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
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(246): Show GGGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGAGAGGGGGGAGAG GGGGAGAGGGGGGAGAGGGGGAGAGGGGGGAGAGGGGGAGAGGGGGGAGA GGGGGGAGAGGGGGGGAGAGGGGGGAGAGGGGGAAGGGGGAGGGGAGGGG GGAGAGGGGGGAGAGGGGGAAGGGGGAGGGGAGGGGGAGAGGGGGGAGGG GAGGGGAGAGGGGGGAGGGGAGAGGGGAGAGAGAAGGGAGGGGGGGAGGG GAGA	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0144 a0001c0001t0004g0144	1	356	0.0028	253	c.667 others(268): Show c.667-817_667-816insTCTCCCCTCCCCCCCTCCCTTCTCTCTCCC CTCTCCCCTCCCCCCTCTCCCCTCCCCTCCCCCCTCTCCCCCTCCCCTCC CCCTTCCCCCTCTCCCCCCTCTCCCCCCTCCCCTCCCCCTTCCCCCTCTC CCCCCTCTCCCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCTCTCCCCCC TCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCT CTCCCCCCTCTCCCCCTCTCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(246): Show GGGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGAGAGGGGGGAGAG GGGGAGAGGGGGGAGAGGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGGAG AGGGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGAAGGGGGAGGGGAGGGG GGAGAGGGGGGAGAGGGGGAAGGGGGAGGGGAGGGGGAGAGGGGGGAGGG GAGGGGAGAGGGGGGAGGGGAGAGGGGAGAGAGAAGGGAGGGGGGGAGGG GAGA	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0043 a0001c0001t0022g0043	1	356	0.0028	253	c.667 others(268): Show c.667-817_667-816insTCTCCCCTCCCCCCCTCCCTTCTCTCTCCC CTCTCCCCTCCCCCCTCTCCCCTCCCCTCCCCCCTCTCCCCCTCCCCTCC CCCTTCCCCCTCTCCCCCCTCTCCCCCCTCCCCTCCCCCTTCCCCCTCTC CCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCC TCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCT CTCCCCCCTCTCCCCCTCTCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
ATG10_chr5_81967023_82261133	81993359	C C	CTTTCTTT others(246): Show CTTTCTTTCCTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCT	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0008 a0004c0004t0008	a0004c0004t0008g0198 a0004c0004t0008g0198	1	226	0.0044	253	c.108 others(270): Show c.108+5681_108+5682insTTTCTTTCCTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCT	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	2/7			chr5	TogoVar
ATG5_chr6_106179476_106330760	106251648	G G	GGAGGGAG others(246): Show GGAGGGAGGGAGGGAGGGAGGGAGGCGGAGAGAGGGAGAAGGGAGAGAGG GAGGGAGGGGGAGGGGGAGAGGGAGGGGGAGAGGGAGGGAGGGAGAGAGG GAGAGGGAGAGGGAGGGGGAGAGAGGGAGGGAGGGTAAGAGAGGGAGAGA GGGAGGGGGAGAGAGGGAGGGAGGGAGAGAGAGGGAGAGAGGGAGGGGGG AGAAAGGAGGGGGAGGGGGAGAGAGGGAGGGGGAGGGAGGGAGGGAGGGG GAGA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	358	0.0028	253	c.479 others(270): Show c.479-3405_479-3404insTCTCCCCCTCCCTCCCTCCCTCCCCCTC CCTCTCTCCCCCTCCCCCTCCTTTCTCCCCCCTCCCTCTCTCCCTCTCTC TCCCTCCCTCCCTCTCTCCCCCTCCCTCTCTCCCTCTCTTACCCTCCCTC CCTCTCTCCCCCTCCCTCTCCCTCTCCCTCTCTCCCTCCCTCCCTCTCCC CCTCCCTCTCCCCCTCCCCCTCCCTCCCTCTCTCCCTTCTCCCTCTCTCC GCCTCCCTCCCTCCCTCCCTCCCTC	ATG5	ENSG00000057663.16	transcript	ENST00000369076.8	protein_coding	5/7			chr6	TogoVar
BCHE_chr3_165767904_165842423	165797246	T T	TTCTTCCC others(246): Show TTCTTCCCTCCCTCCCCCCTCCCTTCCTTCCTTCTTCCCTCCCTCCTTCC TCCCTCCCTCCCCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCC TTCCTCCCTCCCTCCCCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCC CTCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCTCCCTTCC TTCCTTCCTTCCTTCCTCCCTCCCTCCTTCCTTCTTCCCTCCCTCCTTCC TCCC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0088 a0001c0001t0003g0088	1	304	0.0033	253	c.151 others(274): Show c.1518-10936_1518-10935insGGGAGGAAGGAGGGAGGGAAGAAG GAAGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAG GGAGGAAGGAGGGAGGGAAGAAGGAAGGAGGGAGGGAGGAAGGAAGGAAG GAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAGGGAGGAAG GAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAAGAAG GAAGGAAGGGAGGGGGGAGGGAGGGAAGA	BCHE	ENSG00000114200.10	transcript	ENST00000264381.8	protein_coding	2/3			chr3	TogoVar
BCHE_chr3_165767904_165842423	165797255	T T	TCCCTCCC others(246): Show TCCCTCCCCCCTCCCTTCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCC TCCCCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCC TCCCTCCCCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCTTCC TTCTTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCTCCCTTCCTTCCTTCC TTCCTTCCTCCCTCCCTCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCC TCCC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0089 a0001c0001t0003g0089	1	304	0.0033	253	c.151 others(274): Show c.1518-10945_1518-10944insGGGAGGGAGGGAGGAAGGAGGGAG GGAAGAAGGAAGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGGG GGAGGGAGGGAGGAAGGAGGGAGGGAAGAAGGAAGGAGGGAGGGAGGAAG GAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAG GGAGGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAG GGAAGAAGGAAGGAAGGGAGGGGGGAGGG	BCHE	ENSG00000114200.10	transcript	ENST00000264381.8	protein_coding	2/3			chr3	TogoVar
BTAF1_chr10_91918770_92036437	92012179	C C	CCCTCTCC others(246): Show CCCTCTCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCTCCTCT CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCTCCTC TCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCC TCCT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0261 a0001c0001t0002g0261	1	330	0.0030	253	c.431 others(270): Show c.4311+766_4311+767insTCTCCTCCTCCCCTCCCCTCCCCTCCTC CCCTCCCCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCT CCCCTCCCCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC TCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCC CTCCCCTCCTCCCCTCCCCTCCTCC	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNA1H_chr16_1148106_1226768	1185867	C C	CATGTGTA others(246): Show CATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGG CGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTG CGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATG TGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGG CATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGC ATGT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0004 a0004	a0004c0019 a0004c0019	a0004c0019t0001 a0004c0019t0001	a0004c0019t0001g0148 a0004c0019t0001g0148	1	338	0.0030	253	c.300 others(270): Show c.300-9105_300-9104insATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGG GGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTG GGGGGCGGGCGAGTAGACGGCATGT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34			chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1204746	T T	