Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
B4GALNT4_chr11_364499_387117	374880	G G	GAGGGAGG others(248): Show GAGGGAGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGG GAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGAGGA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03579.hp2 HG02723.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0051 a0002c0002t0001g0053 a0002c0002t0001g0051 a0002c0002t0001g0053	2	184	0.0109	255	c.784 others(270): Show c.784-574_784-573insAGGGAGGGAGGGAGGAGGAAGGGAGGGAGG TGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAG GGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGAGGAAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	375001	G G	GAGGGAGG others(248): Show GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGGTGGAAGGGAGGGAGGGAGGTGGAAGGGAGGGAGGAGG AAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG AGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGAGGA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0001 a0013c0015t0001	a0013c0015t0001g0055 a0013c0015t0001g0055	1	184	0.0054	255	c.784 others(270): Show c.784-453_784-452insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGGAGGTGGAAG GGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGAGGAAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	375020	G G	GAGGGAGG others(248): Show GAGGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAAGGGAGGGAG GAGGAAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGG GAGGAGGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGA GGAGGAAGGGAGGGAGGGAGGAGGGAGGGGAGGGAGGAGGAAGGGAGGGA GGAGGA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0131 a0005c0009t0001g0131	1	184	0.0054	255	c.784 others(270): Show c.784-434_784-433insAAGGGAGGGAGGGAGGAGGAAGGGAGGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAGG AAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGGAGGGGAGGGAGGA GGAAGGGAGGGAGGAGGAAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	375020	G G	GAGGGAGG others(248): Show GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGG AAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGTGGA	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	184	0.0054	255	c.784 others(270): Show c.784-434_784-433insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAG GGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGTGGAAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BCL11A_chr2_60452194_60558654	60467318	G G	GTGGTGAT others(248): Show GTGGTGATGATGGTGATGGTACTGGTGGTGATGGTGATGGTGGTGGTGGT GGTGATGGTGGTGATGGTACTGGTGGTGATGGTACTGGTGGTGATGGTGG TGGTGGTGATGGTGATGGTGGTGGTGGTGGTGATGCTACTGGTGGTGATG GTACTGGTGGTGATGGTGGTGGTGGTAGTGATGGTGGTGGTAATGGTGGT GGTGGTGGTGGTGGTGGTGGTAGTGATGGTGGTGGTGGTGATGGTACTGG TGGTGA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02738.hp1 HG03831.hp2 HG02080.hp2 HG02738.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0048 a0001c0001t0003 a0001c0001t0012 a0001c0001t0048	a0001c0001t0003g0181 a0001c0001t0012g0218 a0001c0001t0048g0148 a0001c0001t0003g0181 a0001c0001t0012g0218 a0001c0001t0048g0148	3	262	0.0115	255	c.487 others(272): Show c.487+1413_487+1414insTCACCACCAGTACCATCACCACCACCAC CATCACTACCACCACCACCACCACCACCACCACCATTACCACCACCATCA CTACCACCACCACCATCACCACCAGTACCATCACCACCAGTAGCATCACC ACCACCACCACCATCACCATCACCACCACCACCATCACCACCAGTACCAT CACCACCAGTACCATCACCACCATCACCACCACCACCACCATCACCATCA CCACCAGTACCATCACCATCATCACCA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BTAF1_chr10_91918770_92036437	92012181	C C	CTCCCCTC others(248): Show CTCCCCTCCTCCCCTCCCCTCCTCTCCCCTCCTCCCCTCCCCCTCCTCTC CTCTCCTCCCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCTCCCCT TCCCCT	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	330	0.0030	255	c.431 others(272): Show c.4311+766_4311+767insTCCCCTCCTCCCCTCCCCTCCTCTCCCC TCCTCCCCTCCCCCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCCCCTCC TCCCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCCTCCCCTCCTCCCCT CCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCCCTCCCTCCCCTTCCCCT	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37			chr10	TogoVar
CABLES2_chr20_62383634_62412285	62397926	G G	GTGGTGGT others(248): Show GTGGTGGTGATGGCGGTGGTGGTGATGGTGGTGACGGTGGTGATGGCGGT GATGGTGATGATGGTGATGGTTATGGCGGTGGTGGTGGTGGTGACAGTGA TGGTGATGGTGGTGATGGCGATGGTGGTGGTGACGGTGGTGGTGACGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGATGGCGGTGGTGGTGATGATGGT GATGGTTATGGCGGTGGTGGTGGTGGTGACAGTGATGGTGATGGTGGTGA TGGCGA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0179 a0001c0001t0003g0179	1	400	0.0025	255	c.363 others(272): Show c.363-1335_363-1334insTCGCCATCACCACCATCACCATCACTGT CACCACCACCACCACCGCCATAACCATCACCATCATCACCACCACCGCCA TCACCACCACCACCACCACCACCACCACCACCGTCACCACCACCGTCACC ACCACCATCGCCATCACCACCATCACCATCACTGTCACCACCACCACCAC CGCCATAACCATCACCATCATCACCATCACCGCCATCACCACCGTCACCA CCATCACCACCACCGCCATCACCACCA	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CACNA1C_chr12_2047987_2702950	2520147	A A	ACCAATGG others(248): Show ACCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCGTGACAGTCTTCTCATT GACCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCAT TGACCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCGTGACAGTCTTCTCA TTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCGTGACAGTCTTCTC ATTGACCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCT CATTGC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0007 a0001c0025t0007	