGCCTAGGAGACCTGGTCATGCCGCTTGCCCGACCCTGT CTCATTAGATAGGTGAGTGTGAACAGCCGGGCCTAGGAGACCTGGTCATG CCGCTTGCCCGACCCTGTCTCATTAGATAGGTGAGTGTGAACAGCCGGGC CTAGGAGACCTGGTCATGCCGCTTGCCCGGCCCTGTCTCATTAGATAGGT GAGTGTGAACAGCCGGGCCTAGGAGACCTGGTCATGCCGCTTGCCCGGCC CTGTCTCATTAGATAGGTGAGTGTGAACAGCC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	16/22			chr7	TogoVar
ESYT2_chr7_158725997_158834509	158745254	C C	CGGCTGTT others(401): Show CGGCTGTTCACACTCACCTATCTAATGAGACAGGGCCGGGCAAGCGGCAT GACCAGGTCTCCTAGGCCCGGCTGTTCACACTCACCTATCTAATGAGACA GGGTCGGGCAAGCGGCATGACCAGGTCTCCTAGGCCCGGCTGTTCACACT CACCTATCTAATGAGACAGGGCCGGGCAAGCGGCATGACCAGGTCTCCTA GGCCCGGCTGTTCACACTCACCTATCTAATGAGACAGGGTCGGGCAAGCG GCATGACCAGGTCTCCTAGGCCCGGCTGTTCACACTCACCTATCTAATGA GACAGGGTCGGGCAAGCGGCATGACCAGGTCTCCTAGGCCGGGCTGTTCA CACTCACCTATCTAATGAGACAGGGTCGGGCAAGCGGCATGACCAGGTCT CCTAGGCCG	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0037 a0003c0003t0005g0037	1	177	0.0056	408	c.164 others(427): Show c.1645-1577_1645-1576insCGGCCTAGGAGACCTGGTCATGCCGC TTGCCCGACCCTGTCTCATTAGATAGGTGAGTGTGAACAGCCCGGCCTAG GAGACCTGGTCATGCCGCTTGCCCGACCCTGTCTCATTAGATAGGTGAGT GTGAACAGCCGGGCCTAGGAGACCTGGTCATGCCGCTTGCCCGACCCTGT CTCATTAGATAGGTGAGTGTGAACAGCCGGGCCTAGGAGACCTGGTCATG CCGCTTGCCCGGCCCTGTCTCATTAGATAGGTGAGTGTGAACAGCCGGGC CTAGGAGACCTGGTCATGCCGCTTGCCCGACCCTGTCTCATTAGATAGGT GAGTGTGAACAGCCGGGCCTAGGAGACCTGGTCATGCCGCTTGCCCGGCC CTGTCTCATTAGATAGGTGAGTGTGAACAGCC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	16/22			chr7	TogoVar
ESYT2_chr7_158725997_158834509	158745254	C C	CGGCTGTT others(401): Show CGGCTGTTCACACTCACCTATCTAATGAGACAGGGTCGGGCAAGCGGCAT GACCAGGTCTCCTAGGCCCGGCTGTTCACACTCACTTATCTAATGAGACA GGGCCGGGCAAGCGGCATGACCAGGTCTCCTAGGCCCGGCTGTTCACACT CACCTATCTAATGAGACAGGGTCGGGCAAGCGGCATGACCAGGTCTCCTA GGCCCGGCTGTTCACACTCACCTATCTAATGAGACAGGGTCGGGCAAGCG GCATGACCAGGTCTCCTAGGCCCGGCTGTTCACACTCACCTATCTAATGA GACAGGGTCGGGCAAGCGGCATGACCAGGTCTCCTAGGCCCGGCTGTTCA CACTCACCTATCTAATGAGACAGGGTCGGGCAAGCGGCATGACCAGGTCT CCTAGGCCG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0023 a0002c0002t0002g0023	1	177	0.0056	408	c.164 others(427): Show c.1645-1577_1645-1576insCGGCCTAGGAGACCTGGTCATGCCGC TTGCCCGACCCTGTCTCATTAGATAGGTGAGTGTGAACAGCCGGGCCTAG GAGACCTGGTCATGCCGCTTGCCCGACCCTGTCTCATTAGATAGGTGAGT GTGAACAGCCGGGCCTAGGAGACCTGGTCATGCCGCTTGCCCGACCCTGT CTCATTAGATAGGTGAGTGTGAACAGCCGGGCCTAGGAGACCTGGTCATG CCGCTTGCCCGACCCTGTCTCATTAGATAGGTGAGTGTGAACAGCCGGGC CTAGGAGACCTGGTCATGCCGCTTGCCCGGCCCTGTCTCATTAGATAAGT GAGTGTGAACAGCCGGGCCTAGGAGACCTGGTCATGCCGCTTGCCCGACC CTGTCTCATTAGATAGGTGAGTGTGAACAGCC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	16/22			chr7	TogoVar
ESYT2_chr7_158725997_158834509	158745299	G G	GGCATGAC others(401): Show GGCATGACCAGGTCTCCTAGGCCCGGCTGTTCACACTCACCTATCTAATG AGACAGGGCCGGGCAAGCGGCATGACCAGGTCTCCTAGGCCCGGCTGTTC ACACTCACCTATCTAATGAGACAGGGTCGGGCAAGCGGCATGACCAGGTC TCCTAGGCCCGGCTGTTCACACTCACCTATCTAATGAGACAGGGTCGGGC AAGCGGCATGACCAGGTCTCCTAGGCCGGGCTGTTCACACTCACCTATCT AATGAGACAGGGTCGGGCAAGCGGCATGACCAGGTCTCCTAGGCCTGGCT GTTCACACTCACCTATCTAATGAGACAGGGTCGGGCAAGCGGCATGACCA GGTCTCCTAGGCCGGGCTGTTCACACTCACCTATCTAATGAGACAGGGTC GGGCAAGCA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03209.hp2 HG02055.hp2 HG03209.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0021 a0002c0002t0002g0022	2	323	0.0062	408	c.164 others(427): Show c.1645-1622_1645-1621insTGCTTGCCCGACCCTGTCTCATTAGA TAGGTGAGTGTGAACAGCCCGGCCTAGGAGACCTGGTCATGCCGCTTGCC CGACCCTGTCTCATTAGATAGGTGAGTGTGAACAGCCAGGCCTAGGAGAC CTGGTCATGCCGCTTGCCCGACCCTGTCTCATTAGATAGGTGAGTGTGAA CAGCCCGGCCTAGGAGACCTGGTCATGCCGCTTGCCCGACCCTGTCTCAT TAGATAGGTGAGTGTGAACAGCCGGGCCTAGGAGACCTGGTCATGCCGCT TGCCCGACCCTGTCTCATTAGATAGGTGAGTGTGAACAGCCGGGCCTAGG AGACCTGGTCATGCCGCTTGCCCGGCCCTGTCTCATTAGATAGGTGAGTG TGAACAGCCGGGCCTAGGAGACCTGGTCATGC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	16/22			chr7	TogoVar
ESYT2_chr7_158725997_158834509	158745299	G G	GGCATGAC others(401): Show GGCATGACCAGGTCTCCTAGGCCCGGCTGTTCACACTCACTTATCTAATG AGACAGGGCCGGGCAAGCGGCATGACCAGGTCTCCTAGGCCCGGCTGTTC ACACTCACCTATCTAATGAGACAGGGTCGGGCAAGCGGCATGACCAGGTC TCCTAGGCCCGGCTGTTCACACTCACCTATCTAATGAGACAGGGTCGGGC AAGCGGCATGACCAGGTCTCCTAGGCCCGGCTGTTCACACTCACCTATCT AATGAGACAGGGTCGGGCAAGCGGCATGACCAGGTCTCCTAGGCCCGGCT GTTCACACTCACCTATCTAATGAGACAGGGTCGGGCAAGCGGCATGACCA GGTCTCCTAGGCCGGGCTGTTCACACTCACCTATCTAATGAGACAGGGTC GGGCAAGCA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0027 a0002c0027	a0002c0027t0045 a0002c0027t0045	a0002c0027t0045g0219 a0002c0027t0045g0219	1	322	0.0031	408	c.164 others(427): Show c.1645-1622_1645-1621insTGCTTGCCCGACCCTGTCTCATTAGA TAGGTGAGTGTGAACAGCCCGGCCTAGGAGACCTGGTCATGCCGCTTGCC CGACCCTGTCTCATTAGATAGGTGAGTGTGAACAGCCGGGCCTAGGAGAC CTGGTCATGCCGCTTGCCCGACCCTGTCTCATTAGATAGGTGAGTGTGAA CAGCCGGGCCTAGGAGACCTGGTCATGCCGCTTGCCCGACCCTGTCTCAT TAGATAGGTGAGTGTGAACAGCCGGGCCTAGGAGACCTGGTCATGCCGCT TGCCCGACCCTGTCTCATTAGATAGGTGAGTGTGAACAGCCGGGCCTAGG AGACCTGGTCATGCCGCTTGCCCGGCCCTGTCTCATTAGATAAGTGAGTG TGAACAGCCGGGCCTAGGAGACCTGGTCATGC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	16/22			chr7	TogoVar
FLT4_chr5_180596506_180654600	180634823	T T	TGGGAGGA others(401): Show TGGGAGGATGGATGCATGGATGGATGGAAGTATGGGTGGATGGGTGGGTG GGTGGGTGGATGGATGCATGGAGGGAAGTATGGGTGGATGGGTGGGTGGG TGGGTGGATGGATGCATGGAGGGAAGTATGGGTGGATGGGTGGGTGGGTG GGTGGATGGATGCATGGAGGGAAGTATGGGTGGATGGGTGGGTGGGTGGA TGGATGCATGGATGGACGGAAGTATGGGTGGATGGGTGGATGGGTGGGTG GGTGGGTGGATGGATGGATGGAAGTATGGGTGGATGGGTGGGTGGGTGGG TGGATGGATGCATGGATGGAAGTATGGGTGGGTGGGTGGGTGGATGGATG GATGGAAGTATGGGTGGATGGGTGGGTGGATGGATGGATGGATGGAAGTA TGGGTGGAG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0005 a0005	a0005c0018 a0005c0018	a0005c0018t0013 a0005c0018t0013	a0005c0018t0013g0168 a0005c0018t0013g0168	1	367	0.0027	408	c.59- others(423): Show c.59-3046_59-3045insCTCCACCCATACTTCCATCCATCCATCCAT CCACCCACCCATCCACCCATACTTCCATCCATCCATCCACCCACCCACCC ACCCATACTTCCATCCATGCATCCATCCACCCACCCACCCACCCATCCAC CCATACTTCCATCCATCCATCCACCCACCCACCCACCCATCCACCCATCC ACCCATACTTCCGTCCATCCATGCATCCATCCACCCACCCACCCATCCAC CCATACTTCCCTCCATGCATCCATCCACCCACCCACCCACCCATCCACCC ATACTTCCCTCCATGCATCCATCCACCCACCCACCCACCCATCCACCCAT ACTTCCCTCCATGCATCCATCCACCCACCCACCCACCCATCCACCCATAC TTCCATCCATCCATGCATCCATCCTCCC	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar
