Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
COL6A2_chr21_46093112_46137848	46135886	C C	CCCCTCCC others(98): Show CCCCTCCCCAGCGTTCCCTCCCAGCCTCCCCTCCCAGCCTCCCCTCCCAG CATTCCCTCCCAGCATTCCCTCCCAGCATTCCCTCCCAGCATTCCCTCCC AGCATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0252 a0001c0009t0001g0252	1	236	0.0042	105	c.33 others(116): Show c.3334_*3335insCCCTCCCCAGCGTTCCCTCCCAGCCTCCCCTCCC AGCCTCCCCTCCCAGCATTCCCTCCCAGCATTCCCTCCCAGCATTCCCTC CCAGCATTCCCTCCCAGCATT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		3039		chr21	TogoVar
COMMD10_chr5_116080025_116298287	116158485	C C	CTCTCCTC others(98): Show CTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTC CTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTC TCCCCG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0285 a0001c0001t0002g0285	1	277	0.0036	105	c.510 others(124): Show c.510+24318_510+24319insTCCGTCTCCTCTCTCTCCGTCTCCTC TCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCT CCGTCTCCTCTCTCCCCGTCTCCTCTCTC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158485	C C	CTCTCCTC others(98): Show CTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTC CTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTC TCTCCG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	277	0.0036	105	c.510 others(124): Show c.510+24318_510+24319insTCCGTCTCCTCTCTCTCCGTCTCCTC TCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCT CCGTCTCCTCTCTCTCCGTCTCCTCTCTC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COPE_chr19_18894514_18924387	18902825	G G	GAAGGAAG others(98): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0185 a0001c0002t0001g0185	1	146	0.0068	105	c.735 others(120): Show c.735+442_735+443insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTT	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9			chr19	TogoVar
CPNE7_chr16_89570758_89602246	89587947	C C	CCCCCGTG others(98): Show CCCCCGTGTCAGCCACAGATACACGGCCCCCCGTGTCACCCACAGATACA CGGCCCCCGTGTCAGCCACAGATACATGGCCCCCCGTGTCACCCACAGAT ACACGG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0302 a0002c0004t0002g0302	1	321	0.0031	105	c.928 others(120): Show c.928-724_928-723insGTGTCAGCCACAGATACACGGCCCCCCGTG TCACCCACAGATACACGGCCCCCGTGTCAGCCACAGATACATGGCCCCCC GTGTCACCCACAGATACACGGCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588128	A A	ACCCACAG others(98): Show ACCCACAGATACACGGCCCCCGTGTCAGCCACAGATACACGGCCCCCCGT GTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGAA ACACGG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01258.hp1 others(2): Show HG01168.hp2 HG01169.hp1 HG01258.hp1 HG01943.hp2 HG02293.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0002 a0002c0004t0002g0296 a0002c0004t0002g0002 a0002c0004t0002g0296	5	315	0.0159	105	c.928 others(120): Show c.928-544_928-543insACAGATACACGGCCCCCGTGTCAGCCACAG ATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCG CGTGTCACCCACAGAAACACGGCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CRIM1_chr2_36350778_36556135	36543702	T T	TAAAAAGA others(98): Show TAAAAAGACCTCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCT GGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0010 a0001c0002t0003g0010	1	98	0.0102	105	c.262 others(122): Show c.2624-664_2624-663insCTTGCAGTGAGCCGAGATCCCGCCACTG CACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAGACCT	CRIM1	ENSG00000150938.10	transcript	ENST00000280527.7	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
CRLF2_chrX_1185490_1217649	1187338	C C	CAACTGTT others(98): Show CAACTGTTGAGTAGCGATCATTTGTTTCTGCGTTAATTCTTTTTTTAGTG TGTAATTTTTTTTTTTTTTTTTTTTAGGGGTAGTCTCACTCTGTCGCCCA GGCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0105 a0002c0004t0001g0105	1	165	0.0061	105	c.35 others(116): Show c.3558_*3559insCCAGCCTGGGCGACAGAGTGAGACTACCCCTAAA AAAAAAAAAAAAAAAAATTACACACTAAAAAAAGAATTAACGCAGAAACA AATGATCGCTACTCAACAGTT	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding		3151		chrX	TogoVar