a0001c0025t0007g0012 a0001c0025t0007g0012	1	104	0.0096	255	c.139 others(274): Show c.1390+7195_1390+7196insGTGACAGTCTTCTCATTGACCAATGG CCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGACCAATG GCCGTGTGCTTCAGAGGAGGGAAGCCGTGACAGTCTTCTCATTGCCCAAT GGCCGTGTGCTTCAGAGGAGGGAAGCCGTGACAGTCTTCTCATTGACCAA TGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCA ATGGCCGTGTGCTTCAGAGGAGGGAAGCC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2520147	A A	ACCAATGG others(248): Show ACCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCGTGACAGTCTTCTCATT GACCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCGTGACAGTCTTCTCAT TGACCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCA TTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTC ATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCT CATTGC	intron_variant intron_variant	MODIFIER	HG02683.hp1 NA19030.hp2 HG02683.hp1 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0020 a0001c0002 a0001c0020	a0001c0002t0001 a0001c0020t0002 a0001c0002t0001 a0001c0020t0002	a0001c0002t0001g0091 a0001c0020t0002g0010 a0001c0002t0001g0091 a0001c0020t0002g0010	2	104	0.0192	255	c.139 others(274): Show c.1390+7195_1390+7196insGTGACAGTCTTCTCATTGACCAATGG CCGTGTGCTTCAGAGGAGGGAAGCCGTGACAGTCTTCTCATTGACCAATG GCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAAT GGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAA TGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCA ATGGCCGTGTGCTTCAGAGGAGGGAAGCC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2520198	A A	ACCAATGG others(248): Show ACCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATT GACCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCAT TGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCA TTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTC ATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCT CATTGC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02257.hp2 HG02451.hp1 others(9): Show HG01106.hp2 HG02257.hp2 HG02451.hp1 HG02523.hp2 HG02809.hp2 HG02922.hp2 HG02965.hp1 HG03041.hp1 HG03098.hp2 HG03516.hp1 HG03540.hp2 NA18906.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0003 a0001c0004 others(7): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0026 a0001c0033 a0001c0037 a0002c0013 a0006c0028	a0001c0001t0001 a0001c0001t0045 a0001c0003t0044 others(9): Show a0001c0001t0001 a0001c0001t0045 a0001c0003t0044 a0001c0004t0004 a0001c0005t0002 a0001c0005t0026 a0001c0007t0006 a0001c0026t0003 a0001c0033t0020 a0001c0037t0006 a0002c0013t0035 a0006c0028t0006	a0001c0001t0001g0029 a0001c0001t0045g0052 a0001c0003t0044g0053 others(9): Show a0001c0001t0001g0029 a0001c0001t0045g0052 a0001c0003t0044g0053 a0001c0004t0004g0086 a0001c0005t0002g0098 a0001c0005t0026g0079 a0001c0007t0006g0074 a0001c0026t0003g0066 a0001c0033t0020g0070 a0001c0037t0006g0025 a0002c0013t0035g0035 a0006c0028t0006g0072	12	104	0.1154	255	c.139 others(274): Show c.1390+7264_1390+7265insACCAATGGCCGTGTGCTTCAGAGGAG GGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGA GGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGG AGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAG GAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGA GGAGGGAAGCCATGACAGTCTTCTCATTG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2520208	G G	GTGTGCTT others(248): Show GTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGACCAATGGC CGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGG CCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATG GCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAAT GGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAA TGGCCA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0063 a0001c0001t0003g0063	1	104	0.0096	255	c.139 others(274): Show c.1390+7264_1390+7265insACCAATGGCCGTGTGCTTCAGAGGAG GGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGA GGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGG AGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAG GAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCATGTGCTTCAGA GGAGGGAAGCCATGACAGTCTTCTCATTG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2520208	G G	GTGTGCTT others(248): Show GTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGACCAATGGC CGTGTGCTTCAGAGGAGGGAAGCCGTGACAGTCTTCTCATTGCCCAATGG CCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGACCAATG GCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAAT GGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAA TGGCCA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0032 a0001c0001t0043g0032	1	104	0.0096	255	c.139 others(274): Show c.1390+7264_1390+7265insACCAATGGCCGTGTGCTTCAGAGGAG GGAAGCCGTGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGA GGGAAGCCATGACAGTCTTCTCATTGACCAATGGCCGTGTGCTTCAGAGG AGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAG GAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCATGTGCTTCAGA GGAGGGAAGCCATGACAGTCTTCTCATTG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2520259	G G	GTGTGCTT others(248): Show GTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGC CGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGG CCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATG GCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAAT GGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAA TGGCCA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0089 a0001c0005t0010g0089	1	104	