FOXN3_chr14_89151177_89422233	89362047	T T	TCCAGCAC others(401): Show TCCAGCACCACCACCTCCAGCACCACCTCCACCACCACCTCCACCACCTC CACCACCACCACCTCCACCACCTCCACCACCACCTCCACCACCACCACCT CCAGCACCACCACCTCCAGCACCACCTCCACCACCACCTCCACCACTACC ACCACCACCACCACCTCCACCACCACCTCCACCACCACCTCCACCACCAC CACCTCCACCACCACCACCTCCACCACCACCTCCACCACCACCTCCACCA CCACCACCTCCAGCACCACCTCCACCACCACCACCTCCAGCACCACCACC TCCAGCACCACCTCCACCACCACCACCTCCAGCACCACCTCCACCACCAC CTCCACCACCACCTCCACCACCACCACCTCCACCACCACCTCCACCACCA CCACCTCCA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0193 a0001c0001t0006g0193	1	174	0.0057	408	c.544 others(427): Show c.544-11240_544-11239insTGGAGGTGGTGGTGGTGGAGGTGGTG GTGGAGGTGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTGGTGGAGGTGGT GCTGGAGGTGGTGGTGGTGGAGGTGGTGCTGGAGGTGGTGGTGCTGGAGG TGGTGGTGGTGGAGGTGGTGCTGGAGGTGGTGGTGGTGGAGGTGGTGGTG GAGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTGGT GGTGGAGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTAGTGGTGGAGGTGG TGGTGGAGGTGGTGCTGGAGGTGGTGGTGCTGGAGGTGGTGGTGGTGGAG GTGGTGGTGGAGGTGGTGGAGGTGGTGGTGGTGGAGGTGGTGGAGGTGGT GGTGGAGGTGGTGCTGGAGGTGGTGGTGCTGG	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXP1_chr3_70949708_71588728	71435248	A A	AAGGAAGG others(401): Show AAGGAAGGAAGAGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGA GGGAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGAAGGGACG GAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGA GGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACG GAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGACGGAGGGAGGGAGGGA GGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGG GAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGA GGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGG GAGGGAGGG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0029 a0001c0001t0009g0029	1	78	0.0128	408	c.-16 others(429): Show c.-168+58177_-168+58178insCCCTCCCTCCCTCCGTCCCTCCCT CCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCC GTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCT CCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCC GTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCT CCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCC CTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCT CCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCC CTTCCTCCCTCCCTCCGTCCCTCTCTTCCTTCCT	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
GAL3ST2_chr2_241771822_241809287	241807223	C C	CCCTCCCC others(401): Show CCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCTCAGCCCAGG GACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCC TCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAACCCAGGGACCTC TGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCC TCCCTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	309	0.0032	408	c.30 others(419): Show c.3057_*3058insCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCA CCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCT CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCC CAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAACCCAGGGAC CTCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCT CAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGAC CTCCGCAGGCCACCCTCCCTCCCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2937		chr2	TogoVar
GALR1_chr18_77244848_77282900	77252965	C C	CCATCACC others(401): Show CCATCACCATCACCATCACCATCACCACCACCACCACCACCATCACCACC ATCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCAC CATCACCACCACCACCACCACCATCACCACCACCACCACCATCACCACCA TCACCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACC ACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCAC CACCACCATCACCACCACCACCACCACCATCACCACCACCACCACCATCA CCACCATCACCACCACCACCACCATCACCACCACCACCACCACCACCATC ACCACCACCACCACCACCACCACCATCACCATCACCACCACCACCACCAC CATCACCAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0048 a0001c0004t0048	a0001c0004t0048g0310 a0001c0004t0048g0310	1	353	0.0028	408	c.666 others(425): Show c.666+1753_666+1754insTCACCATCACCATCACCATCACCACCAC CACCACCACCATCACCACCATCACCACCACCACCACCACCATCACCACCA CCACCACCACCACCACCACCATCACCACCACCACCACCACCATCACCACC ACCACCACCATCACCACCATCACCACCACCACCACCATCACCACCACCAC CACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCATCA CCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCATC ACCACCACCACCACCATCACCACCATCACCACCACCACCACCATCACCAC CACCACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCA TCACCACCACCACCACCACCATCACCATCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GALR1_chr18_77244848_77282900	77252995	C C	CCACCACC others(401): Show CCACCACCATCACCACCACCACCACCACCACCACCATCACCACCACCACC ACCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCAC CACCACCACCATCACCATCACCACCACCACCACCACCACCACCATCACCA CCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACC ACCACCATCACCACCACCACCACCACCATCACCACCACCACCATCACCAC CACCACCACCACCACCACCACCACCACCACCACCACCACCACCATCACCA CCACCACCACCACCACCACCATCACCACCACCACCACCACCACCATCACC ACCACCATCACCACCACCACCACCATCACCACCATCACCACCACCACCAT CACCACCAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0301 a0001c0001t0005g0301	1	279	0.0036	408	c.666 others(425): Show c.666+1789_666+1790insTCACCACCACCACCACCACCACCACCAT CACCACCACCACCACCACCACCACCACCACCACCACCACCACCACCATCA CCACCACCACCACCACCACCACCATCACCATCACCACCACCACCACCACC ACCACCATCACCACCACCACCACCACCACCACCACCACCACCATCACCAC CACCACCACCACCACCACCATCACCACCACCACCACCACCATCACCACCA CCACCATCACCACCACCACCACCACCACCACCACCACCACCACCACCACC ACCACCATCACCACCACCACCACCACCACCACCATCACCACCACCACCAC CACCACCATCACCACCACCATCACCACCACCACCACCATCACCACCATCA CCACCACCACCATCACCACCATCACCACCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GALR1_chr18_77244848_77282900	77253028	C C	CCACCACC others(401): Show CCACCACCACCACCACCACCACCATCACCATCACCACCACCACCACCACC ATCACCATCACCACCACCACCACCACCACCATCACCACCACCACCACCAC CATCACCACCACCACCATCACCACCATCACCACCACCACCACCACCATCA CCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACC ACCACCACCACCATCACCACCACCACCACCACCATCACCACCATCACCAC CACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCACCA CCACCACCACCACCATCACCATCACCACCACCACCACCACCATCACCATC ACCACCACCACCACCACCACCATCACCACCACCACCACCACCATCACCAC CACCACCAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0052 a0001c0004t0052	a0001c0004t0052g0308 a0001c0004t0052g0308	1	359	0.0028	408	c.666 others(425): Show c.666+1819_666+1820insCCACCACCACCACCACCATCACCATCAC CACCACCACCACCACCATCACCATCACCACCACCACCACCACCACCATCA CCACCACCACCACCACCATCACCACCACCACCATCACCACCATCACCACC ACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCAT CACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCA TCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCACC ACCATCACCACCACCACCACCACCACCACCATCACCATCACCACCACCAC CACCACCATCACCATCACCACCACCACCACCACCACCATCACCACCACCA CCACCACCATCACCACCACCACCATCACCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GATD1_chr11_762222_782487	763236	C C	CCCCCGCC others(401): Show CCCCCGCCCTCACCCGCCCCCGCCCTCACCCATCCCCGCCCTCACCCATC CCCGCCCTCACCGTCCCCGCCCTCACCCGCCCCCGCCCTCACCCGCCCCC GCCCTCACCCGCCCCCGCCCTCACCCATCCCCGCCCTCACCCATCCCCGC CCTCACCGTCCCCGCCCTCACCCGCCCCCGCCCTCACCCGCCCCCGCCCT CACCCATCCCCGCCCTCACCCATCCCCGCCCTCACCGTCCCCGCCCTCAC CGTCCCCGCCCTCACCCGCCCCCGCCCTCACCCGTCCCCGCCCTCACCCA TCCCCGCCCTCACCGTCCCCGCCCTCACCGTCCCCGCCCTCACCCGCCCC CGCCCTCACCCATCCCCGCCCTCACCCATCCCCGCCCTCACCGTCCCCGC CCTCACCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0006 a0001c0002t0003g0006	1	344	0.0029	408	c.76 others(419): Show c.7660_*7661insACGGTGAGGGCGGGGACGGTGAGGGCGGGGATGG GTGAGGGCGGGGATGGGTGAGGGCGGGGGCGGGTGAGGGCGGGGACGGTG AGGGCGGGGACGGTGAGGGCGGGGATGGGTGAGGGCGGGGACGGGTGAGG GCGGGGGCGGGTGAGGGCGGGGACGGTGAGGGCGGGGACGGTGAGGGCGG GGATGGGTGAGGGCGGGGATGGGTGAGGGCGGGGGCGGGTGAGGGCGGGG GCGGGTGAGGGCGGGGACGGTGAGGGCGGGGATGGGTGAGGGCGGGGATG GGTGAGGGCGGGGGCGGGTGAGGGCGGGGGCGGGTGAGGGCGGGGGCGGG TGAGGGCGGGGACGGTGAGGGCGGGGATGGGTGAGGGCGGGGATGGGTGA GGGCGGGGGCGGGTGAGGGCGGGG	GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding		3985		chr11	TogoVar