CROCC2_chr2_240901336_240998311	240923662	T T	TCCCCCAC others(98): Show TCCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCC AGTCCCCCACACTAACCCGGCCCCCACACTGACCCGGCCCCCACACTGAC CCGGCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG00544.hp1 others(35): Show HG00140.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp2 HG00735.hp1 HG00735.hp2 HG01081.hp2 HG01175.hp2 HG01192.hp2 HG01256.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG02004.hp2 HG02300.hp1 NA18612.hp1 NA18747.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18971.hp2 NA18973.hp2 NA18981.hp1 NA18981.hp2 NA19012.hp1 NA19064.hp1 NA19065.hp1 NA19067.hp2 NA19070.hp1 NA19079.hp2 NA19082.hp2 NA19090.hp2	a0001 a0002 a0008 others(6): Show a0001 a0002 a0008 a0011 a0016 a0017 a0024 a0031 a0053	a0001c0001 a0002c0002 a0002c0012 others(8): Show a0001c0001 a0002c0002 a0002c0012 a0008c0008 a0011c0044 a0011c0045 a0016c0061 a0017c0063 a0024c0057 a0031c0093 a0053c0058	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0012t0002 a0008c0008t0002 a0011c0044t0002 a0011c0045t0002 a0016c0061t0002 a0017c0063t0004 a0024c0057t0002 a0031c0093t0001 a0053c0058t0002	a0001c0001t0001g0104 a0001c0001t0001g0122 a0001c0001t0001g0124 others(35): Show a0001c0001t0001g0104 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0191 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0265 a0001c0001t0002g0280 a0001c0001t0002g0293 a0001c0001t0002g0295 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0343 a0001c0001t0003g0198 a0001c0001t0004g0277 a0002c0002t0001g0123 a0002c0002t0002g0255 a0002c0002t0002g0263 a0002c0002t0002g0320 a0002c0002t0002g0329 a0002c0002t0002g0333 a0002c0012t0002g0284 a0002c0012t0002g0285 a0002c0012t0002g0286 a0002c0012t0002g0347 a0008c0008t0002g0260 a0008c0008t0002g0267 a0011c0044t0002g0301 a0011c0045t0002g0315 a0016c0061t0002g0294 a0017c0063t0004g0297 a0024c0057t0002g0338 a0031c0093t0001g0072 a0053c0058t0002g0296	38	241	0.1577	105	c.488 others(122): Show c.488+1021_488+1022insCACACTAACCCAGTCCCCACACTAACCC AGTCCCCACACTAACCCAGTCCCCCACACTAACCCGGCCCCCACACTGAC CCGGCCCCCACACTGACCCGGCCCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240923749	G G	GCCCCCAC others(98): Show GCCCCCACACTGACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACC CGGCCCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCACACTAA CCCGGC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0002 a0008c0008t0002	a0008c0008t0002g0302 a0008c0008t0002g0302	1	326	0.0031	105	c.488 others(122): Show c.488+1104_488+1105insCCCCCACACTGACCCGGCCCCCCACACT AACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCACA CTAACCCGGCCCCCACACTAACCCGGC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
CROCC2_chr2_240901336_240998311	240923905	G G	GCCCCCAC others(98): Show GCCCCCACACTAACCCGGCCCCCACACTAATCCGGCCCCCACACTAACCC GGCCCCTCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCACACTGA CCCGGC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0060 a0060	a0060c0047 a0060c0047	a0060c0047t0001 a0060c0047t0001	a0060c0047t0001g0188 a0060c0047t0001g0188	1	223	0.0045	105	c.488 others(122): Show c.488+1275_488+1276insGGCCCCCACACTAATCCGGCCCCCACAC TAACCCGGCCCCTCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCA CACTGACCCGGCCCCCCACACTAACCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924359	G G	GTCCCCAC others(98): Show GTCCCCACACTAACCCGGCCCCCACACTAATCCGGCCCCCACACTAACCC GGCCCCTCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCACACTGA CCCGGC	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0204 a0007c0007t0001g0204	1	257	0.0039	105	c.489 others(122): Show c.489-1365_489-1364insTCCCCACACTAACCCGGCCCCCACACTA ATCCGGCCCCCACACTAACCCGGCCCCTCACACTAACCCGGCCCCCCACA CTAACCCAGCCCCCACACTGACCCGGC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924638	C C	CCCCCACA others(98): Show CCCCCACACTGACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACC CAGCCCCCCACACTGACCCGGCCCCCACACTAACCCGGCCCCCCACACTA ATCCGG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02970.hp1 HG02258.hp1 HG02970.hp1	a0016 a0041 a0016 a0041	a0016c0073 a0041c0074 a0016c0073 a0041c0074	a0016c0073t0007 a0041c0074t0007 