TCCCAGAT others(246): Show TCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGAT CAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCA GGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGG TGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCC GCGGGTGGGGGCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGG GGGC	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0158	1	338	0.0030	253	c.245 others(270): Show c.2451+320_2451+321insCGGGTGGGGCCCCAGATCAGTGCCGGGG AGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCAGGGAGGGGTGG GAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCG GGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGG CCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCCAGAT CAGTGCCGGGGAGGGGTGGGAGCCG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1204746	T T	TCCCAGAT others(246): Show TCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGAT CAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCG GGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGG TGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCC GCGGGTGGGGGCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGG GGGC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00597.hp2 others(32): Show HG00423.hp1 HG00438.hp2 HG00597.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01261.hp1 HG01496.hp1 HG01516.hp2 HG01928.hp2 HG02083.hp2 HG02735.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03669.hp1 HG03669.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG04184.hp1 NA18943.hp2 NA18948.hp1 NA18959.hp1 NA18960.hp1 NA18964.hp1 NA18969.hp1 NA19004.hp2 NA19009.hp1 NA19081.hp2 NA19087.hp1 NA19091.hp1 NA20752.hp2 NA20805.hp2	a0001 a0006 a0013 others(5): Show a0001 a0006 a0013 a0014 a0033 a0044 a0048 a0049	a0001c0001 a0001c0086 a0001c0088 others(8): Show a0001c0001 a0001c0086 a0001c0088 a0001c0092 a0006c0004 a0013c0030 a0014c0018 a0033c0106 a0044c0090 a0048c0093 a0049c0095	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0086t0001 a0001c0088t0001 a0001c0092t0009 a0006c0004t0004 a0013c0030t0013 a0014c0018t0004 a0033c0106t0001 a0044c0090t0001 a0048c0093t0002 a0049c0095t0002	a0001c0001t0001g0044 a0001c0001t0001g0051 a0001c0001t0001g0133 others(31): Show a0001c0001t0001g0044 a0001c0001t0001g0051 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0159 a0001c0001t0001g0177 a0001c0001t0001g0195 a0001c0001t0001g0200 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0231 a0001c0001t0001g0314 a0001c0001t0002g0143 a0001c0001t0002g0152 a0001c0001t0002g0161 a0001c0001t0002g0238 a0001c0001t0005g0268 a0001c0001t0005g0275 a0001c0086t0001g0023 a0001c0088t0001g0016 a0001c0092t0009g0306 a0006c0004t0004g0003 a0006c0004t0004g0285 a0006c0004t0004g0286 a0013c0030t0013g0251 a0014c0018t0004g0034 a0014c0018t0004g0311 a0033c0106t0001g0160 a0044c0090t0001g0240 a0048c0093t0002g0089 a0049c0095t0002g0197	35	338	0.1036	253	c.245 others(270): Show c.2451+320_2451+321insCGGGTGGGGCCCCAGATCAGTGCCGGGG AGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGG GAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCG GGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGG CCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCCAGAT CAGTGCCGGGGAGGGGTGGGAGCCG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1204746	T T	TCCCAGAT others(246): Show TCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGAT CAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCG GGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGG TGGGAGCCGCGGGTGGGGGCCCAGATCAGTGCCGGGGAGGGGTGGGAGCC GCGGGTGGGGGCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGG GGGC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00621.hp2 others(11): Show HG00408.hp2 HG00438.hp1 HG00621.hp2 HG02056.hp2 NA18945.hp1 NA18980.hp2 NA18983.hp1 NA18999.hp2 NA19002.hp1 NA19005.hp2 NA19007.hp2 NA19057.hp2 NA19081.hp1 NA19087.hp2	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0034 a0076	a0001c0001 a0002c0002 a0002c0014 others(3): Show a0001c0001 a0002c0002 a0002c0014 a0006c0004 a0034c0105 a0076c0126	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 others(6): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0002c0002t0007 a0002c0014t0007 a0002c0014t0008 a0006c0004t0017 a0034c0105t0007 a0076c0126t0001	a0001c0001t0001g0052 a0001c0001t0001g0079 a0001c0001t0001g0118 others(11): Show a0001c0001t0001g0052 a0001c0001t0001g0079 a0001c0001t0001g0118 a0001c0001t0001g0307 a0001c0001t0002g0090 a0002c0002t0002g0243 a0002c0002t0007g0082 a0002c0014t0007g0081 a0002c0014t0007g0083 a0002c0014t0007g0123 a0002c0014t0008g0267 a0006c0004t0017g0263 a0034c0105t0007g0058 a0076c0126t0001g0169	14	338	0.0414	253	c.245 others(270): Show c.2451+320_2451+321insCGGGTGGGGCCCCAGATCAGTGCCGGGG AGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGG GAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCG GGTGGGGGCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGG CCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCCAGAT CAGTGCCGGGGAGGGGTGGGAGCCG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1204779	T T	TGGGTGGG others(246): Show TGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCAGGTGGG GCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGA TCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAGTGCC GGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAGTGCCGGGGAGGG GTGGGAGCCGCGGGTGGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAG CCGC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0079 a0079	a0079c0136 a0079c0136	a0079c0136t0001 a0079c0136t0001	a0079c0136t0001g0073 a0079c0136t0001g0073	1	338	0.0030	253	c.245 others(270): Show c.2452-293_2452-292insAGGTGGGGCCCCAGATCAGTGCCGGGGA GGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGG AGCCGCGGGTGGGGGCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGG GTGGGGGCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGC CCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATC AGTGCCGGGGAGGGGTGGGAGCCGC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1204779	T T	TGGGTGGG others(246): Show TGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGG GCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGA TCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCC GGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAGTGCCGGGGAGGG GTGGGAGCCGCGGGTGGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAG CCGC	