GPIHBP1_chr8_143208218_143222170	143218146	C C	CCACACCA others(401): Show CCACACCACCCACCACCACCCACCACAAGCCCCAACACCACCCCCAACAC CACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCA CCCCAACACCACCCCAACACCACCCCCAACACCACCCCCACACCACCCCC AACACCACCCCCAACACCACCCCCAACACCCCCACACCACCCCCACACCA CCCCCACACCACCCCCAACACCACCCCCAACACCACCCCAACACCACCCC AACACCACCCCCACACCACCCCCACACCACCCCCAACACCACCCCCACAC CACCCCCACACCACCCCCACACCACCCCCACACCACCCCAACACCACCCC CACACCACCCCCAACACCACCCCCAACACCACCCCCACACCACCCCCACA CCACCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0001 a0004c0006t0001g0001	1	72	0.0139	408	c.26 others(419): Show c.2628_*2629insCACACCACCCACCACCACCCACCACAAGCCCCAA CACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAACA CCACCCCCAACACCACCCCAACACCACCCCAACACCACCCCCAACACCAC CCCCACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCCCCAC ACCACCCCCACACCACCCCCACACCACCCCCAACACCACCCCCAACACCA CCCCAACACCACCCCAACACCACCCCCACACCACCCCCACACCACCCCCA ACACCACCCCCACACCACCCCCACACCACCCCCACACCACCCCCACACCA CCCCAACACCACCCCCACACCACCCCCAACACCACCCCCAACACCACCCC CACACCACCCCCACACCACCCCCA	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		977		chr8	TogoVar
GSE1_chr16_85608322_85681200	85653201	C C	CCCTCCCC others(401): Show CCCTCCCCCTCCTCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCCACTC CTCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCCCCCCCTCCTCCCCCCT CCTCCCCCCTCCTCCCCCCCCCTCCCCCCCCCTCCTCCCCCCTCCTCCTC CCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCCTCCTCCCCCCCCTCCTC CCCCCCCTCCTCCCCCCCCTCCTCCCCCCCCTCCCCCCCCCTCCTCCCCC CCCCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCC CCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCCCCTCCTC CTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCC CCTCCTCCT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0019 a0019	a0019c0031 a0019c0031	a0019c0031t0001 a0019c0031t0001	a0019c0031t0001g0166 a0019c0031t0001g0166	1	160	0.0063	408	c.427 others(425): Show c.427-1072_427-1071insCCCTCCTCCCTCCTCCTCCCCCCTCCTC CTCCCCCCTCCCACTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCC CCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCCCTCCCCCCCCCTC CTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCCT CCTCCCCCCCCTCCTCCCCCCCCTCCTCCCCCCCCTCCTCCCCCCCCTCC CCCCCCCTCCTCCCCCCCCCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCC CCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTC CTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCT CCTCCTCCTCCTCCCCCCTCCTCCTCCTCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GUCY1A2_chr11_106669019_107023476	106710137	T T	TTATATAC others(401): Show TTATATACATGTATATAACATATAGTTATGTATATTATATACATGTATAT AACATATAGTTATGTATATTATATACATGTATATAACATATAGTTATGTA TATTATATACATGTATATAACATATAGTTATGTATATTATATACATGTAT ATAACATATAGTTATGTATATTATATACATGTATATAACATATAGTTATG TATATTATATACATGTATATAACATATAGTTATGTATATTATATACATGT ATATAACATATAGTTATGTATATTATATACATGTATATAACTATATGTAT ATAATATATAGTACATGTATATAATATATAGTTATATATAATATAGTTAT ATACATGTATATAATATATAGTTATATATAATAGTTATATATATTATATA CATGTATAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02630.hp2 HG02896.hp1 others(1): Show HG01192.hp1 HG02630.hp2 HG02896.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0019 a0001c0001t0046 others(1): Show a0001c0001t0003 a0001c0001t0019 a0001c0001t0046 a0001c0003t0018	a0001c0001t0003g0091 a0001c0001t0019g0050 a0001c0001t0046g0030 others(1): Show a0001c0001t0003g0091 a0001c0001t0019g0050 a0001c0001t0046g0030 a0001c0003t0018g0253	4	239	0.0167	408	c.183 others(427): Show c.1837-1472_1837-1471insTTATACATGTATATAATATATATAAC TATTATATATAACTATATATTATATACATGTATATAACTATATTATATAT AACTATATATTATATACATGTACTATATATTATATACATATAGTTATATA CATGTATATAATATACATAACTATATGTTATATACATGTATATAATATAC ATAACTATATGTTATATACATGTATATAATATACATAACTATATGTTATA TACATGTATATAATATACATAACTATATGTTATATACATGTATATAATAT ACATAACTATATGTTATATACATGTATATAATATACATAACTATATGTTA TATACATGTATATAATATACATAACTATATGTTATATACATGTATATAAT ATACATAACTATATGTTATATACATGTATATA	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
HELZ2_chr20_63553086_63579239	63571908	T T	TGGTGGGC others(401): Show TGGTGGGCTCCTGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCT GTGGTGGGCTCCTGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCC TGTGGTGGGCTCCTGCCCTGCTCCAAGCTCCTGGGAACCTCTGGCTCTGC CTGTGGTGGGCTCCTGCCCTGCTCCAAGCTCCTGGGAACCTCTGGCTCTG CCTGTGGTGGGCTCCTGCCCTGCTCCAAGCTCCTGGGAACCTCTGGCTCT GCCTGTGGTGGGCTCCTGCCCCACTCCAAGCTCCTGGGAACCTCTGGCTC TGCCTACGGTGGGCTCCTGCCCTACTCCAAGCTCCTGGGAACCTCTGGCT CTGCCTGTGGTGGGCTCCTGCCCCGCTCCAAGCTCCTGGGAACCTCTGGC TCTGCCTAC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0070 a0070	a0070c0049 a0070c0049	a0070c0049t0087 a0070c0049t0087	a0070c0049t0087g0237 a0070c0049t0087g0237	1	385	0.0026	408	c.278 others(423): Show c.278+199_278+200insGTAGGCAGAGCCAGAGGTTCCCAGGAGCTT GGAGCGGGGCAGGAGCCCACCACAGGCAGAGCCAGAGGTTCCCAGGAGCT TGGAGTAGGGCAGGAGCCCACCGTAGGCAGAGCCAGAGGTTCCCAGGAGC TTGGAGTGGGGCAGGAGCCCACCACAGGCAGAGCCAGAGGTTCCCAGGAG CTTGGAGCAGGGCAGGAGCCCACCACAGGCAGAGCCAGAGGTTCCCAGGA GCTTGGAGCAGGGCAGGAGCCCACCACAGGCAGAGCCAGAGGTTCCCAGG AGCTTGGAGCAGGGCAGGAGCCCACCACAGGCAGAGCCAGAGGTTCCCAG GAGCTTGGAGCGGGGCAGGAGCCCACCACAGGCAGAGCCAGAGGTTCCCA GGAGCTTGGAGCGGGGCAGGAGCCCACC	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	2/19			chr20	TogoVar
HPCAL1_chr2_10297904_10432604	10399424	T T	TCACCACC others(401): Show TCACCACCACCACCACCATCACCATCACCACCACCACCACCATCACCATC ATCACCACCATCACCACCACCATCACCATCACCACCACCGCCGCCACCAC CACCATCACCATCATCACCGCCGCCACCACCACCACCATCACCATCATCA CCGCCGCCACCACCACCACCATCACCACCACCATCACCACCACCATCACC ATCATCACCGCCACCACCACCACCACCATCACCACCACAACCACCACCAC CACCATCACCACCACTACCATCATCACCACCACCACCACCACCACCATCA CCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACC ATCATCACCATCACCACCACCACCACCACCACCACCATCACCACCACCAT CACCACCAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	174	0.0057	408	c.-25 others(425): Show c.-25+2568_-25+2569insACCACCATCACCATCACCACCACCGCCG CCACCACCACCATCACCATCATCACCGCCGCCACCACCACCACCATCACC ATCATCACCGCCGCCACCACCACCACCATCACCACCACCATCACCACCAC CATCACCATCATCACCGCCACCACCACCACCACCATCACCACCACAACCA CCACCACCACCATCACCACCACTACCATCATCACCACCACCACCACCACC ACCATCACCACCACCACCACCACCACCACCATCACCACCACCACCACCAC CACCACCATCATCACCATCACCACCACCACCACCACCACCACCATCACCA CCACCATCACCACCACCACCACCACCACCACCATCACCATCACCACCACC ACCACCATCACCATCATCACCACCATCACC	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