a0016c0073t0007 a0041c0074t0007	a0016c0073t0007g0232 a0041c0074t0007g0231 a0016c0073t0007g0232 a0041c0074t0007g0231	2	338	0.0059	105	c.489 others(122): Show c.489-1082_489-1081insACACTGACCCGGCCCCCCACACTAACCC GGCCCCCCACACTAACCCAGCCCCCCACACTGACCCGGCCCCCACACTAA CCCGGCCCCCCACACTAATCCGGCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924793	G G	GCCCCTCA others(98): Show GCCCCTCACACTAACCCAGCCCCCACACTGACCCGGCCCCCACACTGACC CGGCCCCCACACTGACCCAGCCCCCACACTAACCCGGCCCCTCACACTGA CCCGGC	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02300.hp2 HG01952.hp2 HG02300.hp2	a0007 a0033 a0007 a0033	a0007c0007 a0033c0049 a0007c0007 a0033c0049	a0007c0007t0001 a0033c0049t0001 a0007c0007t0001 a0033c0049t0001	a0007c0007t0001g0192 a0033c0049t0001g0200 a0007c0007t0001g0192 a0033c0049t0001g0200	2	291	0.0069	105	c.489 others(120): Show c.489-927_489-926insTCACACTAACCCAGCCCCCACACTGACCCG GCCCCCACACTGACCCGGCCCCCACACTGACCCAGCCCCCACACTAACCC GGCCCCTCACACTGACCCGGCCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924827	G G	GCCCCCAC others(98): Show GCCCCCACACTGACCCGGCCCCCACACTGACCCAGCCCCCCACACTAACC CAGCCCCCACACTAACCCAGCCCCCACACTGACCCGGCCCCCCACACTGA CCCGGC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01943.hp1 HG02280.hp2 others(1): Show HG01074.hp2 HG01943.hp1 HG02280.hp2 HG03471.hp1	a0001 a0002 a0030 a0001 a0002 a0030	a0001c0020 a0001c0060 a0002c0002 others(1): Show a0001c0020 a0001c0060 a0002c0002 a0030c0064	a0001c0020t0001 a0001c0060t0001 a0002c0002t0001 others(1): Show a0001c0020t0001 a0001c0060t0001 a0002c0002t0001 a0030c0064t0001	a0001c0020t0001g0137 a0001c0060t0001g0171 a0002c0002t0001g0010 others(1): Show a0001c0020t0001g0137 a0001c0060t0001g0171 a0002c0002t0001g0010 a0030c0064t0001g0008	4	299	0.0134	105	c.489 others(120): Show c.489-870_489-869insGACCCAGCCCCCCACACTAACCCAGCCCCC ACACTAACCCAGCCCCCACACTGACCCGGCCCCCCACACTGACCCGGCCC CCCACACTGACCCGGCCCCCACACT	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924828	C C	CCCCCCAC others(98): Show CCCCCCACACTAACCCGGCCCCTCACACTAACCCGGCCCCCACACTGACC CGGCCCCCACACTAACCCAGCCCCCACACTGACCCGGCCCCCCACACTAA CCCAGT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0001 a0009c0009t0001	a0009c0009t0001g0109 a0009c0009t0001g0109	1	302	0.0033	105	c.489 others(120): Show c.489-892_489-891insCACACTAACCCGGCCCCTCACACTAACCCG GCCCCCACACTGACCCGGCCCCCACACTAACCCAGCCCCCACACTGACCC GGCCCCCCACACTAACCCAGTCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSGALNACT1_chr8_19399161_19762277	19461464	A A	AGCCACAT others(98): Show AGCCACATTCACCATGGAGGACCTATCCACACAGCAGCCACATTCACCAT GGGGGCTGTATCCGCACAGCACACACATTCACCGTGGAGGGCGTATCCGC ACAGCG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00438.hp2 others(30): Show HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00673.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02040.hp1 HG02074.hp2 HG02109.hp1 HG02155.hp1 HG02155.hp2 HG02300.hp2 HG02523.hp2 HG02559.hp2 HG02630.hp2 HG03041.hp2 HG03195.hp2 HG03492.hp2 HG03831.hp2 HG03942.hp1 NA18747.hp1 NA18942.hp2 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18988.hp2 NA18992.hp2 NA18993.hp2 NA19054.hp1 NA19056.hp2 NA19066.hp1 NA19091.hp1	a0001 a0002 a0009 others(2): Show a0001 a0002 a0009 a0011 a0013	a0001c0001 a0002c0004 a0009c0015 others(2): Show a0001c0001 a0002c0004 a0009c0015 a0011c0020 a0013c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0017 a0001c0001t0019 a0001c0001t0036 a0002c0004t0003 a0002c0004t0012 a0009c0015t0002 a0011c0020t0030 a0013c0023t0001	a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0023 others(30): Show a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0062 a0001c0001t0001g0071 a0001c0001t0001g0125 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0151 a0001c0001t0001g0160 a0001c0001t0001g0193 a0001c0001t0001g0201 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0226 a0001c0001t0002g0146 a0001c0001t0002g0205 a0001c0001t0002g0212 a0001c0001t0010g0088 a0001c0001t0010g0202 a0001c0001t0017g0122 a0001c0001t0017g0165 a0001c0001t0019g0016 a0001c0001t0019g0082 