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0041 a0041	a0041c0098 a0041c0098	a0041c0098t0004 a0041c0098t0004	a0041c0098t0004g0033 a0041c0098t0004g0033	1	338	0.0030	253	c.245 others(270): Show c.2452-243_2452-242insCCCCAGATCAGTGCCGGGGAGGGGTGGG AGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGG GTGGGGGCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGC CCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATC AGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGG GGAGGGGTGGGAGCCGCGGGTGGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1204779	T T	TGGGTGGG others(246): Show TGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGG GCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGA TCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAGTGCC GGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAGTGCCGGGGAGGG GTGGGAGCCGCGGGTGGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAG CCGC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00544.hp2 others(70): Show HG00408.hp1 HG00423.hp2 HG00544.hp2 HG00597.hp1 HG00621.hp1 HG01071.hp1 HG01081.hp2 HG01109.hp2 HG01123.hp2 HG01346.hp1 HG01361.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02572.hp1 HG02615.hp2 HG03486.hp2 HG03516.hp1 NA18906.hp1 NA18943.hp1 NA18945.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19057.hp1 NA19065.hp1 NA19080.hp1 NA19080.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2	a0001 a0004 a0005 others(5): Show a0001 a0004 a0005 a0006 a0027 a0037 a0050 a0069	a0001c0001 a0001c0031 a0001c0032 others(14): Show a0001c0001 a0001c0031 a0001c0032 a0001c0041 a0001c0070 a0001c0087 a0001c0091 a0001c0094 a0001c0097 a0004c0006 a0004c0019 a0005c0003 a0006c0004 a0027c0127 a0037c0081 a0050c0102 a0069c0121	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0015 a0001c0001t0022 a0001c0001t0024 a0001c0001t0034 a0001c0001t0035 a0001c0031t0001 a0001c0032t0021 a0001c0041t0001 a0001c0070t0001 a0001c0087t0002 a0001c0091t0029 a0001c0094t0016 a0001c0097t0001 a0004c0006t0001 a0004c0006t0002 a0004c0019t0001 a0004c0019t0002 a0005c0003t0009 a0006c0004t0004 a0006c0004t0011 a0027c0127t0009 a0037c0081t0001 a0050c0102t0002 a0069c0121t0005	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 others(69): Show a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0124 a0001c0001t0001g0140 a0001c0001t0001g0182 a0001c0001t0001g0193 a0001c0001t0001g0198 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0219 a0001c0001t0001g0236 a0001c0001t0001g0292 a0001c0001t0001g0296 a0001c0001t0001g0302 a0001c0001t0001g0315 a0001c0001t0001g0322 a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0002g0065 a0001c0001t0002g0084 a0001c0001t0002g0091 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0101 a0001c0001t0002g0137 a0001c0001t0002g0156 a0001c0001t0002g0196 a0001c0001t0005g0248 a0001c0001t0005g0249 a0001c0001t0005g0269 a0001c0001t0009g0001 a0001c0001t0009g0213 a0001c0001t0009g0216 a0001c0001t0010g0013 a0001c0001t0010g0135 a0001c0001t0010g0155 a0001c0001t0015g0116 a0001c0001t0022g0298 a0001c0001t0024g0106 a0001c0001t0034g0117 a0001c0001t0035g0078 a0001c0031t0001g0217 a0001c0031t0001g0218 a0001c0032t0021g0265 a0001c0032t0021g0266 a0001c0041t0001g0220 a0001c0070t0001g0092 a0001c0087t0002g0242 a0001c0091t0029g0328 a0001c0094t0016g0093 a0001c0097t0001g0077 a0004c0006t0001g0199 a0004c0006t0001g0291 a0004c0006t0001g0294 a0004c0006t0001g0303 a0004c0006t0001g0305 a0004c0006t0002g0096 a0004c0019t0001g0222 a0004c0019t0002g0063 a0005c0003t0009g0180 a0006c0004t0004g0022 a0006c0004t0004g0024 a0006c0004t0004g0187 a0006c0004t0011g0057 a0027c0127t0009g0164 a0037c0081t0001g0088 a0050c0102t0002g0099 a0069c0121t0005g0264	73	338	0.2160	253	c.245 others(270): Show c.2452-243_2452-242insCCCCAGATCAGTGCCGGGGAGGGGTGGG AGCCGCGGGTGGGGGCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGG GTGGGGGCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGC CCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATC AGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGG GGAGGGGTGGGAGCCGCGGGTGGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1204779	T T	TGGGTGGG others(246): Show TGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGG GCCCCAGATCAGTGCCGGGGAGGGGTTGGAGCCGCGGGTGGGGCCCCAGA TCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAGTGCC GGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAGTGCCGGGGAGGG GTGGGAGCCGCGGGTGGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAG CCGC	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	338	0.0030	253	c.245 others(270): Show c.2452-260_2452-259insTGGAGCCGCGGGTGGGGCCCCAGATCAG TGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAGTGCCGGGG AGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAGTGCCGGGGAGGGGTGG GAGCCGCGGGTGGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGC GGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGG CCCCAGATCAGTGCCGGGGAGGGGT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1204783	T T	TGGGGCCC others(246): Show TGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCC CAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAG TGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGG AGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAGTGCCGGGGAGGGGTGG GAGCCGCGGGTGGGGGCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCG GGTG	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0039 a0039	a0039c0099 a0039c0099	a0039c0099t0006 a0039c0099t0006	a0039c0099t0006g0054 a0039c0099t0006g0054	1	338	0.0030	253	c.245 others(270): Show c.2452-243_2452-242insCCCCAGATCAGTGCCGGGGAGGGGTGGG AGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGG GTGGGGGCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGC CCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCCAGATC AGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGG GGAGGGGTGGGAGCCGCGGGTGGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1204821	C C	CGGGTGGG others(246): Show CGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGG GCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGA TCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCCGATCAGTGCC GGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAGTGCCGGGGAGGG GTGGGAGCCACGGGTGGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAG CCGT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00733.hp2 HG01081.hp1 others(11): Show HG00639.hp2 HG00733.hp2 HG01081.hp1 