INPP5A_chr10_132532787_132788480	132775058	G G	GGCAGGGA others(401): Show GGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGC AGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGG GAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAG GAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGG CAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAG GGAGGAGAGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGGGGCAGGGA GGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGA GAGAGGGGC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	192	0.0052	408	c.978 others(425): Show c.978-2613_978-2612insGCAGGGAGGAGAAACGGGCAGGGAGGAG AGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGG CAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAG GGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGA GGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGA GAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAG AGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGATG GGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGC AGGGAGGAGGGGCAGGGAGGAGAGAGGGGC	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15			chr10	TogoVar
JPH2_chr20_44101590_44192188	44134114	A A	AATATTAT others(401): Show AATATTATAAATATATAAATATTATAAATATATAAATATTTATTATAAAT ATATAAATATTTATTATAAATATATAAATATTTATTATAAATATATAAAT ATTTATTATAAATATATAAATATTTATTATAAATATATAAATATTTATTA TAAATATATAAATATTTATTATAAATATATAAATATTTATTATAAATATA TAAATATTTATTATAAATATATAAATATTTATTATAAATATATAAATATT TATTATAAATATATAAATATTTATTATAAATATATAAATATTTATTATAA ATATATAAATATTTATTATAAATATATAAATATTTATTATAAATATATAA ATATTTATTATAAATATATAAATATTTATTATAAATATATAAATATTTAT TATAAATAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0024 a0001c0004t0008g0024	1	331	0.0030	408	c.117 others(429): Show c.1170-15492_1170-15491insATATTTATAATAAATATTTATATA TTTATAATAAATATTTATATATTTATAATAAATATTTATATATTTATAAT AAATATTTATATATTTATAATAAATATTTATATATTTATAATAAATATTT ATATATTTATAATAAATATTTATATATTTATAATAAATATTTATATATTT ATAATAAATATTTATATATTTATAATAAATATTTATATATTTATAATAAA TATTTATATATTTATAATAAATATTTATATATTTATAATAAATATTTATA TATTTATAATAAATATTTATATATTTATAATAAATATTTATATATTTATA ATAAATATTTATATATTTATAATAAATATTTATATATTTATAATAAATAT TTATATATTTATAATATTTATATATTTATAATAT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
KBTBD11_chr8_1968677_2011936	1969684	T T	TATACATA others(401): Show TATACATATATAAATATATGAATATATAAAATATATAAATATATAAATAT ATATAAATAAATATATAAATATATACAAATATATAAATAAATATATAAAT ATATAAATATAAATATATATTTATAGATATATAGATTTTACGTTTAAAAT ATATATTTTATAGATTTTATATTTAAAATATATATTTATAGATTTTATAT TTAAAAATATATTTTATATATTTTATACATAAAATATAATATATAAAATA TATAAATCATATAAAATTTATATTTTATGTATAAATATAAATGAATATAA AAATATATTATATGTTATATATTATATATTATGTTATATATTATATATTA TTATATTATATATATTATAATATGTATTATATTATATATTATATAATATA AAATATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG03486.hp1 HG01891.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0054 a0001c0001t0018 a0001c0001t0054	a0001c0001t0018g0359 a0001c0001t0054g0358 a0001c0001t0018g0359 a0001c0001t0054g0358	2	10	0.2000	408	c.-51 others(419): Show c.-5160_-5159insATACATATATAAATATATGAATATATAAAATATA TAAATATATAAATATATATAAATAAATATATAAATATATACAAATATATA AATAAATATATAAATATATAAATATAAATATATATTTATAGATATATAGA TTTTACGTTTAAAATATATATTTTATAGATTTTATATTTAAAATATATAT TTATAGATTTTATATTTAAAAATATATTTTATATATTTTATACATAAAAT ATAATATATAAAATATATAAATCATATAAAATTTATATTTTATGTATAAA TATAAATGAATATAAAAATATATTATATGTTATATATTATATATTATGTT ATATATTATATATTATTATATTATATATATTATAATATGTATTATATTAT ATATTATATAATATAAAATATAAA	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding		3992		chr8	TogoVar
KCNK10_chr14_88175108_88328269	88310229	G G	GATATACC others(401): Show GATATACCATATCATATGGTATATCATATACCATATCATATGGTATATCA TATACCATATCATATGGTATATCATATACCATATCATATGGTATATCATA TACCATATCATATGGTATATCATATACCATATCATATGGTATATCATATA CCATATCATATGGTATATCATATACCATATCATATGGTATATCATATACC ATATCATATGGTATATCATATACCATATCATATGGTATATCATATACCAT ATCATATGGTATATCATATACCATATCATATGGTATATCATATACCATAT CATATGGTATATCATATACCATATCATATGGTATATCATATACCATATCA TATGGTATATCATATACCATATCATATGGTATATCATATACCATATCATA TGGTATATC	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0033 a0001c0001t0017g0033	1	254	0.0039	408	c.52+ others(425): Show c.52+12517_52+12518insGATATACCATATGATATGGTATATGATA TACCATATGATATGGTATATGATATACCATATGATATGGTATATGATATA CCATATGATATGGTATATGATATACCATATGATATGGTATATGATATACC ATATGATATGGTATATGATATACCATATGATATGGTATATGATATACCAT ATGATATGGTATATGATATACCATATGATATGGTATATGATATACCATAT GATATGGTATATGATATACCATATGATATGGTATATGATATACCATATGA TATGGTATATGATATACCATATGATATGGTATATGATATACCATATGATA TGGTATATGATATACCATATGATATGGTATATGATATACCATATGATATG GTATATGATATACCATATGATATGGTATAT	KCNK10	ENSG00000100433.16	transcript	ENST00000319231.10	protein_coding	1/6			chr14	TogoVar
KCNK2_chr1_215077737_215242090	215209559	T T	TATATATA others(401): Show TATATATATAAAATAGATATTATATATAAAATATATAAAATAGATATATA TAAAATATATAAAATAGATATTATATATAAAATATATATAATATATATAT AAAATAGATATTATATATAAAATATATATTATATATTATATAAAATAGAT ATTATATATAAAATATATATTATATATTATATAAAATATATATTATATAT TATATAATATATAATATATATTATATATATTATATATTATATATTAAATA TATATTATATATATAAAATATATATAAAATATATATTATATAAAATATAT ATTATATATAAAATATATACTATATATAAAATATATATTATATATAAAAT ATATACTATATATAAAATATATAATATATATAAAATATATATTATATATA AAATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0244 a0001c0001t0025g0244	1	201	0.0050	408	c.963 others(427): Show c.963+14477_963+14478insAATAGATATTATATATAAAATATATA AAATAGATATATATAAAATATATAAAATAGATATTATATATAAAATATAT ATAATATATATATAAAATAGATATTATATATAAAATATATATTATATATT ATATAAAATAGATATTATATATAAAATATATATTATATATTATATAAAAT ATATATTATATATTATATAATATATAATATATATTATATATATTATATAT TATATATTAAATATATATTATATATATAAAATATATATAAAATATATATT ATATAAAATATATATTATATATAAAATATATACTATATATAAAATATATA TTATATATAAAATATATACTATATATAAAATATATAATATATATAAAATA TATATTATATATAAAATATATAATATATATAA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNK2_chr1_215077737_215242090	215209559	T T	TATATATA others(401): Show TATATATATAAAATAGATATTATATATAAAATATATAAAATAGATATATA TAAAATATATAAAATAGATATTATATATAAAATATATATAATATATATAT AAAATAGATATTATATATAAAATATATATTATATATTATATAAAATAGAT ATTATATATAAAATATATATTATATATTATATAAAATATATATTATATAT TATATAATATATAATATATATTATATATATTATATATTATATATTAAATA TATATTATATATATAAAATATATATAAAATATATATTATATAAAATATAT ATTATATATAAAATATATACTATATATAAAATATATATTATATATAAAAT ATATACTATATATAAAATATATAATATATATAATATATATATTATATATA AAATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG02055.hp2 others(9): Show HG01109.hp2 HG01884.hp1 HG02055.hp2 HG02280.hp2 HG02451.hp2 HG02622.hp2 HG02922.hp1 HG02965.