0.0096	255	c.139 others(274): Show c.1390+7469_1390+7470insCCAATGGCCGTGTGCTTCAGAGGAGG GAAGCCATGACAGTCTTCTCATTGCCCAATGGCCATGTGCTTCAGAGGAG GGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGA GGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGG AGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAG GAGGGAAGCCATGACAGTCTTCTCATTGC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2520810	C C	CCCAATGG others(248): Show CCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATT GCCCAATGGCCGTGTGCTTCATAGGAGGGAAGCCATGACAGTCTTCTCAT TGACCAATGGCCGTGTGCTTCATAGGAGGGAAGCCATGACAGTCTTCTCA TTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTC ATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCT CATTGA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0003 a0001c0024t0003	a0001c0024t0003g0067 a0001c0024t0003g0067	1	104	0.0096	255	c.139 others(274): Show c.1390+7876_1390+7877insCCCAATGGCCGTGTGCTTCATAGGAG GGAAGCCATGACAGTCTTCTCATTGACCAATGGCCGTGTGCTTCATAGGA GGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGG AGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAG GAGGGAAGCCATGACAGTCTTCTCATTGACCAATGGCCGTGTGCTTCAGA GGAGGGAAGCCATGACAGTCTTCTCATTG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2572412	C C	CTCCTCCT others(248): Show CTCCTCCTTCTCCTCCTCTCCTCCTCCTTCTCCTCCTCCTGTTCCTCCTC CTCCTTTCCTCCTCCTCCTGTTCCTCCTCCTCCTCTCCTCCTCCTCCTCT CCTCCTCCTTCTCCTCTTCCTCCTCCTCCTCTCCTCCTCCTCCTCCTCCT TTTCCTCCTCCTTCTCCTCTCCTCCTCCTTCTCCTCTCCCTCCTCCTCCT CTCCTCCTCCTTCTCCTCTTCCTCCTCCTCTCTTCCTCCTCTTCCTCCTC CTTCTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0003 a0001c0024t0003	a0001c0024t0003g0067 a0001c0024t0003g0067	1	104	0.0096	255	c.189 others(274): Show c.1895+4618_1895+4619insTCCTCCTTCTCCTCCTCTCCTCCTCC TTCTCCTCCTCCTGTTCCTCCTCCTCCTTTCCTCCTCCTCCTGTTCCTCC TCCTCCTCTCCTCCTCCTCCTCTCCTCCTCCTTCTCCTCTTCCTCCTCCT CCTCTCCTCCTCCTCCTCCTCCTTTTCCTCCTCCTTCTCCTCTCCTCCTC CTTCTCCTCTCCCTCCTCCTCCTCTCCTCCTCCTTCTCCTCTTCCTCCTC CTCTCTTCCTCCTCTTCCTCCTCCTTCTT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	13/46			chr12	TogoVar
CACNG6_chr19_53986637_54017666	53990651	C C	CCCTCCTC others(248): Show CCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCTCAGCCCCTCCTCCTTCA GACCCAGGAGTTCAGGCCCCAGTCCCTCCTCCCTCAGACCCAGAAGTCCA GGCCCCAGTCCCTCCTCCCTCAGACTCAGGAGCCCAGGCCCCCAGCCCCT CCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACC CAGGAGCCCAGGCCCCAGCCCCTCCACCTTCAGACCCAGGAGTCCAGGCC CCAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0043 a0003c0009t0043	a0003c0009t0043g0410 a0003c0009t0043g0410	1	430	0.0023	255	c.-22 others(266): Show c.-2227_-2226insCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCTCA GCCCCTCCTCCTTCAGACCCAGGAGTTCAGGCCCCAGTCCCTCCTCCCTC AGACCCAGAAGTCCAGGCCCCAGTCCCTCCTCCCTCAGACTCAGGAGCCC AGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCC CTCCTCCCTCAGACCCAGGAGCCCAGGCCCCAGCCCCTCCACCTTCAGAC CCAGGAGTCCAGGCCCCAGCA	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding		985		chr19	TogoVar
CACNG8_chr19_53957937_53995215	53990651	C C	CCCTCCTC others(248): Show CCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCTCAGCCCCTCCTCCTTCA GACCCAGGAGTTCAGGCCCCAGTCCCTCCTCCCTCAGACCCAGAAGTCCA GGCCCCAGTCCCTCCTCCCTCAGACTCAGGAGCCCAGGCCCCCAGCCCCT CCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACC CAGGAGCCCAGGCCCCAGCCCCTCCACCTTCAGACCCAGGAGTCCAGGCC CCAGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02809.hp1 HG02257.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0103 a0001c0001t0118 a0001c0001t0103 a0001c0001t0118	a0001c0001t0103g0116 a0001c0001t0118g0055 a0001c0001t0103g0116 a0001c0001t0118g0055	2	394	0.0051	255	c.78 others(266): Show c.7802_*7803insCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCTCA GCCCCTCCTCCTTCAGACCCAGGAGTTCAGGCCCCAGTCCCTCCTCCCTC AGACCCAGAAGTCCAGGCCCCAGTCCCTCCTCCCTCAGACTCAGGAGCCC AGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCC CTCCTCCCTCAGACCCAGGAGCCCAGGCCCCAGCCCCTCCACCTTCAGAC CCAGGAGTCCAGGCCCCAGCA	CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding		437		chr19	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(248): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGA AGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGGAGAGGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGG AGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAG	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0276 a0002c0004t0004g0276	1	364	0.0028	255	c.234 others(272): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCT CTCCCTCTCCCTCTCCCTCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCC CTTCCCCTTCCCCTTCCCCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CCDC187_chr9_136244973_136309094	136251862	G G	GGTCCACC others(248): Show GGTCCACCCCGGGAAGGTCCAGGCGACCGTCCCGCGGAGCCGGCCGCCCA CCTGGTCCACCCTGGGAAGAGCCGGCCGCCCACCCAGTCCACCCCGGGAA GGTCCAGGCGACCGTCCCGCGGAGCCGGCCGCCCACCTGGTCCACCCTGG GAAGAGCCGGCCGCCCACCCAGTCCACCCCGGGAAGGTCCAGGCGACCGT CCCGCGGAGCCGGCCGCCCACCTGGTCCACCCTGGGAAGAGCCGGCCGCC CACCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG02738.hp2 others(2): Show HG01516.hp1 HG01517.hp1 HG02738.hp2 HG03239.hp2 NA20129.hp1	a0054 a0111 a0148 others(1): Show a0054 a0111 a0148 a0163	a0054c0033 a0111c0070 a0148c0125 others(1): Show a0054c0033 a0111c0070 a0148c0125 a0163c0111	a0054c0033t0014 a0111c0070t0014 a0148c0125t0054 others(1): Show a0054c0033t0014 a0111c0070t0014 a0148c0125t0054 a0163c0111t0014	a0054c0033t0014g0198 a0054c0033t0014g0199 a0111c0070t0014g0049 others(2): Show a0054c0033t0014g0198 a0054c0033t0014g0199 a0111c0070t0014g0049 a0148c0125t0054g0096 a0163c0111t0014g0202	5	400	0.0125	255	c.17 others(266): Show c.1731_*1732insTGGGTGGGCGGCCGGCTCTTCCCAGGGTGGACCA GGTGGGCGGCCGGCTCCGCGGGACGGTCGCCTGGACCTTCCCGGGGTGGA CTGGGTGGGCGGCCGGCTCTTCCCAGGGTGGACCAGGTGGGCGGCCGGCT CCGCGGGACGGTCGCCTGGACCTTCCCGGGGTGGACTGGGTGGGCGGCCG GCTCTTCCCAGGGTGGACCAGGTGGGCGGCCGGCTCCGCGGGACGGTCGC CTGGACCTTCCCGGGGTGGAC	CCDC187	ENSG00000260220.7	transcript	ENST00000638797.2	protein_coding	26/26	1731		chr9	TogoVar