HG01243.hp2 HG01361.hp2 HG02040.hp2 HG02280.hp1 HG03492.hp1 HG03704.hp1 HG03927.hp1 HG04199.hp1 NA18995.hp1 NA18999.hp1 NA20905.hp2	a0009 a0011 a0012 others(6): Show a0009 a0011 a0012 a0022 a0025 a0056 a0071 a0072 a0073	a0009c0116 a0011c0020 a0011c0129 others(9): Show a0009c0116 a0011c0020 a0011c0129 a0012c0036 a0012c0038 a0022c0114 a0022c0117 a0025c0047 a0056c0115 a0071c0124 a0072c0123 a0073c0125	a0009c0116t0006 a0011c0020t0006 a0011c0020t0012 others(11): Show a0009c0116t0006 a0011c0020t0006 a0011c0020t0012 a0011c0129t0012 a0012c0036t0001 a0012c0038t0001 a0012c0038t0002 a0022c0114t0006 a0022c0117t0006 a0025c0047t0005 a0056c0115t0003 a0071c0124t0003 a0072c0123t0006 a0073c0125t0001	a0009c0116t0006g0188 a0011c0020t0006g0061 a0011c0020t0012g0335 others(11): Show a0009c0116t0006g0188 a0011c0020t0006g0061 a0011c0020t0012g0335 a0011c0129t0012g0122 a0012c0036t0001g0035 a0012c0038t0001g0295 a0012c0038t0002g0115 a0022c0114t0006g0189 a0022c0117t0006g0037 a0025c0047t0005g0247 a0056c0115t0003g0190 a0071c0124t0003g0103 a0072c0123t0006g0059 a0073c0125t0001g0047	14	338	0.0414	253	c.245 others(270): Show c.2452-243_2452-242insCCCCAGATCAGTGCCGGGGAGGGGTGGG AGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGG GTGGGGGCCCCGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGC CCAGATCAGTGCCGGGGAGGGGTGGGAGCCACGGGTGGGGGCCCCAGATC AGTGCCGGGGAGGGGTGGGAGCCGTGGGTGGGGCCCCAGATCAGTGCCGG GGAGGGGTGGGAGCCGCGGGTGGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1204872	G G	GCCCAGAT others(246): Show GCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCAGAT CAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCCAGATCAGTGCC GGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGG GTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGC CGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTG GGGC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01099.hp2 HG00642.hp1 HG01099.hp2	a0019 a0019	a0019c0033 a0019c0033	a0019c0033t0005 a0019c0033t0005	a0019c0033t0005g0254 a0019c0033t0005g0260 a0019c0033t0005g0254 a0019c0033t0005g0260	2	338	0.0059	253	c.245 others(270): Show c.2452-201_2452-200insGCCCAGATCAGTGCCGGGGAGGGGTGGG AGCCGCGGGTGGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCG GGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGC CCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATC AGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGG GGAGGGGTGGGAGCCGCGGGTGGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1204872	G G	GCCCAGAT others(246): Show GCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCCAGA TCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCC GGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGG GTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGC CGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGTGGGTG GGGC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0055 a0002c0055	a0002c0055t0001 a0002c0055t0001	a0002c0055t0001g0215 a0002c0055t0001g0215	1	338	0.0030	253	c.245 others(270): Show c.2452-201_2452-200insGCCCCAGATCAGTGCCGGGGAGGGGTGG GAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCG GGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGC CCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATC AGTGCCGGGGAGGGGTGGGAGCCGTGGGTGGGGCCCCAGATCAGTGCCGG GGAGGGGTGGGAGCCGCGGGTGGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1204881	A A	AGTGCCGG others(246): Show AGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAGTGCCGG GGAGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAGTGCCGGGGAGGGGT GGGAGCCGCGGGTGGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCC GCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGG GGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAG ATCG	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0138 a0001c0001t0002g0138	1	338	0.0030	253	c.245 others(270): Show c.2452-201_2452-200insGCCCAGATCAGTGCCGGGGAGGGGTGGG AGCCGCGGGTGGGGGCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGG GTGGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGC CCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATC AGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCGGTGCCGG GGAGGGGTGGGAGCCGCGGGTGGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1204960	C C	CAGATCAG others(246): Show CAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAG TGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGG AGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGG GAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCG GGTGGGGACCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGC CCCA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp2 HG01243.hp1 others(14): Show HG00280.hp1 HG00558.hp2 HG01243.hp1 HG02074.hp2 HG02132.hp1 HG02280.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03579.hp2 NA18959.hp2 NA18967.hp2 NA18979.hp2 NA18980.hp1 NA19005.hp1 NA20129.hp2	a0002 a0003 a0008 others(6): Show a0002 a0003 a0008 a0017 a0029 a0030 a0067 a0068 a0080	a0002c0002 a0002c0007 a0003c0015 others(8): Show a0002c0002 a0002c0007 a0003c0015 a0008c0056 a0017c0064 a0017c0066 a0029c0065 a0030c0067 a0067c0130 a0068c0118 a0080c0045	a0002c0002t0001 a0002c0007t0001 a0002c0007t0003 others(11): Show a0002c0002t0001 a0002c0007t0001 a0002c0007t0003 a0002c0007t0010 a0003c0015t0004 a0003c0015t0011 a0008c0056t0038 a0017c0064t0032 a0017c0066t0025 a0029c0065t0007 a0030c0067t0020 a0067c0130t0004 a0068c0118t0010 a0080c0045t0005	a0002c0002t0001g0114 a0002c0007t0001g0029 a0002c0007t0001g0030 others(14): Show a0002c0002t0001g0114 a0002c0007t0001g0029 a0002c0007t0001g0030 a0002c0007t0003g0070 a0002c0007t0003g0071 a0002c0007t0003g0304 a0002c0007t0010g0062 a0003c0015t0004g0060 a0003c0015t0011g0015 a0008c0056t0038g0224 a0017c0064t0032g0276 a0017c0066t0025g0232 a0029c0065t0007g0202 a0030c0067t0020g0323 a0067c0130t0004g0309 a0068c0118t0010g0128 a0080c0045t0005g0274	17	338	0.0503	253	c.245 others(270): Show c.2452-154_2452-153insAGATCAGTGCCGGGGAGGGGTGGGAGCC GCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGG GGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAG ATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGC CGGGGAGGGGTGGGAGCCGCGGGTGGGGACCCAGATCAGTGCCGGGGAGG GGTGGGAGCCGCGGGTGGGGCCCCA	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34			chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1204960	C C	CGATCAGT others(246): Show CGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAGT GCCGGGGAGGGGTGGGAGCCACGGGTGGGGGCCCCAGATCAGTGCCGGGG AGGGGTGGGAGCCGTGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGG GAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCG GGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGG CCCA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03471.hp1 NA19030.hp1 HG02258.hp1 HG03471.hp1 NA19030.hp1	a0003 a0058 a0070 a0003 a0058 a0070	a0003c0068 a0058c0069 a0070c0122 a0003c0068 a0058c0069 a0070c0122	a0003c0068t0004 a0058c0069t0033 a0070c0122t0003 a0003c0068t0004 a0058c0069t0033 a0070c0122t0003	a0003c0068t0004g0290 a0058c0069t0033g0049 a0070c0122t0003g0326 a0003c0068t0004g0290 a0058c0069t0033g0049 a0070c0122t0003g0326	3	338	0.0089	253	c.245 others(270): Show c.2452-117_2452-116insGCCCAGATCAGTGCCGGGGAGGGGTGGG AGCCACGGGTGGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGTG GGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGC CCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATC AGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAGTGCCGG GGAGGGGTGGGAGCCGCGGGTGGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1204977	G G	GGGTGGGA others(246): Show GGGTGGGAGCCGCGGGTGGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGG AGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGG GTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCC CCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCA GTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGG GAGA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0127 a0001c0001t0002g0127	1	338	0.0030	253	c.245 others(270): Show c.2452-117_2452-116insGCCCCAGATCAGTGCCGGGGAGGGGTGG GAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCG GGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGC CCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATC AGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGG GGAGAGGTGGGAGCCGCGGGTGGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNG6_chr19_53986637_54017666	53991045	G G	GCCCAGGC others(246): Show GCCCAGGCCTTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCC TCCCTCAGACCCAGGAGCCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAG GAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTTCAGGCCCC CAGCCCCTCCTCAGACCCAGGAGCCCAGGCCCCAGCCCCTCCTCCCTCAG ACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTTCA GGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp2 NA18944.hp2 NA18983.hp2 others(1): Show NA18942.hp2 NA18944.hp2 NA18983.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0320 a0001c0001t0001g0335 a0001c0001t0001g0011 a0001c0001t0001g0320 a0001c0001t0001g0335	4	430	0.0093	253	c.-18 others(264): Show c.-1833_-1832insCCCAGGCCTTCCTCCCTCAGACCCAGGAGCCCAG GCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCAGCCCCTC CTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCC AGGAGTTCAGGCCCCCAGCCCCTCCTCAGACCCAGGAGCCCAGGCCCCAG CCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTC AGACCCAGGAGTTCAGGCC	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding		591		chr19	TogoVar
CACNG8_chr19_53957937_53995215	53991045	G G	GCCCAGGC others(246): Show GCCCAGGCCTTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCC TCCCTCAGACCCAGGAGCCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAG GAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTTCAGGCCCC CAGCCCCTCCTCAGACCCAGGAGCCCAGGCCCCAGCCCCTCCTCCCTCAG ACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTTCA GGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp1 NA18944.hp2 NA18983.hp1 others(1): Show NA18942.hp1 NA18944.hp2 NA18983.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0023 a0001c0001t0077 a0001c0001t0017 a0001c0001t0023 a0001c0001t0077	a0001c0001t0017g0179 a0001c0001t0023g0021 a0001c0001t0077g0021 a0001c0001t0017g0179 a0001c0001t0023g0021 a0001c0001t0077g0021	4	394	0.0102	253	c.81 others(264): Show c.8196_*8197insCCCAGGCCTTCCTCCCTCAGACCCAGGAGCCCAG GCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCAGCCCCTC CTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCC AGGAGTTCAGGCCCCCAGCCCCTCCTCAGACCCAGGAGCCCAGGCCCCAG CCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTC AGACCCAGGAGTTCAGGCC	CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding		831		chr19	TogoVar
CADPS2_chr7_122313411_122891460	122705879	A A	AATAAATA others(246): Show AATAAATATAATATAATATAATATATAATATAATATATAATATATAATAT AATATATAATATATAATATATAATATAATATATAATATATAATATATTAT ATAATATAATGTATAATATATTATATAATATAATGTATAATATATTATAT AATATAATGTATAATATATTATATAATATAATATATAATATATTATATAA TATAATATATAATATATTATATAATATAATATATAATATATTATATAATA TAAT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0065 a0001c0002t0001g0065	1	126	0.0079	253	c.453 others(272): Show c.453+31075_453+31076insATTATATTATATAATATATTATATAT TATATTATATAATATATTATATATTATATTATATAATATATTATATATTA TATTATATAATATATTATACATTATATTATATAATATATTATACATTATA TTATATAATATATTATACATTATATTATATAATATATTATATATTATATA TTATATTATATATTATATATTATATATTATATTATATATTATATATTATA TTATATATTATATTATATTATATTTAT	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	2/29			chr7	TogoVar
CALCOCO2_chr17_48826035_48870245	48858046	A A	ATAGAATA others(246): Show ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAG	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0060 a0003c0003t0001g0060	1	328	0.0031	253	c.100 others(272): Show c.1008+1859_1008+1860insTAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAG	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	10/12			chr17	TogoVar
CAPN12_chr19_38725192_38749474	38736581	A A	AAGGGGCG others(246): Show AAGGGGCGTCGGGGCAGGGGAGAGAGGGGCGTCGGGGCAGGGGAGAGAGG GGCGTCGGGGCAGGGGAGAGAGGGGCGTCGGGGCAGGGGAGAGAGGGGCG TCGGGGCAGGGGAGAGAGGGGCGTCGGGGCAGGGGAGAGAGGGGCGTCGG GGCAGGGGAGAGAGGGGCGTCGGGGCAGGGGAGAGAGGGGCGTCGGGGCA GGGGAGAGAGGGGCGTCGGGGCAGGGGAGAGAGGGGCGTCGGGGCAGGGG AGAG	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0019 a0003c0005t0004g0019	1	342	0.0029	253	c.136 others(268): Show c.1363-19_1363-18insCTCTCCCCTGCCCCGACGCCCCTCTCTCCC CTGCCCCGACGCCCCTCTCTCCCCTGCCCCGACGCCCCTCTCTCCCCTGC CCCGACGCCCCTCTCTCCCCTGCCCCGACGCCCCTCTCTCCCCTGCCCCG ACGCCCCTCTCTCCCCTGCCCCGACGCCCCTCTCTCCCCTGCCCCGACGC CCCTCTCTCCCCTGCCCCGACGCCCCTCTCTCCCCTGCCCCGACGCCCCT CTCTCCCCTGCCCCGACGCCCCT	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	10/20			chr19	TogoVar