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0024 a0001c0001t0025 others(3): Show a0001c0001t0013 a0001c0001t0024 a0001c0001t0025 a0001c0001t0037 a0001c0001t0050 a0001c0001t0064	a0001c0001t0013g0127 a0001c0001t0013g0128 a0001c0001t0013g0129 others(9): Show a0001c0001t0013g0127 a0001c0001t0013g0128 a0001c0001t0013g0129 a0001c0001t0013g0134 a0001c0001t0024g0124 a0001c0001t0024g0131 a0001c0001t0025g0123 a0001c0001t0025g0132 a0001c0001t0037g0122 a0001c0001t0037g0133 a0001c0001t0050g0258 a0001c0001t0064g0257	12	212	0.0566	408	c.963 others(427): Show c.963+14477_963+14478insAATAGATATTATATATAAAATATATA AAATAGATATATATAAAATATATAAAATAGATATTATATATAAAATATAT ATAATATATATATAAAATAGATATTATATATAAAATATATATTATATATT ATATAAAATAGATATTATATATAAAATATATATTATATATTATATAAAAT ATATATTATATATTATATAATATATAATATATATTATATATATTATATAT TATATATTAAATATATATTATATATATAAAATATATATAAAATATATATT ATATAAAATATATATTATATATAAAATATATACTATATATAAAATATATA TTATATATAAAATATATACTATATATAAAATATATAATATATATAATATA TATATTATATATAAAATATATAATATATATAA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNMB2_chr3_178531436_178849429	178758786	T T	TATCTCCA others(401): Show TATCTCCAAAAGGAGATATATATATATATATATATCTCCAAAAGGAGATA TATATATATATATATATCTCCAAAAGGAGATATATATATATATATATATC TCCAAAAGGAGATATATATATATATATATATCTCCAAAAGGAGATATATA TATATATATATATCTCCAAGAGGAGATATATATATATATATATCTCCAAG AGGAGATATATATATATATATATCTCCAAGAGGAGATATATATATATATC TCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATATATATATA TATATATATCTCCAAGAGGAGATATATATATATATATATCTCCAAGAGGG ATATATATATATATATATATATATATATATATATATATATATATATATCT CCAAGAGGG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	178	0.0056	408	c.-67 others(427): Show c.-67-48555_-67-48554insCTCCAAAAGGAGATATATATATATAT ATATATCTCCAAAAGGAGATATATATATATATATATATCTCCAAAAGGAG ATATATATATATATATATATCTCCAAAAGGAGATATATATATATATATAT ATCTCCAAAAGGAGATATATATATATATATATATCTCCAAGAGGAGATAT ATATATATATATATCTCCAAGAGGAGATATATATATATATATATCTCCAA GAGGAGATATATATATATATCTCCAAGAGGAGATATATATATATATCTCC AAGAGGAGATATATATATATATATATATATCTCCAAGAGGAGATATATAT ATATATATATCTCCAAGAGGGATATATATATATATATATATATATATATA TATATATATATATATATATCTCCAAGAGGGAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNQ2_chr20_63395208_63477655	63442773	T T	TTACCACC others(401): Show TTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACC ACCACCACCATCACCATCACCACCACCACCACCATCACCACCACCACCAT CACCACCACCACCACCACCACCACCATCACCACCATCACCACCATCACCA CCATCACCACCACCACCACCATCACCACCATCACCATCACCACCATCACC ATCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCAC CATCACCACCACCACCACCATCACCATCACCACCACCATCACCATTATCA CCACCACCATCACCACCATCACCACCACCACCATCACCATCACCACCACC ATCACCATTATCACCACCACCATCACCACCATCACCATCACCACCATCAC CATCACCAC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0072 a0001c0002t0072	a0001c0002t0072g0089 a0001c0002t0072g0089	1	196	0.0051	408	c.691 others(423): Show c.691-243_691-242insGTGGTGATGGTGATGGTGGTGATGGTGATG GTGGTGATGGTGGTGGTGATAATGGTGATGGTGGTGGTGATGGTGATGGT GGTGGTGGTGATGGTGGTGATGGTGGTGGTGATAATGGTGATGGTGGTGG TGATGGTGATGGTGGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTA ATGGTGGTGGTAATGGTGATGGTGGTGATGGTGATGGTGGTGATGGTGAT GGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGG TGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGAT GGTGATGGTGGTGGTAATGGTGGTGGTA	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63442773	T T	TTACCACC others(401): Show TTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACC ACCACCACCATCACCATCACCACCACCACCACCATCACCACCACCACCAT CACCACCACCACCACCATCACCACCACCACCACCACCATCACCACCATCA CCATCACCACCACCACCACCATCACCACCATCACCATCACCACCATCACC ATCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCAC CATCACCACCACCACCACCATCACCATCACCACCACCATCACCATTATCA CCACCACCATCACCACCATCACCACCACCACCATCACCATCACCACCACC ATCACCATTATCACCACCACCATCACCACCATCACCATCACCACCATCAC CATCACCAC	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0008 a0002c0001t0008	a0002c0001t0008g0087 a0002c0001t0008g0087	1	196	0.0051	408	c.691 others(423): Show c.691-243_691-242insGTGGTGATGGTGATGGTGGTGATGGTGATG GTGGTGATGGTGGTGGTGATAATGGTGATGGTGGTGGTGATGGTGATGGT GGTGGTGGTGATGGTGGTGATGGTGGTGGTGATAATGGTGATGGTGGTGG TGATGGTGATGGTGGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTA ATGGTGGTGGTAATGGTGATGGTGGTGATGGTGATGGTGGTGATGGTGAT GGTGGTGATGGTGGTGGTGGTGGTGATGGTGATGGTGGTGATGGTGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGAT GGTGATGGTGGTGGTAATGGTGGTGGTA	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63442773	T T	TTACCACC others(401): Show TTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACC ACCACCACCATCACCATCACCACCACCACCACCATCACCACCACCACCAT CACCACCACCACCATCACCACCACCATCACCACCATCACCACCATCACCA CCATCACCACCACCACCACCATCACCACCATCACCATCACCACCATCACC ATCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCAC CATCACCACCACCACCACCATCACCATCACCACCACCATCACCATTATCA CCACCACCATCACCACCATCACCACCACCACCATCACCATCACCACCACC ATCACCATTATCACCACCACCATCACCACCATCACCATCACCACCATCAC CATCACCAC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0086 a0002c0001t0001g0086	1	196	0.0051	408	c.691 others(423): Show c.691-243_691-242insGTGGTGATGGTGATGGTGGTGATGGTGATG GTGGTGATGGTGGTGGTGATAATGGTGATGGTGGTGGTGATGGTGATGGT GGTGGTGGTGATGGTGGTGATGGTGGTGGTGATAATGGTGATGGTGGTGG TGATGGTGATGGTGGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTA ATGGTGGTGGTAATGGTGATGGTGGTGATGGTGATGGTGGTGATGGTGAT GGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGG TGATGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGAT GGTGATGGTGGTGGTAATGGTGGTGGTA	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63442773	T T	TTACCACC others(401): Show TTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACC ACCACCATCACCATCACCACCACCACCACCATCACCACCACCACCATCAC CACCACCACCACCATCACCACCACCACCACCACCATCACCACCATCACCA CCATCACCACCACCACCACCATCACCACCATCACCATCACCACCATCACC ATCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCAC CATCACCACCACCACCACCATCACCATCACCACCACCATCACCATTATCA CCACCACCATCACCACCATCACCACCACCACCATCACCATCACCACCACC ATCACCATTATCACCACCACCATCACCACCATCACCATCACCACCATCAC CATCACCAC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02280.hp1 HG03130.hp1 others(5): Show HG01361.hp2 HG02280.hp1 HG03130.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp2 NA18522.