a0001c0001t0036g0225 a0002c0004t0003g0020 a0002c0004t0012g0200 a0009c0015t0002g0060 a0011c0020t0030g0182 a0013c0023t0001g0196	33	235	0.1404	105	c.635 others(122): Show c.635-2823_635-2822insCGCTGTGCGGATACGCCCTCCACGGTGA ATGTGTGTGCTGTGCGGATACAGCCCCCATGGTGAATGTGGCTGCTGTGT GGATAGGTCCTCCATGGTGAATGTGGC	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19461486	C C	CTATCCGC others(98): Show CTATCCGCACAGCAGCCACATTCACCATGGGGGGCGTATCCGCACAGCGG CCACATTCACCATGGGGGGCGTATCCGCACAGCGGCCACATTCACCATGG GGGGCG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0128 a0002c0003t0007g0128	1	208	0.0048	105	c.635 others(122): Show c.635-2949_635-2845dupCGCCCCCCATGGTGAATGTGGCCGCTGT GCGGATACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGATACGCCCCCC ATGGTGAATGTGGCTGCTGTGCGGATA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19461499	A A	AGCCACAT others(98): Show AGCCACATTCACCATGGGGGGCGTATCCGCACAGCGGCCACATTCACCAT GGGGGGCGTATCCGCACAGCGGCCACATTCACCATGGGGGGCGTATCCGC ACAGCG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0190 a0002c0003t0005g0190	1	151	0.0066	105	c.635 others(122): Show c.635-2962_635-2858dupCGCTGTGCGGATACGCCCCCCATGGTGA ATGTGGCCGCTGTGCGGATACGCCCCCCATGGTGAATGTGGCCGCTGTGC GGATACGCCCCCCATGGTGAATGTGGC	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19461779	A A	AGCCACAT others(98): Show AGCCACATTCACCATGGATGGCGTATCTGCAAAGCAGCCACATTCACCAT GGGGGGCGTATCCACACAGCACACACATTCACCATGGAGGGCATATCCGC ACAGCG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	135	0.0074	105	c.635 others(122): Show c.635-3138_635-3137insCGCTGTGCGGATATGCCCTCCATGGTGA ATGTGTGTGCTGTGTGGATACGCCCCCCATGGTGAATGTGGCTGCTTTGC AGATACGCCATCCATGGTGAATGTGGC	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19461779	A A	AGCCACAT others(98): Show AGCCACATTCACCATGGATGGCGTATCTGCACAGCAGCCACATTCACCAT GGGGGGCGTATCCACACAGCACACACATTCACCATGGAGGGCATATCCGC ACAGCG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02132.hp2 HG02523.hp1 others(2): Show HG00597.hp1 HG02132.hp2 HG02523.hp1 HG03492.hp2 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0001 a0001c0001t0002 a0001c0001t0010	a0001c0001t0001g0012 a0001c0001t0001g0123 a0001c0001t0001g0210 others(2): Show a0001c0001t0001g0012 a0001c0001t0001g0123 a0001c0001t0001g0210 a0001c0001t0002g0087 a0001c0001t0010g0121	5	139	0.0360	105	c.635 others(122): Show c.635-3138_635-3137insCGCTGTGCGGATATGCCCTCCATGGTGA ATGTGTGTGCTGTGTGGATACGCCCCCCATGGTGAATGTGGCTGCTGTGC AGATACGCCATCCATGGTGAATGTGGC	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3448341	G G	GAAGGAAG others(98): Show GAAGGAAGGAAGGAAGGAAGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAG GAGGGAGGGAGGGAGGGAGGGAGGGAGGGGGGAGGGAGGGAGGGAGGGAG GGAGGA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02074.hp1 HG02074.hp2 others(2): Show HG01243.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp2 HG03017.hp2	a0001 a0002 a0014 others(1): Show a0001 a0002 a0014 a0026	a0001c0007 a0001c0079 a0002c0091 others(2): Show a0001c0007 a0001c0079 a0002c0091 a0014c0098 a0026c0100	a0001c0007t0032 a0001c0079t0070 a0002c0091t0002 others(2): Show a0001c0007t0032 a0001c0079t0070 a0002c0091t0002 a0014c0098t0027 a0026c0100t0016	a0001c0007t0032g0033 a0001c0079t0070g0113 a0002c0091t0002g0114 others(2): Show a0001c0007t0032g0033 a0001c0079t0070g0113 a0002c0091t0002g0114 a0014c0098t0027g0019 a0026c0100t0016g0121	5	104	0.0481	105	c.156 others(126): Show c.1561+20370_1561+20371insTCCTCCCTCCCTCCCTCCCTCCCT CCCCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTCCCTCCCTTCCTCCTC CCTCCCTCCCTTCTTCCTTCCTTCCTTCCTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CTBP1_chr4_1206445_1254130	1236848	G G	GGTGTCCA others(98): Show GGTGTCCACCTCCTGATGGGGCTCAGGGCAAACCGAATGTCCACCTCCTG ATGGGGCACAGGGCAAACCAAGTGTCCACCTCCTGATGGGGCACAGGGAA AACCCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02145.hp1 HG02257.hp2 others(16): Show HG01884.hp2 HG02145.hp1 HG02257.hp2 HG02630.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp2 HG03139.hp2 HG03540.hp1 NA18522.hp2 NA18906.hp2 NA19043.