CBFA2T3_chr16_88869858_88982207	88932295	A A	ACTTCCAG others(246): Show ACTTCCAGGAAAGAGGCCGCCCTGGCGCTGGACTCAATGACCATAAAACA GCCTCTTAAGCTGGGTGCAGCGGCTCACGCCTACAATCCCAGCACTTTGG GAGGCTGAGGTGGGAGGATCGTTTGAGCCCAGGAGCTTGAGACAGCCTGG GCGATGTAGCAAGACCCCATCTCTACCAAAAAAATTAAAAATTAAAAAAA CAATTAGCTGGGCATAGTGGTGAACACCCATAGTCCCAGCTACTCTGTAG GCTG	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	284	0.0035	253	c.152 others(272): Show c.152-30892_152-30640dupCAGCCTACAGAGTAGCTGGGACTATG GGTGTTCACCACTATGCCCAGCTAATTGTTTTTTTAATTTTTAATTTTTT TGGTAGAGATGGGGTCTTGCTACATCGCCCAGGCTGTCTCAAGCTCCTGG GCTCAAACGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTGTAGGC GTGAGCCGCTGCACCCAGCTTAAGAGGCTGTTTTATGGTCATTGAGTCCA GCGCCAGGGCGGCCTCTTTCCTGGAAG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CD226_chr18_69848274_69952873	69894561	A A	AGGGGAGG others(246): Show AGGGGAGGGGAGGGAGGGGAGGGGAGGGGAGGGAGGGAAGGGAGGGAAGG GAGGGAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGCAGATGGGGGCAG GGGAGGGGAGTGGATGGGGGCAGGGGAGGGGAGGGGAGGGGGAGGGAGAC CGGAAGGGGAGGGAGACGGGGAGGGGAGGGAGACGGGGAGGGGGAGGGCA GGGGAGGGGAAGGGCAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGG GGAG	intron_variant intron_variant	MODIFIER	HG01346.hp2 NA18522.hp2 HG01346.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0059 a0002c0002t0070 a0002c0002t0059 a0002c0002t0070	a0002c0002t0059g0070 a0002c0002t0070g0035 a0002c0002t0059g0070 a0002c0002t0070g0035	2	256	0.0078	253	c.727 others(270): Show c.727+1139_727+1140insCTCCCCTCCCCTTCCCCTCCCCTCCCCT TCCCCTCCCCTGCCCTTCCCCTCCCCTGCCCTCCCCCTCCCCGTCTCCCT CCCCTCCCCGTCTCCCTCCCCTTCCGGTCTCCCTCCCCCTCCCCTCCCCT CCCCTGCCCCCATCCACTCCCCTCCCCTGCCCCCATCTGCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTCCC CTCCCCTCCCCTCCCTCCCCTCCCC	CD226	ENSG00000150637.9	transcript	ENST00000582621.6	protein_coding	3/5			chr18	TogoVar
CDH13_chr16_82621969_83805640	83031167	T T	TATATACA others(246): Show TATATACATGCGCATGTATACACCATATACATGCGCATGTATACACCATA TACATGCGCATGTATACACCATATACATGCGCATGTATACACCATATACA TGCGCATGTATACACCATATACATGCGCATGTATACACCATATACATGCG CATGTATACACCATATACATGCGCATGTATACACCATATACATGCGCATG TATACACCATATACATGCGCATGTATACACCATATACATGCGCATGTATA CACC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02027.hp1 HG02630.hp1 others(6): Show HG01175.hp2 HG02027.hp1 HG02630.hp1 HG03098.hp2 HG03239.hp2 HG03491.hp2 HG03669.hp2 NA19030.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0033 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0033 a0001c0002t0002 a0001c0002t0005 a0001c0004t0030 a0001c0008t0015 a0001c0010t0003	a0001c0001t0001g0024 a0001c0001t0001g0104 a0001c0001t0002g0007 others(6): Show a0001c0001t0001g0024 a0001c0001t0001g0104 a0001c0001t0002g0007 a0001c0001t0033g0049 a0001c0002t0002g0026 a0001c0002t0005g0082 a0001c0004t0030g0102 a0001c0008t0015g0048 a0001c0010t0003g0062	9	110	0.0818	253	c.158 others(268): Show c.158-710_158-709insACACCATATACATGCGCATGTATACACCAT ATACATGCGCATGTATACACCATATACATGCGCATGTATACACCATATAC ATGCGCATGTATACACCATATACATGCGCATGTATACACCATATACATGC GCATGTATACACCATATACATGCGCATGTATACACCATATACATGCGCAT GTATACACCATATACATGCGCATGTATACACCATATACATGCGCATGTAT ACACCATATACATGCGCATGTAT	CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH13_chr16_82621969_83805640	83031292	C C	CGCATGTA others(246): Show CGCATGTATACACCATATACATGCGCATGTATACACCATATACATGCGCA TGTATACACCATATACATGCGCATGTATACACCATATACATGCGCATGTA TACACCATATACATGCGCATGTATACACCATATACATGCGCATGTATACA CCATATACATGCGCATGTATACACCATATACATGCGCATGTATACACCAT ATACATGCGCATGTATACACCATATACATGCGCATGTATACACCATATAC ATGG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0033 a0001c0001t0006g0033	1	110	0.0091	253	c.158 others(268): Show c.158-710_158-709insACACCATATACATGCGCATGTATACACCAT ATACATGCGCATGTATACACCATATACATGCGCATGTATACACCATATAC ATGCGCATGTATACACCATATACATGCGCATGTATACACCATATACATGC GCATGTATACACCATATACATGCGCATGTATACACCATATACATGCGCAT GTATACACCATATACATGCGCATGTATACACCATATACATGCGCATGTAT ACACCATATACATGGGCATGTAT	CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CKAP5_chr11_46738048_46851280	46754581	T T	TTAGCATT others(246): Show TTAGCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCG GGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCG GCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAG GATG	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	294	0.0034	253	c.486 others(270): Show c.4869+306_4869+307insCATCCTGGCTAACAAGGTGAAACCCCGT CTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTA GTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAATGCTA	CKAP5	ENSG00000175216.15	transcript	ENST00000529230.6	protein_coding	36/43			chr11	TogoVar
COMMD10_chr5_116080025_116298287	116158170	C C	CCTCCCTC others(246): Show CCTCCCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGT CTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCC CTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTC TCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGT CTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCC CTCT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0276	1	350	0.0029	253	c.510 others(272): Show c.510+23996_510+23997insCTCCTCTCTCTCCGTCTCCTCTCTCT CCGTCTCCTCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTC TCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCC TCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCT CCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTC TCCCCTCTCTCCGTCTCCCCTCTCTCC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
CR1L_chr1_207640133_207728703	207686116	C C	CTCCCTCC others(246): Show CTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCATCCCTCCCTCCCT CCCTCCCTCCCTCCTTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCC CTTCCTTCCTTCCTCCCTCCCTCCATCCCTCCCTCCCTCCCTCCCTCCCT CCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCCTC CCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCC TCCA	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0182 a0003c0003t0001g0182	1	346	0.0029	253	c.463 others(270): Show c.463+2168_463+2169insCCCTTCCTTCCTTCCTCCCTCCCTCCAT CCCTCCCTCCCTCCCTCCCTCCCTCCTTTCCTTCCTTCCTCCCTCCCTCC CTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCATCCCTCCCTCCCT CCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTC CTCCCTCCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCC TTCCTCCCTCCCTCCATCCCTCCCT	CR1L	ENSG00000197721.17	transcript	ENST00000508064.7	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CTDP1_chr18_79674803_79759503	79752452	C C	CGCTGGTT others(246): Show CGCTGGTTATGCAGAGGAGGCTCCTAAGGAAAGCCTAGTGCACCGGCTGG