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0002c0024 a0001c0002 a0002c0001 a0002c0024	a0001c0002t0023 a0001c0002t0079 a0002c0001t0019 others(2): Show a0001c0002t0023 a0001c0002t0079 a0002c0001t0019 a0002c0001t0048 a0002c0024t0008	a0001c0002t0023g0170 a0001c0002t0079g0095 a0002c0001t0019g0092 others(5): Show a0001c0002t0023g0170 a0001c0002t0079g0095 a0002c0001t0019g0092 a0002c0001t0019g0094 a0002c0001t0019g0219 a0002c0001t0019g0237 a0002c0001t0048g0195 a0002c0024t0008g0093	8	203	0.0394	408	c.691 others(423): Show c.691-243_691-242insGTGGTGATGGTGATGGTGGTGATGGTGATG GTGGTGATGGTGGTGGTGATAATGGTGATGGTGGTGGTGATGGTGATGGT GGTGGTGGTGATGGTGGTGATGGTGGTGGTGATAATGGTGATGGTGGTGG TGATGGTGATGGTGGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTA ATGGTGGTGGTAATGGTGATGGTGGTGATGGTGATGGTGGTGATGGTGAT GGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATG GTGGTGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGATGGTGAT GGTGATGGTGGTGGTAATGGTGGTGGTA	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KDM4B_chr19_4964113_5158598	5131596	A A	AGGGGAGG others(401): Show AGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGG GGGCAGGGAGGAGGGGGGCAGGTGGGGTGGAGCGGGGGAGGCAGGGAGGA GGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGG GGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTG GGGCGGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGG AGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGAGCGGGGGAGGCAGGG AGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCA CAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGG GGTGGGGCG	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0196 a0002c0003t0004g0196	1	237	0.0042	408	c.178 others(425): Show c.1785+102_1785+103insGCAGGGAGGAGGGGGGCAGGTGGGGTGG AGCGGGGGAGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGA GGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGA GGAGGGGGGCAGGTGGGGTGGGGCGGGGGAGGAGGGGGCAGGTGGGGCAC AGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGG GTGGAGCGGGGGAGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGG AGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCA GGGAGGAGGGGGGCAGGTGGGGTGGGGCGGGGGAGGAGGGGGCAGGTGGG GCACAGGGGAGCTGGTGGCGGGGGAGGGGG	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	12/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
LRGUK_chr7_134122340_134269595	134190878	A A	AAAGCAGT others(401): Show AAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGA TAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGC GGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGG GATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGA GCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTG GGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGATAGACAGTAGTT GAGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTC TGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGATAGACAGTAG TTGAGCGGT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18999.hp1 NA19000.hp2 others(2): Show NA18943.hp1 NA18999.hp1 NA19000.hp2 NA19007.hp2 NA19062.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0024 a0001c0003t0003g0129 a0001c0003t0003g0130 others(2): Show a0001c0003t0003g0024 a0001c0003t0003g0129 a0001c0003t0003g0130 a0001c0003t0003g0132 a0001c0003t0003g0134	5	117	0.0427	408	c.133 others(425): Show c.1335-709_1335-708insAAGCAGTTCTGGGGATAGACAGTAGTTG AGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCT GGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGATAGACAGTAGT TGAGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTT CTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGATAGACAGTA GTTGAGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAG TTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGATAGACAG TAGTTGAGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGC AGTTCTGGGGATAGACAGTAGTTGAGCGGT	LRGUK	ENSG00000155530.4	transcript	ENST00000285928.3	protein_coding	11/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
LRRC27_chr10_132327193_132386508	132364375	A A	ACCCTTAC others(401): Show ACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACAC CCACGCTTACATCTACCTCCACGCCCACACTTACACCCACCCTTACATCT ACCTCCACACCCACACTTACACCCACCCACACTTACACCCACACTTACAT CTACCTCCACACCCACACTTACACCCACACTTACATCTACCTCCACACTC GCACTTACACCCACCCACACTTACACCCACACTTACATCTACCTCCACAC CCACACTTACACCCACACTTACATCTACCTCCACACCCACACTTACACCC ACACTTACATCTACCTCCACACCCACACTTACACCCACACTTACATCTAC CTCCACACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCT ACCTCCACG	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	259	0.0039	408	c.129 others(427): Show c.1290-1046_1290-1045insTTACATCTACCTCCACACCCACACTC ACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACGCCCACAC TTACACCCACCCTTACATCTACCTCCACACCCACACTTACACCCACCCAC ACTTACACCCACACTTACATCTACCTCCACACCCACACTTACACCCACAC TTACATCTACCTCCACACTCGCACTTACACCCACCCACACTTACACCCAC ACTTACATCTACCTCCACACCCACACTTACACCCACACTTACATCTACCT CCACACCCACACTTACACCCACACTTACATCTACCTCCACACCCACACTT ACACCCACACTTACATCTACCTCCACACCCACACTCACACCCACCCACAC TTACACCCACGCTTACATCTACCTCCACGCCC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAN2B2_chr4_6570189_6628362	6579325	C C	CCACCACC others(401): Show CCACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACC ACCATCACCACCACCACCATCACCACCACCACCACCACCACCATCACCAC CATCACCACCACCACCATCACCACCACCATCACCACCACCACCACCACCA TCACCACCATCACCACCACCACCATCACCACCACCACCATCACCACCACC ACCATCACCACCACCACCACCACCACCACCACCACCACCACCATCACCAC CACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCA TCACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACC ACCACCACCATCACCATCACCACCACCACCATCACCACCATCACCACCAC CACCACCAT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0012 a0012	a0012c0022 a0012c0022	a0012c0022t0001 a0012c0022t0001	a0012c0022t0001g0286 a0012c0022t0001g0286	1	255	0.0039	408	c.391 others(423): Show c.391+838_391+839insTCACCACCACCACCACCACCACCACCACCA CCATCACCACCATCACCACCACCACCATCACCACCACCACCACCACCACC ATCACCACCATCACCACCACCACCATCACCACCACCATCACCACCACCAC CACCACCATCACCACCATCACCACCACCACCATCACCACCACCACCATCA CCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACC ATCACCACCACCACCACCACCACCACCACCACCATCACCACCATCACCAC CACCACCATCACCACCACCACCACCACCACCACCATCACCACCATCACCA CCACCACCACCACCACCATCACCATCACCACCACCACCATCACCACCATC ACCACCACCACCACCATCACCACCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAN2B2_chr4_6570189_6628362	6579325	C C	CCACCACC others(401): Show CCACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACC ACCATCACCACCACCACCATCACCACCACCACCACCACCACCATCACCAC CATCACCACCACCACCATCACCACCACCATCACCATCACCACCACCACCA TCACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCATC ACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCAC CATCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCA TCACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACC ACCACCACCATCACCATCACCACCACCACCATCACCACCATCACCACCAC