CCDC85C_chr14_99495190_99609207	99578111	T T	TGTGTGTG others(248): Show TGTGTGTGTGTGTGTGTGTGTACACATCTCTACACCCATACAGCCCATCC TGTATCCATCGGTGTGTTTGTGTGTGTGAGTGTACACCTCTCCACGCCCA TACAGCCCATCCTATATCCCCCATCAGTGTGTGTGTGTTTGTGTGTGTGT ACACATCTCCACACCCATACAGCCCGTCCTGTATCCCCCATCAGTGTGTG TGTGTGTGTGTGTACACATCTCCACACCCATACAGCCCGTCCTGTATCCC CCATCA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0035 a0002c0006t0035	a0002c0006t0035g0222 a0002c0006t0035g0222	1	300	0.0033	255	c.793 others(274): Show c.793+25055_793+25056insTGATGGGGGATACAGGACGGGCTGTA TGGGTGTGGAGATGTGTACACACACACACACACACACTGATGGGGGATAC AGGACGGGCTGTATGGGTGTGGAGATGTGTACACACACACAAACACACAC ACACTGATGGGGGATATAGGATGGGCTGTATGGGCGTGGAGAGGTGTACA CTCACACACACAAACACACCGATGGATACAGGATGGGCTGTATGGGTGTA GAGATGTGTACACACACACACACACACAC	CCDC85C	ENSG00000205476.9	transcript	ENST00000380243.9	protein_coding	1/5			chr14	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(248): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCC TCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTC CCCTCT	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	256	0.0039	255	c.-45 others(276): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCTTCCCCTCCTCT CCCCTCCCCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CENPJ_chr13_24877279_24927861	24881964	A A	ATATAGAT others(248): Show ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0170 a0001c0002t0001g0170	1	440	0.0023	255	c.12 others(266): Show c.1212_*1213insGATGTATCTATATATAGATGTATCTATATATAGA TGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATG TATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGAT GTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGT ATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTAT CTATATATAGATGTATCTATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		314		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24881964	A A	ATATAGAT others(248): Show ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0158 a0009c0012t0001g0158	1	440	0.0023	255	c.12 others(266): Show c.1212_*1213insGATGTATCTATATATAGATGTATCTATATATAGA TGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATG TATCTATATATAGATGTATCTATATATAGATGATGTATCTATATATAGAT GTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGT ATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTAT CTATATATAGATGTATCTATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		314		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24882090	A A	ATATAGAT others(248): Show ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTAGATATATAGATACATCATCTA TATAGATATATAGATACATCTATATAGATATATAGATACATCTATATAGA TATATAATCTATATAGATACATCTATATAGATATATAATCTATATAGCTA TATAGATACATCTATATAGCTATATAGATACATCTATATAGCTATATAGA TACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 NA19002.hp1 HG00558.hp2 NA19002.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0127 a0002c0003t0003g0128 a0002c0003t0003g0127 a0002c0003t0003g0128	2	440	0.0046	255	c.10 others(266): Show c.1086_*1087insGATGTATCTATATAGCTATATAGATGTATCTATA TAGCTATATAGATGTATCTATATAGCTATATAGATTATATATCTATATAG ATGTATCTATATAGATTATATATCTATATAGATGTATCTATATATCTATA TAGATGTATCTATATATCTATATAGATGATGTATCTATATATCTAGATGT ATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTAT CTATATATAGATGTATCTATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		188		chr13	TogoVar
CFAP46_chr10_132803392_132947570	132887600	T T	TTCTCTCT others(248): Show TTCTCTCTCCTCTCCTCTCTCCTCTTCTCTCCTCTCCCTTCTTCTCTCTC CTCTCCTCTCTCCTCTTTCACCTCTCTCTCTCCTCTCCTCTCTCTCTCCT CTCCTCTCTCTCTCCGCTCCTCTCTCTCTCCTCTCCCCTCTTCTCTCTCT CCTCTCCCCTCTTCTCTCCTCTCCCTTCTTCTCTCTCCTCTCCTCTCCCC TCTTCTCTCCTCTCCCCTCTTCTCTCCTCTCCCCTCTTCTCTCCTCTCCC TTCTTC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0032 a0032	a0032c0063 a0032c0063	a0032c0063t0001 a0032c0063t0001	a0032c0063t0001g0213 a0032c0063t0001g0213	1	246	0.0041	255	c.330 others(274): Show c.3305-1642_3305-1641insGAAGAAGGGAGAGGAGAGAAGAGGGG AGAGGAGAGAAGAGGGGAGAGGAGAGAAGAGGGGAGAGGAGAGGAGAGAG AAGAAGGGAGAGGAGAGAAGAGGGGAGAGGAGAGAGAGAAGAGGGGAGAG GAGAGAGAGAGGAGCGGAGAGAGAGAGGAGAGGAGAGAGAGAGGAGAGGA GAGAGAGAGGTGAAAGAGGAGAGAGGAGAGGAGAGAGAAGAAGGGAGAGG AGAGAAGAGGAGAGAGGAGAGGAGAGAGA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFAP61_chr20_20047532_20365698	20357116	A A	AGGGGAGA others(248): Show AGGGGAGATGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTG GTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGA GGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGG TCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGATGGTCACACTGAG GGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGT CACAGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00408.hp2 others(24): Show HG00099.hp2 HG00140.hp1 HG00408.hp2 HG00423.hp1 HG00558.hp1 HG01074.hp2 HG01168.hp2 HG01169.