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0002 a0001c0001t0016 a0001c0001t0019 others(1): Show a0001c0001t0002 a0001c0001t0016 a0001c0001t0019 a0001c0008t0002	a0001c0001t0002g0023 a0001c0001t0002g0058 a0001c0001t0002g0108 others(15): Show a0001c0001t0002g0023 a0001c0001t0002g0058 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0170 a0001c0001t0002g0174 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0198 a0001c0001t0016g0196 a0001c0001t0019g0210 a0001c0008t0002g0197	19	420	0.0452	105	c.162 others(122): Show c.162+1334_162+1335insGGGGTTTTCCCTGTGCCCCATCAGGAGG TGGACACTTGGTTTGCCCTGTGCCCCATCAGGAGGTGGACATTCGGTTTG CCCTGAGCCCCATCAGGAGGTGGACAC	CTBP1	ENSG00000159692.18	transcript	ENST00000382952.8	protein_coding	3/9			chr4	TogoVar
CTNNA1_chr5_138748425_138940034	138777888	A A	AGAGGAGG others(98): Show AGAGGAGGGAGAGGGGGAGGAGGGAGAGGGGGAGGAGGGAGAGGGGGAGG AGGGAGAGGGGGAGGAGGGAGAGGGGGAGGAGGGAGAGGGGGAGGAGGGA GAGGGG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0175 a0001c0001t0006g0175	1	173	0.0058	105	c.-2- others(120): Show c.-2-4021_-2-4020insGGAGGAGGGAGAGGGGGAGGAGGGAGAGGG GGAGGAGGGAGAGGGGGAGGAGGGAGAGGGGGAGGAGGGAGAGGGGGAGG AGGGAGAGGGGGAGGAGGGAGAGGG	CTNNA1	ENSG00000044115.21	transcript	ENST00000302763.12	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
CYP4F11_chr19_15907377_15939529	15932755	A A	AGTGAGTG others(98): Show AGTGAGTGAGGAGAGGGAATGAGTGAGTGAGCAGAGGAATGAGTGAGCGA GGAGAGGAATGAGAGTGAGCGAGGAGAGGAATGAGTGAGTGAGGAGAGGA ATGAGT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0079 a0002c0001t0079	a0002c0001t0079g0052 a0002c0001t0079g0052	1	384	0.0026	105	c.198 others(122): Show c.198+1455_198+1456insACTCATTCCTCTCCTCACTCACTCATTC CTCTCCTCGCTCACTCTCATTCCTCTCCTCGCTCACTCATTCCTCTGCTC ACTCACTCATTCCCTCTCCTCACTCAC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15650812	T T	TTCTTTCT others(98): Show TTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTTCCTTCCTT CCATCTTTCTTTCTTTCTTTTTCTTTCGTTCTTTCTTTCTTTCTTTCTCT CTCTTC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0147 a0001c0002t0001g0147	1	292	0.0034	105	c.918 others(120): Show c.918+645_918+646insCTTTCTTTCTTTCTTTCTTTCTTTTCCTTC CTTCCATCTTTCTTTCTTTCTTTTTCTTTCGTTCTTTCTTTCTTTCTTTC TCTCTCTTCTCTTTCTTTCTTTCTT	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15650816	T T	TTCTTTCT others(98): Show TTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTTCCTTCCTTCCAT CTTTCTTTCTTTCTTTTTCTTTCGTTCTTTCTTTCTTTCTTTCTTTCTCT CTCTTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00642.hp1 others(4): Show HG00099.hp2 HG00280.hp2 HG00642.hp1 HG04204.hp2 NA18941.hp2 NA19007.hp2 NA19064.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0340 others(2): Show a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0340 a0001c0002t0001g0363 a0001c0002t0001g0368	7	315	0.0222	105	c.918 others(120): Show c.918+645_918+646insCTTTCTTTCTTTCTTTCTTTCTTTTCCTTC CTTCCATCTTTCTTTCTTTCTTTTTCTTTCGTTCTTTCTTTCTTTCTTTC TTTCTCTCTCTTCTCTTTCTTTCTT	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYTH3_chr7_6156779_6277624	6259760	T T	TATATATA others(98): Show TATATATATAATATATATATAATATATATATATAATATATATATATAATA TATATATAATATATATATATAATATATATATAATATATATATAATATATA TATATA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0309 a0001c0001t0003g0309	1	321	0.0031	105	c.34+ others(122): Show c.34+12713_34+12714insTATATATATATATTATATATATATTATA TATATATTATATATATATATTATATATATATTATATATATATATTATATA TATATATTATATATATATTATATATAT	CYTH3	ENSG00000008256.17	transcript	ENST00000350796.8	protein_coding	1/12			chr7	TogoVar
DAGLB_chr7_6404129_6452954	6421307	T T	TCAGCGCG others(98): Show TCAGCGCGGGAAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGG CGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGG GAGGCG	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA19002.hp1 HG02818.hp2 NA19002.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0027 a0001c0004t0002g0193 a0001c0004t0002g0027 a0001c0004t0002g0193	2	118	0.0169	105	c.121 others(122): Show c.1218+419_1218+420insCGCCTCCCGCGCTGCCTGCGCCTCCCGC GCTGCCTGCGCCTCCCGCGCTGCCTGCGCCTCCCGCGCTGCCTGCGCCTC CCGCGCTGCCTGCGCCTTCCCGCGCTG	DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding	9/14			chr7	TogoVar