TTATGCAGAGGCTCCTAAGGAAAGCCTAGGGCACCGGCTGGTTATGCAGA GGCTCCTAAGGAAAGCCTAGTGGCACCGGCTGGTTATGCAGAGGCTCCTA AGGAAAGCCTAGTGGCACCGGCTGGTTATGCAGAGGCTCGTAAGGAAAGC CTAGTGGCACCGGCTGGTTATGCAGAGGCTCCTAAGGAAAGCCTAGTGGC ACCG	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0312 a0004c0004t0001g0312	1	378	0.0027	253	c.274 others(272): Show c.2748-1184_2748-1183insAGGCTCCTAAGGAAAGCCTAGTGCAC CGGCTGGTTATGCAGAGGCTCCTAAGGAAAGCCTAGGGCACCGGCTGGTT ATGCAGAGGCTCCTAAGGAAAGCCTAGTGGCACCGGCTGGTTATGCAGAG GCTCCTAAGGAAAGCCTAGTGGCACCGGCTGGTTATGCAGAGGCTCGTAA GGAAAGCCTAGTGGCACCGGCTGGTTATGCAGAGGCTCCTAAGGAAAGCC TAGTGGCACCGGCTGGTTATGCAGAGG	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCDC1_chr11_30858603_31374739	31213118	T T	TCTCCTCT others(246): Show TCTCCTCTCTCTCTCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0106 a0002c0003t0001g0106	1	152	0.0066	253	c.122 others(274): Show c.1221+28331_1221+28332insGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGAGAGAGAGAGGAG	DCDC1	ENSG00000170959.15	transcript	ENST00000684477.1	protein_coding	9/38			chr11	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(246): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGG GGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG GGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	367	0.0027	253	c.-42 others(264): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DIP2C_chr10_269201_694668	608535	A A	ACACACAC others(246): Show ACACACACACCCCCCCCCACACACACACCCCCCCCCACACACACACCCCC CCCCCACACACACACACCCCCCCCCACACACACACCCCCCCCCACACACA CACACACCCCCACACACACACACACCCCCCCCACACACACACACCCCCCC CCCCACACACACACATCCCCCCCCACACACACACACCCCCCCCCCCCACA CACACACATCCCCCCCCACACACACACACATCCCCCCACACACACACACA CATC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0044 a0001c0014t0001g0044	1	88	0.0114	253	c.85+ others(270): Show c.85+80958_85+80959insGATGTGTGTGTGTGTGTGGGGGGATGTG TGTGTGTGTGGGGGGGGATGTGTGTGTGTGGGGGGGGGGGGTGTGTGTGT GTGGGGGGGGATGTGTGTGTGTGGGGGGGGGGGTGTGTGTGTGTGGGGGG GGTGTGTGTGTGTGTGGGGGTGTGTGTGTGTGTGGGGGGGGGTGTGTGTG TGGGGGGGGGTGTGTGTGTGTGGGGGGGGGGTGTGTGTGTGGGGGGGGGT GTGTGTGTGGGGGGGGGTGTGTGTG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DISP3_chr1_11474155_11542551	11522760	G G	GGCCCAGC others(246): Show GGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCA GCCAGGACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGG GCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGACCCAG CCAGGGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGA CCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGC GAGA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0048 a0002c0002t0002g0048	1	358	0.0028	253	c.236 others(272): Show c.2363-1182_2363-1181insGCCCAGCCAGGGCCCAGCCAGGACCC AGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAG GACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCA GCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGG GCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAG CCAGAGCCCAGCCAGGGCCCAGCGAGA	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20			chr1	TogoVar
DNAAF5_chr7_721699_791475	772584	G G	GTATGAAG others(246): Show GTATGAAGCACACCACGGTATGTTTCAAAGGTGGCTCTGGTCTCCAAGAC CAGCTCCACAGCCCGCAGCCCTCCAGCGTCCGTGAAGCCTGCACAGCGTC CCTTCCTCTTCTGGAGGCGCCACCGGCTTGCTCCTGGCAGGGGCCATGTT GGGACCAGCCAGGTAGATGAGCAGATGTGGAAAGTGACGTTGGTGTGGTG TGATTTACACGCATTCCGCGAGGTTTCTGGCGTGGGTTCGTTTTTAAGCA GAGC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0004 a0003c0012t0004	a0003c0012t0004g0055 a0003c0012t0004g0055	1	378	0.0027	253	c.193 others(272): Show c.1932-1464_1932-1463insTATGAAGCACACCACGGTATGTTTCA AAGGTGGCTCTGGTCTCCAAGACCAGCTCCACAGCCCGCAGCCCTCCAGC GTCCGTGAAGCCTGCACAGCGTCCCTTCCTCTTCTGGAGGCGCCACCGGC TTGCTCCTGGCAGGGGCCATGTTGGGACCAGCCAGGTAGATGAGCAGATG TGGAAAGTGACGTTGGTGTGGTGTGATTTACACGCATTCCGCGAGGTTTC TGGCGTGGGTTCGTTTTTAAGCAGAGC	DNAAF5	ENSG00000164818.16	transcript	ENST00000297440.11	protein_coding	9/12			chr7	TogoVar
DPEP1_chr16_89608642_89643433	89634658	C C	CCCCTTCC others(246): Show CCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCC TTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTT CCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCC TTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTC TCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCC CTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp2 HG00673.hp2 others(8): Show HG00408.hp2 HG00558.hp2 HG00673.hp2 HG01261.hp1 HG01975.hp2 HG03927.hp1 NA18975.hp1 NA18999.hp2 NA19000.hp1 NA19011.hp2 NA19084.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0136 a0002c0002t0001g0152 a0002c0002t0001g0153 others(8): Show a0002c0002t0001g0136 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0173 a0002c0002t0001g0175 a0002c0002t0001g0177 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0189 a0002c0002t0001g0200	11	250	0.0440	253	c.105 others(270): Show c.105-1232_105-1231insTTCCTTCTCCTTTCCCTTCCTTCCCTTT CCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCC CTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCT TCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCC TTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCT TCCCTTTCCCTTCCTTCCCTTTCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89634685	T T	TCCTTTCC others(246): Show TCCTTTCCCTTCCTTCTCCTTTCCCTTCCATCCTTTCCCTTCCAACTCCT TTCCCCCTTCCCTTCCAACCATTCCCTTCCTTCCCTTTCCCTTCCTTCTC CTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTT TCCCTCCTACTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCC CCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTC CTTC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	250	0.0040	253	c.105 others(270): Show c.105-1208_105-1207insTCCTTTCCCTTCCATCCTTTCCCTTCCA ACTCCTTTCCCCCTTCCCTTCCAACCATTCCCTTCCTTCCCTTTCCCTTC CTTCTCCTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CTCCTTTCCCTCCTACTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTC CTTTCCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTT CCCTTCCTTCCCTTTCCCTTCCTTC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