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01943.hp2 HG01978.hp1 HG02071.hp2 HG02135.hp2 HG02293.hp1 HG02683.hp1 HG04228.hp2 NA18969.hp2 NA19007.hp1 NA19081.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0010 a0015 a0020	a0001c0001 a0001c0007 a0001c0015 others(7): Show a0001c0001 a0001c0007 a0001c0015 a0001c0045 a0002c0002 a0002c0004 a0003c0005 a0010c0016 a0015c0047 a0020c0040	a0001c0001t0002 a0001c0001t0006 a0001c0007t0002 others(8): Show a0001c0001t0002 a0001c0001t0006 a0001c0007t0002 a0001c0015t0002 a0001c0045t0002 a0002c0002t0002 a0002c0004t0002 a0003c0005t0002 a0010c0016t0002 a0015c0047t0002 a0020c0040t0002	a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0042 others(24): Show a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0042 a0001c0001t0002g0050 a0001c0001t0002g0091 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0158 a0001c0001t0002g0180 a0001c0001t0002g0188 a0001c0001t0002g0192 a0001c0001t0002g0194 a0001c0001t0002g0200 a0001c0001t0006g0019 a0001c0007t0002g0084 a0001c0015t0002g0233 a0001c0045t0002g0074 a0002c0002t0002g0071 a0002c0002t0002g0081 a0002c0002t0002g0182 a0002c0002t0002g0195 a0002c0002t0002g0227 a0002c0004t0002g0087 a0003c0005t0002g0068 a0010c0016t0002g0165 a0015c0047t0002g0168 a0020c0040t0002g0160	27	236	0.1144	255	c.351 others(274): Show c.3514-3093_3514-3092insGGGAGATGGTCACACTGAGGGGAGGT GGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTG TGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTG GTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGT GAGGGGAGATGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGT GGTCACACTGAGGGGAGGTGGTCACAGTG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFD_chr19_854664_868641	866566	G G	GCCAGCGC others(248): Show GCCAGCGCTCCCATCTCCTCTCCGTCCACCCATCGCGGGCCCGCACCCCT CGCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCCTGCACCCC TCGCCAGCGCTCCCATCTCCTCCCCGTCCACCCGCCGCGGGCCTGCACCC CTCACCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCCTGCACC CCTCGCCAGCGCTCCCATCTCCTCCCCGTCCGCCCACCGCAGGCCCGCAC CCCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	287	0.0035	255	c.33 others(266): Show c.3328_*3329insCCAGCGCTCCCATCTCCTCTCCGTCCACCCATCG CGGGCCCGCACCCCTCGCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCC GCGGGCCTGCACCCCTCGCCAGCGCTCCCATCTCCTCCCCGTCCACCCGC CGCGGGCCTGCACCCCTCACCAGCGCTCCCATGTCCTCCCCGTCCACCCG CCGCGGGCCTGCACCCCTCGCCAGCGCTCCCATCTCCTCCCCGTCCGCCC ACCGCAGGCCCGCACCCCTCA	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		2926		chr19	TogoVar
CFD_chr19_854664_868641	866733	C C	CTCCTCCC others(248): Show CTCCTCCCCGTCCACCCGCCGCGGGCCCACACCCCTCACCAGCGCTCCCA TCTCCTCTCCGTCCGCCCACTGCGGGCCCGCACCCCTCGCCAGCGCTCCC ATGTCCTCCCCGTCCACCCGCCGCGGGCCTGCACCCCTCGCCAGCGCTCC CATGTCCTCCCCGTCCACCCGCCGCGGGCCCACACCCCTCGCCAGCGCTC CCATGTCCTCCCCGTCCACCCGCCGCGGGCCCACACCCCTCGCCAGCGCT CCCATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	287	0.0035	255	c.34 others(266): Show c.3495_*3496insTCCTCCCCGTCCACCCGCCGCGGGCCCACACCCC TCACCAGCGCTCCCATCTCCTCTCCGTCCGCCCACTGCGGGCCCGCACCC CTCGCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCCTGCACC CCTCGCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCCCACAC CCCTCGCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCCCACA CCCCTCGCCAGCGCTCCCATG	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3093		chr19	TogoVar
CFD_chr19_854664_868641	866733	C C	CTCCTCTC others(248): Show CTCCTCTCCGTCCACCCATCGCGGGCCCGCACCCCTCGCCAGCGCTCCCA TGTCCTCCCCGTCCACCCGCCGCGGGCCTGCACCCCTCGCCAGCGCTCCC ATCTCCTCTCCGTCCACCCATCGCGGGCCCGCACCCCTCGCCAGCGCTCC CATCTCCTCTCCGTCCGCCCGCCACGGGCCCGCACCCCTCGCCAGCGCTC CCATCTCCTCTCCGTCCACCCACCGCAGGCCCGCACCCCTCACCAGCGCT CCCATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG01257.hp2 HG04204.hp1 HG00140.hp2 HG01257.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0040 a0001c0001t0001g0072 a0001c0001t0001g0017 a0001c0001t0001g0040 a0001c0001t0001g0072	3	287	0.0105	255	c.34 others(266): Show c.3495_*3496insTCCTCTCCGTCCACCCATCGCGGGCCCGCACCCC TCGCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCCTGCACCC CTCGCCAGCGCTCCCATCTCCTCTCCGTCCACCCATCGCGGGCCCGCACC CCTCGCCAGCGCTCCCATCTCCTCTCCGTCCGCCCGCCACGGGCCCGCAC CCCTCGCCAGCGCTCCCATCTCCTCTCCGTCCACCCACCGCAGGCCCGCA CCCCTCACCAGCGCTCCCATG	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3093		chr19	TogoVar
CMTM7_chr3_32386853_32460528	32397296	T T	TCCTATGT others(248): Show TCCTATGTGATTATTATTATTATTATTATTATTATTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGC AATCGCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTTGTATTTTTTTTTTAGTAGAGACGGGGTTTCACCGTTTTAG CCGGGA	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19087.hp1 NA19010.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0336 a0001c0001t0002g0337	2	368	0.0054	255	c.159 others(272): Show c.159+5245_159+5246insATTATTATTATTATTATTATTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA GTGGCGCAATCGCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTA CGCCCGGCTAATTTTTTGTATTTTTTTTTTAGTAGAGACGGGGTTTCACC GTTTTAGCCGGGACCTATGTGATTATT	CMTM7	ENSG00000153551.14	transcript	ENST00000334983.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM7_chr3_32386853_32460528	32397296	T T	TCCTATGT others(248): Show TCCTATGTGATTATTATTATTATTATTATTATTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGC AATCGCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTTGTATTTTTTTTTTAGTAGAGACGGGGTTTCACCGTTTTAG CCGGGA	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	368	0.0027	255	c.159 others(272): Show c.159+5245_159+5246insATTATTATTATTATTATTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA GTGGCGCAATCGCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTA CGCCCGGCTAATTTTTTGTATTTTTTTTTTAGTAGAGACGGGGTTTCACC GTTTTAGCCGGGACCTATGTGATTATT	CMTM7	ENSG00000153551.14	transcript	ENST00000334983.