DCUN1D3_chr16_20849925_20905358	20872521	T T	TTTTTCCC others(98): Show TTTTTCCCCACGATGGAGGTTGACTGCTAATGCATAGCAGACAGGAAGAG GAAGAGGGACAGAAAAGATCCATACAATAAAAGAATTCCTGCTTTCAACC ACATCA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02148.hp2 HG01952.hp1 HG02148.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0095 a0001c0002t0010g0096 a0001c0002t0010g0095 a0001c0002t0010g0096	2	376	0.0053	105	c.-10 others(124): Show c.-105-9879_-105-9878insTGATGTGGTTGAAAGCAGGAATTCTT TTATTGTATGGATCTTTTCTGTCCCTCTTCCTCTTCCTGTCTGCTATGCA TTAGCAGTCAACCTCCATCGTGGGGAAAA	DCUN1D3	ENSG00000188215.10	transcript	ENST00000324344.9	protein_coding	1/2			chr16	TogoVar
DDX51_chr12_132131594_132149319	132134967	T T	TCCCGAGT others(98): Show TCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCA CGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCC CACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0016 a0007c0011t0001g0016	1	310	0.0032	105	c.43 others(116): Show c.4304_*4305insGAGGTGGGAGGAGCGGGCACCGGGGCACACTCGG GAGGTGGGAGGAGCGGGCACCGTGGGCACACTCGGGGAGGTGGGAGGAGC GGGCACCGGGGCACACTCGGG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1626		chr12	TogoVar
DDX51_chr12_132131594_132149319	132135003	C C	CCCGAGTG others(98): Show CCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCG GTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTACCTC CCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	281	0.0036	105	c.42 others(116): Show c.4268_*4269insAGGTGGGAGGTAGCGGGCACCGTGGGCACACTCG GGGAGGTGGGAGGAGCGGGCACCGGGGCACACTCGGGAGGTGGGAGGAGC GGGCACCGTGGGCACACTCGG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1590		chr12	TogoVar
DEAF1_chr11_639233_700222	647954	G G	GAGCAGGT others(98): Show GAGCAGGTGGGTGGACTTGACCCAGGCGGTGCTGGGAGCAGGTGGGTGGA CTTGACCCAGGCGGTGCTGGGAGCAGGTGGGTGGACTTGACCCAGGCGGT GCTGGC	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	340	0.0029	105	c.159 others(124): Show c.1594-3301_1594-3300insGCCAGCACCGCCTGGGTCAAGTCCAC CCACCTGCTCCCAGCACCGCCTGGGTCAAGTCCACCCACCTGCTCCCAGC ACCGCCTGGGTCAAGTCCACCCACCTGCT	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	11/11			chr11	TogoVar
DEAF1_chr11_639233_700222	690266	C C	CAGGAGAG others(98): Show CAGGAGAGGGGAGGGCAGGGGAGGGCAGGGGAGGGGAGGGGAAGGCAGGG CAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGCAGGGGAGGGCAGGG GAGGGG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01243.hp1 HG01433.hp1 others(18): Show HG00280.hp2 HG01243.hp1 HG01433.hp1 HG02109.hp1 HG02145.hp2 HG02451.hp2 HG02523.hp1 HG02559.hp2 HG02615.hp2 HG03098.hp1 HG03130.hp2 HG03471.hp2 HG04115.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp2 NA19030.hp1 NA19070.hp2 NA19084.hp1 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0012 a0001c0002 a0004c0012	a0001c0002t0001 a0004c0012t0001 a0001c0002t0001 a0004c0012t0001	a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0204 others(18): Show a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0340 a0001c0002t0001g0341 a0004c0012t0001g0271	21	105	0.2000	105	c.387 others(122): Show c.387+1234_387+1235insCCCCTCCCCTGCCCTCCCCTGCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTGCCCTGCCTTCCCCTCCCCTCCC CTGCCCTCCCCTGCCCTCCCCTCTCCT	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	2/11			chr11	TogoVar
DEAF1_chr11_639233_700222	690306	G G	GAAGGCAG others(98): Show GAAGGCAGGGCAGGGGAGGGGAGGGGAGGGGAGGGGAGGGCAGGGGAGGG CAGGGGAGGGGAGGGCAGGGGAGGGCAGGGGAGGGCAGGGGAGGGCAGGG GAGGGC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0265 a0002c0005t0001g0265	1	120	0.0083	105	c.387 others(122): Show c.387+1194_387+1195insGCCCTCCCCTGCCCTCCCCTGCCCTCCC CTGCCCTCCCCTGCCCTCCCCTCCCCTGCCCTCCCCTGCCCTCCCCTCCC CTCCCCTCCCCTCCCCTGCCCTGCCTT	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	2/11			chr11	TogoVar