EFCAB13_chr17_47318955_47446312	47325026	C C	CCCCCCCC others(246): Show CCCCCCCCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03540.hp2 NA19240.hp1 HG02965.hp2 HG03540.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0255 a0001c0001t0005g0256 a0001c0001t0005g0257 a0001c0001t0005g0255 a0001c0001t0005g0256 a0001c0001t0005g0257	3	356	0.0084	253	c.-24 others(270): Show c.-248+507_-248+508insCCCTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCC	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EIF3B_chr7_2349827_2385745	2378294	G G	GGAGGAAG others(246): Show GGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGATGCTGTGTTCTGTGAATG ACCCTGGGTGTCATGGAGGAAGGAGCAGGCACGAGCGCTCCTGGGATGCT GTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGC TCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAG GAGCAGGCGCGAGCGCTCCTGGGAAGCCGTGTTGTGTGAATGACCCTGGG TGTC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0334 a0001c0003t0001g0334	1	384	0.0026	253	c.215 others(270): Show c.2155-386_2155-385insGCAGGCGCGAGCTCTCCTGGGATGCTGT GTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCACGAGCGC TCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGA GCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTG TCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTGTTGTGTG AATGACCCTGGGTGTCGAGGAAGGA	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2378317	C C	CCTGGGAT others(246): Show CCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAG CAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGT CATGGAGGAAGGAGCAGGCGTGAGCTCTTCTGGGAATCCGTGTTCTGTGA ATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAA GCCGTGTTGTGTGAATGACCCTGGGTGTCGAGGAAGGAGAAGGCGCGAGC ACTG	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0328 a0001c0003t0001g0328	1	384	0.0026	253	c.215 others(270): Show c.2155-357_2155-356insCTGTGAATGACCCTGGGTGTCATGGAGG AAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCT GGGTGTCATGGAGGAAGGAGCAGGCGTGAGCTCTTCTGGGAATCCGTGTT CTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCC TGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGTCGAGGAAGGAGAAGGC GCGAGCACTGCTGGGATGCTGTGTT	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIPR1_chr2_3183970_3382818	3315770	T T	TACCACCA others(246): Show TACCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATC CCCATCCACAGCCCCTACCACCACCATCACCACCATCCCCATCCACAGCC CCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCA TCACCACCATCCCCATCCACAGCCCCTACCACCACCATCACCACCATCCC CATCCACAGCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCC TACC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	250	0.0040	253	c.259 others(272): Show c.259+22246_259+22247insGGTAGGGGGTGTGGATGGGGATGGTG GTGATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGTGATGGTGGTGG TAGGGGCTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGA TGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGT GATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGTGATGGTGGTGGTA GGGGGTGTGGATGGGGATGGTGGTGGT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EYS_chr6_63714980_65712226	64295352	A A	AGGAGGAG others(246): Show AGGAGGAGGAGGAGGAGGAGGAGGAGAAGGAGAAGGAGAAGAAGCAGAAG GAGAAGAAGCAGAAGCAGAAGCAGAAGCAGAAGAAGAAGCAGAAGCAGCA GAAGAAGCAGGAGCAGCAGAAGCAGAAGAAGAAGCAGAAGCAGAAGCAGA AGCAGAAGAAGAAGCAGAAGAAGAAGCAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGCAGCA GCAG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0012 a0012	a0012c0005 a0012c0005	a0012c0005t0001 a0012c0005t0001	a0012c0005t0001g0014 a0012c0005t0001g0014	1	24	0.0417	253	c.619 others(274): Show c.6191+11617_6191+11618insCTGCTGCTGCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTGCTTCTTCTTCTGCTTCTTCTTCTGCTTCTGCTTCTGCTTCTGCTTC TTCTTCTGCTTCTGCTGCTCCTGCTTCTTCTGCTGCTTCTGCTTCTTCTT CTGCTTCTGCTTCTGCTTCTGCTTCTTCTCCTTCTGCTTCTTCTCCTTCT CCTTCTCCTCCTCCTCCTCCTCCTCCTCC	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	30/42			chr6	TogoVar
EYS_chr6_63714980_65712226	65708812	G G	GCTCCCCT others(246): Show GCTCCCCTCCCCCTTCCCTTCCCCCTCCTCTCACCCATTTCCTTCCCTTC CCCCTCAGCTCCCCTCTCCCCTTCCCCCTCTGCTCCCCTCTCCCGTTCCC CCTCCCCTCTTGCCTTCCAGTTCCCCTCCTCCTTTCCCTTCCCCCTCCCC TCCCCACTCCCTTCCCTTGCACCTCCCCTCCCCTTTCTTTTCCCTTCCCT TCCCCCCTCCAACCCTCCAACCCTTCCCTTCCCCTCCTTTCCGCTTCCCT CCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp2 HG02622.hp2 others(9): Show HG02451.hp1 HG02451.hp2 HG02622.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03209.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0010 a0012 a0013 a0014 a0015 a0017 a0020	a0001c0012 a0002c0008 a0003c0002 others(9): Show a0001c0012 a0002c0008 a0003c0002 a0004c0017 a0005c0010 a0010c0003 a0012c0005 a0013c0020 a0014c0004 a0015c0011 a0017c0013 a0020c0015	a0001c0012t0002 a0002c0008t0002 a0003c0002t0002 others(9): Show a0001c0012t0002 a0002c0008t0002 a0003c0002t0002 a0004c0017t0001 a0005c0010t0001 a0010c0003t0001 a0012c0005t0001 a0013c0020t0002 a0014c0004t0002 a0015c0011t0002 a0017c0013t0001 a0020c0015t0002	a0001c0012t0002g0021 a0002c0008t0002g0020 a0003c0002t0002g0019 others(9): Show a0001c0012t0002g0021 a0002c0008t0002g0020 a0003c0002t0002g0019 a0004c0017t0001g0002 a0005c0010t0001g0015 a0010c0003t0001g0016 a0012c0005t0001g0014 a0013c0020t0002g0022 a0014c0004t0002g0024 a0015c0011t0002g0018 a0017c0013t0001g0017 a0020c0015t0002g0023	12	24	0.5000	253	c.-21 others(264): Show c.-2126_-2125insGAGGAGGGAAGCGGAAAGGAGGGGAAGGGAAGGG TTGGAGGGTTGGAGGGGGGAAGGGAAGGGAAAAGAAAGGGGAGGGGAGGT GCAAGGGAAGGGAGTGGGGAGGGGAGGGGGAAGGGAAAGGAGGAGGGGAA CTGGAAGGCAAGAGGGGAGGGGGAACGGGAGAGGGGAGCAGAGGGGGAAG GGGAGAGGGGAGCTGAGGGGGAAGGGAAGGAAATGGGTGAGAGGAGGGGG AAGGGAAGGGGGAGGGGAG	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding		1587		chr6	TogoVar
FAM184B_chr4_17624306_17786621	17735643	G G	GAAAAAGA others(246): Show GAAAAAGAAACCCTTCTCGGGAGGGCAGAGCTGGTGCGGCTGGCCATGGA GAAAGCTGACTTGGCTGGTGTGGTACAGAGAAGCCAGCTTGTTTACATGC TTATTCCATGACTGCTTGCCCTAAGCAGAAAGTGCCTTTCAGGATCTATT TTTGGAGGTTTATTACGTATGTCTGGTTCTCAATTCCAACAGTTTAATGA AGATCTAAATAAAATGCTAGGTTCTACCTTAAAAAAAAAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA19030.hp1 HG03139.hp2 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0015 a0001c0003 a0001c0015	a0001c0003t0018 a0001c0015t0029 a0001c0003t0018 a0001c0015t0029	a0001c0003t0018g0006 a0001c0015t0029g0164 a0001c0003t0018g0006 a0001c0015t0029g0164	2	238	0.0084	253	c.142 others(272): Show c.142-26000_142-25999insTTTTTTTTTTTTTTTTTTTTTTTTAA GGTAGAACCTAGCATTTTATTTAGATCTTCATTAAACTGTTGGAATTGAG AACCAGACATACGTAATAAACCTCCAAAAATAGATCCTGAAAGGCACTTT CTGCTTAGGGCAAGCAGTCATGGAATAAGCATGTAAACAAGCTGGCTTCT CTGTACCACACCAGCCAAGTCAGCTTTCTCCATGGCCAGCCGCACCAGCT CTGCCCTCCCGAGAAGGGTTTCTTTTT	FAM184B	ENSG00000047662.5	transcript	ENST00000265018.4	protein_coding	1/17			chr4	TogoVar

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