CACCACCAT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	255	0.0039	408	c.391 others(423): Show c.391+838_391+839insTCACCACCACCACCACCACCACCACCACCA CCATCACCACCATCACCACCACCACCATCACCACCACCACCACCACCACC ATCACCACCATCACCACCACCACCATCACCACCACCATCACCATCACCAC CACCACCATCACCACCATCACCACCACCACCACCACCACCATCACCACCA CCACCATCACCACCACCACCATCACCACCACCACCACCACCACCACCACC ACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACCAC CACCACCATCACCACCACCACCACCACCACCACCATCACCACCATCACCA CCACCACCACCACCACCATCACCATCACCACCACCACCATCACCACCATC ACCACCACCACCACCATCACCACCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MBD3L3_chr19_7051207_7063676	7061746	T T	TATTATAT others(401): Show TATTATATAATATAATTATATATATAATTATAATATAATATAATTATATA ATATATAATTTATATATAATATAATTATATAATATATAATTTATATATAA TATAATTATATAATATATAATTTATATATAATATAATTATATAATATATA ATTTATATATAATATAATTATATAATATATAATTTATATATAATATAATT ATATAATATATAATTTATATATAATATAATTATATAATATATAATTTATA TATAATATAATTATATAATATATAATTTATATATAATATAATTATATAAT ATATAATTTATATATAATATAATTATATAATATATAATTTATATATAATA TAATTATATAATATATAATTTATATATTATATAATTATATAATATATAAT TTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	247	0.0040	408	c.-31 others(419): Show c.-3142_-3141insTATATATAAATTATATATTATATAATTATATAAT ATATAAATTATATATTATATAATTATATTATATATAAATTATATATTATA TAATTATATTATATATAAATTATATATTATATAATTATATTATATATAAA TTATATATTATATAATTATATTATATATAAATTATATATTATATAATTAT ATTATATATAAATTATATATTATATAATTATATTATATATAAATTATATA TTATATAATTATATTATATATAAATTATATATTATATAATTATATTATAT ATAAATTATATATTATATAATTATATTATATATAAATTATATATTATATA ATTATATTATATATAAATTATATATTATATAATTATATTATATTATAATT ATATATATAATTATATTATATAAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3071		chr19	TogoVar
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(401): Show ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCAC AGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAAC CCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAG CCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCC ACAGCCACCAGACAACGCACAGCCACCAGACAACGCGCAGCCACCAGACA ACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCA GACAACGCG	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0091 a0091	a0091c0087 a0091c0087	a0091c0087t0051 a0091c0087t0051	a0091c0087t0051g0049 a0091c0087t0051g0049	1	83	0.0120	408	c.377 others(425): Show c.377-3834_377-3833insCGCGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGCGCGTTGTCTGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(401): Show ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCAC AGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAAC CCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAG CCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCC ACAGCCACCAGACAACGCACAGCCACCAGACAACGCGCAGCCACCAGACA ACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCA GACAACGCG	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0006 a0005c0005t0006	a0005c0005t0006g0217 a0005c0005t0006g0217	1	83	0.0120	408	c.377 others(425): Show c.377-3834_377-3833insCGCGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGG TGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGCGCGTTGTCTGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(401): Show ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCAC AGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAAC CCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAG CCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCC ACAGCCACCAGACAACGCACAGCCACCAGACAACGCGCAGCCACCAGACA ACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCA GACAACGCG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0028 a0028	a0028c0024 a0028c0024	a0028c0024t0001 a0028c0024t0001	a0028c0024t0001g0050 a0028c0024t0001g0050	1	83	0.0120	408	c.377 others(425): Show c.377-3834_377-3833insCGCGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGG TGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGCGCGTTGTCTGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(401): Show ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCAC AGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAAC CCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAG CCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGC GCAGCCACCAGACAACCCACAGCCACCAGACAACGCACAGCCACCAGACA ACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCA GACAACGCG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01261.hp2 HG01346.hp1 others(13): Show HG00099.hp1 HG01261.hp2 HG01346.hp1 HG01981.hp1 HG01993.hp1 HG02155.hp1 HG02738.hp2 NA18949.hp1 NA18952.hp2 NA18959.hp1 NA18962.hp2 NA18983.hp2 NA18998.hp1 NA18999.hp1 NA19004.hp1 NA19085.hp2	a0005 a0013 a0018 others(6): Show a0005 a0013 a0018 a0026 a0027 a0053 a0054 a0059 a0092	a0005c0005 a0013c0018 a0013c0050 others(7): Show a0005c0005 a0013c0018 a0013c0050 a0018c0015 a0026c0026 a0027c0035 a0053c0120 a0054c0049 a0059c0079 a0092c0080	a0005c0005t0001 a0005c0005t0006 a0013c0018t0016 others(8): Show a0005c0005t0001 a0005c0005t0006 a0013c0018t0016 a0013c0050t0013 a0018c0015t0001 a0026c0026t0001 a0027c0035t0001 a0053c0120t0001 a0054c0049t0003 a0059c0079t0003 a0092c0080t0002	a0005c0005t0001g0024 a0005c0005t0001g0148 a0005c0005t0006g0213 others(13): Show a0005c0005t0001g0024 a0005c0005t0001g0148 a0005c0005t0006g0213 a0005c0005t0006g0215 a0005c0005t0006g0216 a0005c0005t0006g0218 a0013c0018t0016g0149 a0013c0018t0016g0150 a0013c0050t0013g0078 a0018c0015t0001g0057 a0026c0026t0001g0031 a0027c0035t0001g0039 a0053c0120t0001g0045 a0054c0049t0003g0029 a0059c0079t0003g0077 a0092c0080t0002g0214	16	98	0.1633	408	c.377 others(425): Show c.377-3834_377-3833insCGCGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGCGTT GTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGG TGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGCGCGTTGTCTGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(401): Show ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCAC AGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAAC CCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAG CCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGC GCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACA ACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCA GACAACGCG	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18944.hp2 HG02040.hp1 NA18944.hp2	a0026 a0042 a0026 a0042	a0026c0026 a0042c0025 a0026c0026 a0042c0025	a0026c0026t0001 a0042c0025t0001 a0026c0026t0001 a0042c0025t0001	a0026c0026t0001g0030 a0042c0025t0001g0028 a0026c0026t0001g0030 a0042c0025t0001g0028	2	84	0.0238	408	c.377 others(425): Show c.377-3834_377-3833insCGCGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGG TGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGCGCGTTGTCTGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(401): Show ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCAC AGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAAC CCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAG CCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGC GCAGCCACCAGACAACCCGCAGCCACCAGACAACGCACAGCCACCAGACA ACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCA GACAACGCG	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA19085.hp1 NA18950.hp2 NA19085.hp1	a0005 a0018 a0005 a0018	a0005c0019 a0018c0015 a0005c0019 a0018c0015	a0005c0019t0024 a0018c0015t0001 a0005c0019t0024 a0018c0015t0001	a0005c0019t0024g0037 a0018c0015t0001g0036 a0005c0019t0024g0037 a0018c0015t0001g0036	2	84	0.0238	408	c.377 others(425): Show c.377-3834_377-3833insCGCGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGCGTT GTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGG TGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGCGCGTTGTCTGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(401): Show ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCAC AGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAAC CCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAG CCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGC GCAGCCACCAGACAACCCGCAGCCACCAGACAACGCACAGCCACCAGACA ACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCA GACAACGCG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0016 a0016	a0016c0014 a0016c0014	a0016c0014t0001 a0016c0014t0001	a0016c0014t0001g0038 a0016c0014t0001g0038	1	83	0.0120	408	c.377 others(425): Show c.377-3834_377-3833insCGCGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGCGTT GTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGG TGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGCGCGTTGTCTGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(401): Show ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCAC AGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAAC CCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAATGCGCAG CCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCC ACAGCCACCAGACAACGCACAGCCACCAGACAACGCGCAGCCACCAGACA ACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCA GACAACGCG	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0089 a0089	a0089c0082 a0089c0082	a0089c0082t0001 a0089c0082t0001	a0089c0082t0001g0185 a0089c0082t0001g0185	1	83	0.0120	408	c.377 others(425): Show c.377-3834_377-3833insCGCGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCATTGTCTGGTGGC TGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGG TGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGCGCGTTGTCTGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MERTK_chr2_111893607_112034561	111944498	A A	AATTCCTT others(401): Show AATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAAT TCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGA ATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATA ATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAG GAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAA TAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTA AGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAA AATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTT TAAGGAATT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01928.hp2 HG02293.hp2 others(6): Show HG01109.hp1 HG01928.hp2 HG02293.hp2 HG02523.hp2 NA18612.hp2 NA19030.hp2 NA19057.hp2 NA19080.hp1 NA19240.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0017	a0001c0001 a0001c0013 a0002c0006 others(2): Show a0001c0001 a0001c0013 a0002c0006 a0004c0004 a0017c0023	a0001c0001t0001 a0001c0013t0001 a0002c0006t0001 others(2): Show a0001c0001t0001 a0001c0013t0001 a0002c0006t0001 a0004c0004t0001 a0017c0023t0001	a0001c0001t0001g0119 a0001c0013t0001g0079 a0001c0013t0001g0080 others(6): Show a0001c0001t0001g0119 a0001c0013t0001g0079 a0001c0013t0001g0080 a0002c0006t0001g0273 a0002c0006t0001g0274 a0002c0006t0001g0276 a0002c0006t0001g0277 a0004c0004t0001g0159 a0017c0023t0001g0270	9	55	0.1636	408	c.483 others(423): Show c.483-427_483-426insTTCCTTAAAATAATTCCTCTGTTTTAAGGA ATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATA ATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAG GAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAA TAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTA AGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAA AATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTT TAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTT AAAATAATTCCTCTGTTTTAAGGAATTA	MERTK	ENSG00000153208.19	transcript	ENST00000295408.9	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
METTL25B_chr1_156723469_156741960	156735542	A A	AAAAAAAA others(401): Show AAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAG CTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGA GCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTC TTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGG AGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTAC TCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGT AGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGA CGCCATCTC	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA18985.hp2 NA18986.hp1 others(1): Show HG02155.hp2 NA18985.hp2 NA18986.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	4	387	0.0103	408	c.112 others(425): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735542	A A	AAAAAAAA others(401): Show AAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAG CTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGA GCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTC TTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGG AGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTAC TCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGT AGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGA CGCCATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 NA18985.hp1 NA19007.hp2 HG02155.hp1 NA18985.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	361	0.0083	408	c.18 others(419): Show c.1855_*1856insGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAG TGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCC ACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC ATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTC GGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGC TGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAAT CCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCA TGCCTGCCTATTTTTTTTTTTTTT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1760		chr1	TogoVar

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