DEAF1_chr11_639233_700222	690331	G G	GAGGGGAG others(98): Show GAGGGGAGGGGAGGGCAGGGCAGGGGAGGGGAGGGGAGGGGAGGGCAGGG CAGGGGAGGGCAGGGGAGGGCAGGGGAGGGGAGGGCAGGGGAGGGCAGGG GAGGGC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	163	0.0061	105	c.387 others(122): Show c.387+1169_387+1170insGCCCTCCCCTGCCCTCCCCTGCCCTCCC CTCCCCTGCCCTCCCCTGCCCTCCCCTGCCCTGCCCTCCCCTCCCCTCCC CTCCCCTGCCCTGCCCTCCCCTCCCCT	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	2/11			chr11	TogoVar
DEAF1_chr11_639233_700222	690346	G G	GAGGGGAG others(98): Show GAGGGGAGGGCAGGGGAGGGCAGGGGAGGGGAGGGCAGGGGAGGGCAGGG GAGGGCAGGGGAGGGCAGGGGAGGGGAGGGCAGGGGAGGGCAGGGGAGGG GAGGGC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01257.hp2 HG01433.hp2 HG01123.hp1 HG01257.hp2 HG01433.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0211 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0211 a0001c0002t0001g0213 a0001c0002t0001g0214	3	270	0.0111	105	c.387 others(122): Show c.387+1154_387+1155insGCCCTCCCCTCCCCTGCCCTCCCCTGCC CTCCCCTCCCCTGCCCTCCCCTGCCCTCCCCTGCCCTCCCCTGCCCTCCC CTCCCCTGCCCTCCCCTGCCCTCCCCT	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	2/11			chr11	TogoVar
DEF8_chr16_89943755_89973060	89948850	G G	GGGGACGG others(98): Show GGGGACGGGGCCGGCGGGGACGGGGCCGGCGGGGACGGGGTCGGCGGGGT CGGGGCTGGGAGGGACGGGGCCGGCGGGGACGGGGTCGGCGGGGACGGGG CTGGGA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	382	0.0026	105	c.-10 others(121): Show c.-108+76_-108+180dupTCGGCGGGGTCGGGGCTGGGAGGGACGGG GCCGGCGGGGACGGGGTCGGCGGGGACGGGGCTGGGAGGGACGGGGCCGG CGGGGACGGGGCCGGCGGGGACGGGG	DEF8	ENSG00000140995.17	transcript	ENST00000563594.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
DEF8_chr16_89943755_89973060	89948944	A A	ACGGGGCT others(98): Show ACGGGGCTGGGAGGGACGGGGCCGGCGGGGACGGGGCCGGCGGGGACGGG GCCGGCGGGGTCGGGGCTGGGAGGGACGGGGCCGGCGGGGACGGGGTCGG CGGGGT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02148.hp2 HG02293.hp1 others(1): Show HG01928.hp2 HG02148.hp2 HG02293.hp1 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0031 a0001c0001t0001g0094 a0001c0001t0001g0002 a0001c0001t0001g0031 a0001c0001t0001g0094	4	324	0.0123	105	c.-10 others(122): Show c.-108+187_-108+291dupGGGTCGGGGCTGGGAGGGACGGGGCCGG CGGGGACGGGGTCGGCGGGGTCGGGGCTGGGAGGGACGGGGCCGGCGGGG ACGGGGCCGGCGGGGACGGGGCCGGCG	DEF8	ENSG00000140995.17	transcript	ENST00000563594.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
DENND6A_chr3_57620454_57698077	57644752	A A	AGGGGAGG others(98): Show AGGGGAGGGGAGGGGTGGGGAGGGGAGGGGAGGGGTGGGGAGGGGAGGGG AGGGGTGGGGAGGGGAGGGGTGGGGAGGGGAGGGGAGGGGTGGGGAGGGG AGGGGT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0294 a0001c0001t0001g0294	1	221	0.0045	105	c.103 others(122): Show c.1037+908_1037+909insACCCCTCCCCTCCCCACCCCTCCCCTCC CCTCCCCACCCCTCCCCTCCCCACCCCTCCCCTCCCCTCCCCACCCCTCC CCTCCCCTCCCCACCCCTCCCCTCCCC	DENND6A	ENSG00000174839.13	transcript	ENST00000311128.10	protein_coding	11/19			chr3	TogoVar
DIP2C_chr10_269201_694668	372700	C C	CGGGCACA others(98): Show CGGGCACAGAAGCACGGGTGCTCCCGACACACAGGTGGGCACAGAAGCGC GGGAGCTCTCGACACACAGGCGGCTACAGAAGCGTGGGAGCTCCCGACAC ACAGGT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0009 a0001c0016t0009	a0001c0016t0009g0073 a0001c0016t0009g0073	1	88	0.0114	105	c.199 others(124): Show c.1992-3068_1992-3067insACCTGTGTGTCGGGAGCTCCCACGCT TCTGTAGCCGCCTGTGTGTCGAGAGCTCCCGCGCTTCTGTGCCCACCTGT GTGTCGGGAGCACCCGTGCTTCTGTGCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	17/36			chr10	TogoVar
DIP2C_chr10_269201_694668	414735	G G	GTATATAT others(98): Show GTATATATATATATATATATATATATATATATAATGTGTATATATATATA TATATATATATATAATGTGTATATATATATATATATATATATATAATGTG TATATA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0076 a0001c0007t0002g0076	1	85	0.0118	105	c.860 others(120): Show c.860-626_860-625insTATATACACATTATATATATATATATATAT ATATATACACATTATATATATATATATATATATATATACACATTATATAT ATATATATATATATATATATATATA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	7/36			chr10	TogoVar