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM7_chr3_32386853_32460528	32397296	T T	TCCTATGT others(248): Show TCCTATGTGATTATTATTATTATTATTATTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGC AATCGCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTTGTATTTTTTTTTTAGTAGAGACGGGGTTTCACCGTTTTAG CCGGGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00741.hp1 HG01169.hp1 others(19): Show HG00423.hp1 HG00741.hp1 HG01169.hp1 HG01261.hp2 HG01515.hp2 HG02257.hp2 HG02300.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03669.hp2 NA18522.hp1 NA18945.hp2 NA18947.hp1 NA18951.hp2 NA18952.hp1 NA18973.hp1 NA18998.hp2 NA19001.hp2 NA19011.hp2 NA19055.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0001 a0001c0001t0002 a0001c0001t0008	a0001c0001t0001g0050 a0001c0001t0001g0149 a0001c0001t0001g0243 others(19): Show a0001c0001t0001g0050 a0001c0001t0001g0149 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0244 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0008g0242	22	368	0.0598	255	c.159 others(272): Show c.159+5245_159+5246insATTATTATTATTATTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA GTGGCGCAATCGCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTA CGCCCGGCTAATTTTTTGTATTTTTTTTTTAGTAGAGACGGGGTTTCACC GTTTTAGCCGGGACCTATGTGATTATT	CMTM7	ENSG00000153551.14	transcript	ENST00000334983.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM7_chr3_32386853_32460528	32397296	T T	TCCTATGT others(248): Show TCCTATGTGATTATTATTATTATTATTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGC AATCGCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTTGTATTTTTTTTTTAGTAGAGACGGGGTTTCACCGTTTTAG CCGGGA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02109.hp1 HG01256.hp2 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0267 a0001c0001t0002g0266 a0001c0001t0001g0267 a0001c0001t0002g0266	2	368	0.0054	255	c.159 others(272): Show c.159+5245_159+5246insATTATTATTATTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA GTGGCGCAATCGCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTA CGCCCGGCTAATTTTTTGTATTTTTTTTTTAGTAGAGACGGGGTTTCACC GTTTTAGCCGGGACCTATGTGATTATT	CMTM7	ENSG00000153551.14	transcript	ENST00000334983.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
CRTC3_chr15_90524923_90650345	90647272	T T	TCCACAAT others(248): Show TCCACAATCCTCCTCCTCACCCCTCCTCCTCCACAATCCTCCTCCACACC CCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCACAATCCTCCTCC ACACCCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCCACAATCCT CCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCCACA ATCCTCCTCCTCACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCT CCTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	276	0.0036	255	c.51 others(266): Show c.5132_*5133insCCACAATCCTCCTCCTCACCCCTCCTCCTCCACA ATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCT CCACAATCCTCCTCCACACCCCTCCTCCACAATCCTCCTCCACACCCCTC CTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACAC CCCTCCTCCTCCACAATCCTCCTCCTCACCCCTCCTCCTCCACAATCCTC CTCCACACCCCTCCTCCTCCA	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		1928		chr15	TogoVar
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGAAG others(248): Show TGAGGAAGAGGGATGTGAGGGGGATGTGAGGGGGATGTGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGG GGAGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGGGGAGAGGGAGG GGAGGGGGAGGGGAGGGAGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGG GAGGGGGAGGGGGAGGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG GAGGGG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0021 a0021	a0021c0016 a0021c0016	a0021c0016t0048 a0021c0016t0048	a0021c0016t0048g0106 a0021c0016t0048g0106	1	126	0.0079	255	c.416 others(276): Show c.416-142659_416-142658insCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCCCTCTCCCCTCCCC CTCCTCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCCCTCCC CTCCCCTCCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCACATCC CCCTCACATCCCCCTCACATCCCTCTTCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CUL4A_chr13_113204613_113272108	113232218	G G	GTCACCAC others(248): Show GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGTCACCACTACCCGCCCACCACTATTACTGCTGCCACCACTA CCCGCCCACCACTATTACTGTCACCACTACCTGCCCACCATTACTGTCAC CACTACCTGCCCACCATTACTGTCACCACTACCCGCCCACCACCATTACT GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTA	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0029 a0002c0002t0001g0029	1	396	0.0025	255	c.513 others(270): Show c.513-959_513-958insTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACT ATTACTGCTGCCACCACTACCCGCCCACCACTATTACTGTCACCACTACC TGCCCACCATTACTGTCACCACTACCTGCCCACCATTACTGTCACCACTA CCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
CYLC2_chr9_102990333_103023488	103007994	C C	CAAATCCT others(248): Show CAAATCCTGGCCCTTGGAGATCGAGACCATCCTGACTAACAAGGTGAAAC CCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGTGGGCGC CTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCC GGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGT CCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	448	0.0022	255	c.70 others(274): Show c.700+1630_*700+1631insGGAGATCGAGACCATCCTGACTAACA AGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGT GGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCA GTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAATCCTGGCCCTT	CYLC2	ENSG00000155833.15	transcript	ENST00000374798.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CYP39A1_chr6_46544580_46657818	46564096	T T	TTTATTTT others(248): Show TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTATTTTATTTTTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	310	0.0032	255	c.125 others(276): Show c.1251-10243_1251-10242insTAAAATAAAATAAAATAAAATAAA ATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAA ATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAA ATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAA ATAAAATAAAAAAATAAAATAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAA	CYP39A1	ENSG00000146233.8	transcript	ENST00000275016.3	protein_coding	10/11			chr6	TogoVar
DCBLD2_chr3_98790941_98906695	98837170	G G	GGATGGGG others(248): Show GGATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCGTCACCTCCCAGATGGGGCGGCTGGCCGGGCG GAGGGCTCACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0058 a0001c0002t0002g0058	1	330	0.0030	255	c.572 others(274): Show c.572-11805_572-11804insTGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTG TCCGGGAGGGAGGTGGGGGGGTGAGCCCTCCGCCCGGCCAGCCGCCCCAT CTGGGAGGTGACGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCATC	DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	3/15			chr3	TogoVar
DECR2_chr16_396885_417482	397709	T T	TGGGGGGT others(248): Show TGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGG GGTGAGGGAGTCGGGTGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	367	0.0027	255	c.-42 others(266): Show c.-4255_-4254insGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGGGGTGAGGGAGTCGGGGGG TGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4175		chr16	TogoVar
DGAT1_chr8_144309584_144331852	144313788	G G	GCGCCGCC others(248): Show GCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCGCCGCCTCCCCGCCTCC CCGCGCCGCCTCCCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCG CGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCC CGCGCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCT CCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCC CCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	370	0.0027	255	c.27 others(266): Show c.2765_*2766insAGGCGGGGAGGCGGGGAGGCGGGGAGGCGGGGAG GCGGGGAGGCGGGGAGGCGGGGAGGCGGGGAGGCGGGGAGGCGGGGAGGC GGGGAGGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGG GAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCG GGGAGGCGGGGAGGCGGCGCGGGGAGGCGGGGAGGCGGCGCGGCGCGGGG AGGCGGCGCGGGGAGGCGGCG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		795		chr8	TogoVar
DIP2C_chr10_269201_694668	523521	T T	TACCGGAT others(248): Show TACCGGATGCAAAGGACCCTGGAGTGAAGATGCAGGGACTCTGCGTGACC CACACACTCGTTTCCACCTGAGCAAAGGACCCTGGAGTGAGGATGCAGGG ACTCTGCATGACCCACACGCTCGTTTCCACATGACACAAAGGACCCTGGA GTGAGGATGCAGGGACTCTGTGTGACCCACACACTCGTTTCTACCGGATG CAAAGGACCCTGGAGTGAAGATGCAGGGACTCTGCGTGACCCACACACTC GTTTCC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0009 a0001c0005t0001g0009	1	88	0.0114	255	c.86- others(272): Show c.86-36992_86-36991insGGAAACGAGTGTGTGGGTCACGCAGAGT CCCTGCATCTTCACTCCAGGGTCCTTTGCATCCGGTAGAAACGAGTGTGT GGGTCACACAGAGTCCCTGCATCCTCACTCCAGGGTCCTTTGTGTCATGT GGAAACGAGCGTGTGGGTCATGCAGAGTCCCTGCATCCTCACTCCAGGGT CCTTTGCTCAGGTGGAAACGAGTGTGTGGGTCACGCAGAGTCCCTGCATC TTCACTCCAGGGTCCTTTGCATCCGGT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	523521	T T	TACCGGAT others(248): Show TACCGGATGCAAAGGACCCTGGAGTGAAGATGCAGGGACTCTGCGTGACC CACACACTCGTTTCCACCTGAGCAAAGGACCCTGGAGTGAGGATGCAGGG ACTCTGCATGACCCACACGCTCGTTTCCACATGACACAAAGGACCCTGGA GTGAGGATGCAGGGACTCTGTGTGACCCGCACACTCGTTTCTACCGGATG CAAAGGACCCTGGAGTGAAGATGCAGGGACTCTGCGTGACCCACACACTC GTTTCC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01081.hp2 HG01515.hp1 others(13): Show HG00673.hp2 HG01081.hp2 HG01515.hp1 HG02040.hp1 HG02071.hp1 HG02132.hp2 HG02280.hp1 HG02602.hp1 HG02922.hp2 HG03225.hp1 HG03453.hp2 HG03579.hp2 NA18906.hp1 NA18906.hp2 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0020 a0001c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 a0001c0005t0002 a0001c0007t0002 a0001c0020t0008 a0001c0022t0003	a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 others(13): Show a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0079 a0001c0001t0002g0004 a0001c0001t0002g0025 a0001c0001t0003g0075 a0001c0002t0001g0080 a0001c0002t0003g0005 a0001c0002t0003g0006 a0001c0002t0003g0082 a0001c0005t0002g0010 a0001c0007t0002g0076 a0001c0007t0002g0077 a0001c0020t0008g0074 a0001c0022t0003g0002	16	88	0.1818	255	c.86- others(272): Show c.86-36992_86-36991insGGAAACGAGTGTGTGGGTCACGCAGAGT CCCTGCATCTTCACTCCAGGGTCCTTTGCATCCGGTAGAAACGAGTGTGC GGGTCACACAGAGTCCCTGCATCCTCACTCCAGGGTCCTTTGTGTCATGT GGAAACGAGCGTGTGGGTCATGCAGAGTCCCTGCATCCTCACTCCAGGGT CCTTTGCTCAGGTGGAAACGAGTGTGTGGGTCACGCAGAGTCCCTGCATC TTCACTCCAGGGTCCTTTGCATCCGGT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DMD_chrX_31114222_33216549	31284557	T T	TTTTTTCT others(248): Show TTTTTTCTTCTTCTTCTTCTTTCTTCTTCCTTCTTCCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0002 a0002c0012t0002	a0002c0012t0002g0098 a0002c0012t0002g0098	1	126	0.0079	255	c.922 others(276): Show c.9225-23542_9225-23541insGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAAG AAGGAAGAAGAAAGAAGAAGAAGAAGAAAAA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	62/78			chrX	TogoVar