DIP2C_chr10_269201_694668	478206	A A	AGGGAGGG others(98): Show AGGGAGGGGAGGGGAGGAGAAGGGAGGGGAGGGGAGGAGAAGGGAGGGGA GGGGAGGAGAAGGGAGGAGAAGGGAGGGGAGGGGAGGAGAGGGGAGAAGA GGGGAG	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0070 a0001c0003t0002g0070	1	65	0.0154	105	c.158 others(122): Show c.158-5658_158-5657insCTCCCCTCTTCTCCCCTCTCCTCCCCTC CCCTCCCTTCTCCTCCCTTCTCCTCCCCTCCCCTCCCTTCTCCTCCCCTC CCCTCCCTTCTCCTCCCCTCCCCTCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DIP2C_chr10_269201_694668	478238	G G	GGAGGGGA others(98): Show GGAGGGGAGGGGAGGGGAGGGGAGGGGAGAAGAGGGGAGAAGAAGGGAGG GGAGGGGAGGGGAGAAGAGGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGG GGAGAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0086 a0001c0004t0001g0086	1	84	0.0119	105	c.158 others(122): Show c.158-5690_158-5689insTTCTCCCCTCCCCTCCCCTCCCTTCTTC TCCCCTCCCCTCTTCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTCTTC TCCCCTCCCCTCCCCTCCCCTCCCCTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DLEC1_chr3_38034208_38129025	38084485	A A	AGTGGTGG others(98): Show AGTGGTGGTAGTAGTAGTAGTGGTAGTAGTAGTAGTGGTGGTGGTAGTAG TGGTGGTAGTAGTAGTAGTGGTGGTGGTGGTGGTGGTAGTAGTAATAGTA GTGGTG	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0046 a0002c0001t0001g0046	1	291	0.0034	105	c.126 others(122): Show c.1261+257_1261+258insAGTGGTAGTAGTAGTAGTGGTGGTGGTA GTAGTGGTGGTAGTAGTAGTAGTGGTGGTGGTGGTGGTGGTAGTAGTAAT AGTAGTGGTGGTGGTGGTAGTAGTAGT	DLEC1	ENSG00000008226.20	transcript	ENST00000308059.11	protein_coding	7/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
DLGAP2_chr8_732628_1713476	1374034	G G	GGGCTGTG others(98): Show GGGCTGTGTGGTGGAGGTTAGGTTAGGTTTGCAGACGGCTGTGTGGTGGA GGTTAGGTTAGGTTTACAGAAGGCTGTGTGGTGGAGGTTAGGTTAGGTTT GCAGAC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0007 a0001c0003t0013g0007	1	40	0.0250	105	c.106 others(126): Show c.106+115215_106+115216insACAGAAGGCTGTGTGGTGGAGGTT AGGTTAGGTTTGCAGACGGCTGTGTGGTGGAGGTTAGGTTAGGTTTGCAG ACGGCTGTGTGGTGGAGGTTAGGTTAGGTTT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMXL1_chr5_119066087_119254127	119123370	A A	AGAGGGAG others(98): Show AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGG GAGAGGAGGGGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GAGGGG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0007 a0010c0010t0007	a0010c0010t0007g0002 a0010c0010t0007g0003 a0010c0010t0007g0002 a0010c0010t0007g0003	2	218	0.0092	105	c.110 others(124): Show c.1102+2241_1102+2242insAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGGAGAGGAGGGAGAGGAGGGGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGAGGGGGAGGGAGAGG	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	9/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DOC2B_chr17_137789_186650	139304	C C	CCCCACAG others(98): Show CCCCACAGAGGGGCACACAAGTGGGGACATCAGGAACACAGGGCCACAGC CACACACACAGACCCACACACAGAGGATCCCACTCAAGGAGCACACGTGC GAAAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0235 a0001c0002t0002g0235	1	338	0.0030	105	c.81 others(116): Show c.8136_*8137insACTTTCGCACGTGTGCTCCTTGAGTGGGATCCTC TGTGTGTGGGTCTGTGTGTGTGGCTGTGGCCCTGTGTTCCTGATGTCCCC ACTTGTGTGCCCCTCTGTGGG	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding		3484		chr17	TogoVar
DOCK1_chr10_126900428_127457516	126947340	T T	TTGGTGAT others(98): Show TTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGG TGGTTGGTAGTATTACTGTTGTTGGTGATGGTGGTGGTTGGTAGTATTAC TGTTGG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0127 a0001c0015t0001g0127	1	112	0.0089	105	c.47- others(122): Show c.47-23323_47-23322insGTGGTGGTGGTGGTTGGTAGTATTACTG TTGTTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGG TGGTTGGTAGTATTACTGTTGGTGGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126947380	A A	ATGGTGGT others(98): Show ATGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTA GTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGG TGGTGG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0050 a0001c0001t0003g0050	1	125	0.0080	105	c.47- others(122): Show c.47-23281_47-23280insAGTTGGTAGTATTACTGTTGGTGGTGAT GGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTAGTTGGT AGTATTACTGTTGGTGGTGATGGTGGT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar

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