DNAH17_chr17_78418697_78582396	78478154	C C	CCATTACC others(248): Show CCATTACCACCATAACATCACCATCATCACCATTATCACCATCATATCAC CACCACCATCACTATCATAACTATCACCACCACCATCATCACCACATCAC CATCACCATCATCACCACCATCATCACCACCATCACCATTATCACCACCA CCATCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACC ACCATCATTATCTCCACCATCACCACCACGTGGCATCATCACACCACCAT CATCAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0087 a0087	a0087c0229 a0087c0229	a0087c0229t0002 a0087c0229t0002	a0087c0229t0002g0008 a0087c0229t0002g0008	1	252	0.0040	255	c.799 others(272): Show c.7992+870_7992+871insATGATGATGGTGGTGTGATGATGCCACG TGGTGGTGATGGTGGAGATAATGATGGTGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGATAATGGTGATGGT GGTGATGATGGTGGTGATGATGGTGATGGTGATGTGGTGATGATGGTGGT GGTGATAGTTATGATAGTGATGGTGGTGGTGATATGATGGTGATAATGGT GATGATGGTGATGTTATGGTGGTAATG	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	51/80			chr17	TogoVar
DOCK1_chr10_126900428_127457516	126947875	G G	GTGGTGGT others(248): Show GTGGTGGTGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGG TAGTATTACTGTTGGTGGTGATGGTGGTTGGTAGTATTACTGTTGGTGGT GGTGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTA TTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGA TGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTAGTAT TACTGT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0004 a0004	a0004c0071 a0004c0071	a0004c0071t0003 a0004c0071t0003	a0004c0071t0003g0114 a0004c0071t0003g0114	1	136	0.0074	255	c.47- others(272): Show c.47-22822_47-22821insGTGTGGTTGGTAGTATTACTGTTGGTGG TGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTTGGTAG TATTACTGTTGGTGGTGGTGTGGTTGGTAGTATTACTGTTGGTGGTGATG GTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTA TTACTGTTGGTGGTGATGGTGGTTGGTAGTATTACTGTTGGTGGTGATGG TGGTAGTTGGTAGTATTACTGTTGGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK8_chr9_209865_470255	400235	T T	TCACCACC others(248): Show TCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCACC TCCACCATCACCACCACCTCCACCATCACCACCACCTCCACCATCACCAC CACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCACCTCCA CCATCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACC ACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCAC CATCAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0146 a0003c0004t0001g0146	1	256	0.0039	255	c.323 others(274): Show c.3234+1004_3234+1005insACCTCCACCATCACCACCACCTCCAC CATCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCA CCTCCACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCATC ACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCACCTC CACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCACCATCA CCACCACCACCTCCACCATCACCACCACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400827	T T	TCACCACC others(248): Show TCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCC ACCACCATCACCACCACCTCCACCACCACCAGCACCTCCACCATCACCAC CACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCACCA CCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCATCTTC ACCATCACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCAC CACCTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0148 a0003c0001t0001g0148	1	256	0.0039	255	c.323 others(274): Show c.3234+1573_3234+1574insCCACCTCCACCACCACCAGCATCTTC ACCATCACCACCACCTCCACCACCATCACCACCACCTCCACCACCACCAG CACCTCCACCATCACCACCACCTCCACCACCACCAGCATCTTCACCATCA CCACCACCTCCACCACCACCACCACCACCTCCACCATCACCACCACCTCC ACCACCACCAGCATCTTCACCATCACCACCACCTCCACCACCACCACCAC CTCCACCATCACCACCACCACCTCCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPEP1_chr16_89608642_89643433	89634690	T T	TCCCTTCC others(248): Show TCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCC CTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTT CCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCC TTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCT TCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCT CCTTTC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	250	0.0040	255	c.105 others(272): Show c.105-1208_105-1207insTCCTTTCCCTTCCTTCTCCTTTCCCTTC CTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTT CCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTC CTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCT TTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTT CCCTTCCTTCTCCTTTCCCCTTCCTTC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DYSF_chr2_71448561_71691763	71618579	A A	AGGTTGTG others(248): Show AGGTTGTGTTGTGTGGGGTAGAGTTGTGTGGGTGTGGTAGAGGTGGTGTG TGTGTGTGGTAGAGGTGGAGTGGTGTGTGTGGAGTAGAGGTGTGTGTGTG TGGTGGAGGTGGTGTGTGTGTGTGTGTGGTGAGGTGGTGTGTGTGTGGTA GAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTGGTAGAGGT GTGTGTGTGTGGTAGGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGG TAGGGT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	192	0.0052	255	c.441 others(274): Show c.4410+5170_4410+5171insGTTGTGTTGTGTGGGGTAGAGTTGTG TGGGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGGTGTGT GTGGAGTAGAGGTGTGTGTGTGTGGTGGAGGTGGTGTGTGTGTGTGTGTG GTGAGGTGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGG GGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGGGTGATGTGTGTG TTTGGTAGAGGTGTGTGTGTGGTAGGGTG	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	40/54		INFO_REALIGN_3_PRIME	chr2	TogoVar

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