Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

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No_samplehapid

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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
LMF2_chr22_50497949_50512702	50504238	C C	CCCCCCCC others(227): Show CCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCC CCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCG GTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCGG TGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGG CCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	414	0.0024	234	c.171 others(251): Show c.1718+101_1718+102insAGGGGGGGTGTGGAGCCCGGGGTGCAGG GGTAAGGCCGGGCACCGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGG CCGGGCACCGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGC CGGGCACCGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGG GCACTGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCG GGGGGG	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
LMF2_chr22_50497949_50512702	50504238	C C	CCCCCCCC others(227): Show CCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCC CCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCC GGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCGG TGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGG CCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02083.hp1 HG03195.hp2 others(3): Show HG01256.hp1 HG02083.hp1 HG03195.hp2 HG03704.hp2 NA18944.hp2 NA18983.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0008 a0001c0002t0001 a0001c0002t0008	a0001c0002t0001g0037 a0001c0002t0001g0110 a0001c0002t0001g0111 others(2): Show a0001c0002t0001g0037 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0313 a0001c0002t0008g0312	6	414	0.0145	234	c.171 others(251): Show c.1718+101_1718+102insAGGGGGGGTGTGGAGCCCGGGGTGCAGG GGTAAGGCCGGGCACCGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGG CCGGGCACCGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCC GGGCACCGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGG CACTGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCG GGGGGG	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
LMF2_chr22_50497949_50512702	50504238	C C	CCCCCCCG others(227): Show CCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCC CAGTGCCCAGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCG GTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCGG TGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGG CCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	414	0.0024	234	c.171 others(251): Show c.1718+101_1718+102insAGGGGGGGTGTGGAGCCCGGGGTGCAGG GGTAAGGCCGGGCACCGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGG CCGGGCACCGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGC CGGGCACCGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCTG GGCACTGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACC GGGGGG	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
LMF2_chr22_50497949_50512702	50504238	C C	CCCCCCCG others(227): Show CCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCC CAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCC GGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCGG TGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGG CCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	414	0.0024	234	c.171 others(251): Show c.1718+101_1718+102insAGGGGGGGTGTGGAGCCCGGGGTGCAGG GGTAAGGCCGGGCACCGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGG CCGGGCACCGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCC GGGCACCGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCG GGCACTGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACC GGGGGG	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
LMF2_chr22_50497949_50512702	50504238	C C	CCCCCCCG others(227): Show CCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCC CAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCG GTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCGG TGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGG CCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp1 HG00642.hp1 others(13): Show HG00280.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG01358.hp2 HG01934.hp2 HG01978.hp2 HG02735.hp2 HG02965.hp1 HG03453.hp2 NA18950.hp1 NA19062.hp2 NA19066.hp2 NA19067.hp1 NA19084.hp2 NA19088.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0009 a0001c0020 others(1): Show a0001c0001 a0001c0009 a0001c0020 a0006c0025	a0001c0001t0001 a0001c0009t0001 a0001c0020t0001 others(1): Show a0001c0001t0001 a0001c0009t0001 a0001c0020t0001 a0006c0025t0001	a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0028 others(6): Show a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0028 a0001c0001t0001g0207 a0001c0001t0001g0234 a0001c0009t0001g0187 a0001c0020t0001g0201 a0006c0025t0001g0323 a0006c0025t0001g0324	16	414	0.0387	234	c.171 others(251): Show c.1718+101_1718+102insAGGGGGGGTGTGGAGCCCGGGGTGCAGG GGTAAGGCCGGGCACCGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGG CCGGGCACCGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGC CGGGCACCGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCG GGCACTGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACC GGGGGG	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
LMF2_chr22_50497949_50512702	50504238	C C	CCCCCCCG others(227): Show CCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCC CAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCGG TGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCCGG TGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGG CCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	414	0.0024	234	c.171 others(251): Show c.1718+101_1718+102insAGGGGGGGTGTGGAGCCCGGGGTGCAGG GGTAAGGCCGGGCACCGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGG CCGGGCACCGGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGG CCGGGCACCGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCG GGCACTGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACC GGGGGG	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
LMF2_chr22_50497949_50512702	50504238	C C	CCCCCCCG others(227): Show CCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCC CCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCG GTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCGG TGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGG CCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18948.hp1 NA18522.hp1 NA18948.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0300 a0001c0002t0001g0301 a0001c0002t0001g0300 a0001c0002t0001g0301	2	414	0.0048	234	c.171 others(251): Show c.1718+101_1718+102insAGGGGGGGTGTGGAGCCCGGGGTGCAGG GGTAAGGCCGGGCACCGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGG CCGGGCACCGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGC CGGGCACCGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGG GCACTGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACC GGGGGG	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
LMF2_chr22_50497949_50512702	50504238	C C	CCCCCCGG others(227): Show CCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCC AGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCG GTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCGG TGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGG CCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03471.hp1 NA20300.hp1 HG01891.hp2 HG03471.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0014 a0001c0002t0001g0014	3	414	0.0073	234	c.171 others(251): Show c.1718+101_1718+102insAGGGGGGGTGTGGAGCCCGGGGTGCAGG GGTAAGGCCGGGCACCGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGG CCGGGCACCGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGC CGGGCACCGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCC GGGCACTGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCAC CGGGGG	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
LMF2_chr22_50497949_50512702	50504238	C C	CCCCCGGT others(227): Show CCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCC CCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCG GTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCGG TGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGG CCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0298 a0001c0002t0001g0298	1	414	0.0024	234	c.171 others(251): Show c.1718+101_1718+102insAGGGGGGGTGTGGAGCCCGGGGTGCAGG GGTAAGGCCGGGCACCGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGG CCGGGCACCGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGC CGGGCACCGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGG GCACCGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCA CCGGGG	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
LMF2_chr22_50497949_50512702	50504238	C C	CCCCGGTG others(227): Show CCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCC CCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCC GGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCAGTGC CCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCGGTGCCCGG CCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0049 a0001c0003t0001g0049	1	414	0.0024	234	c.171 others(251): Show c.1718+101_1718+102insAGGGGGGGTGTGGAGCCCGGGGTGCAGG GGTAAGGCCGGGCACCGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTA AGGCCGGGCACTGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCC GGGCACCGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGG GCACCGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGC ACCGGG	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
LOC128125818_chr4_6059977_6075162	6067649	A A	ACAGGTCA others(227): Show ACAGGTCACCCCCCTGAGCTCCACGTTCACTCAAGCTCTTCTGCACACGC AGGTCACCCCCCTGAGCTCCACGTTCACTCAAGCTCTTCCGCACACACAG GTCACCCCCCTGAGCTCCACGTTCACTCAAGCTCTTCTGCACACGCAGGT CACCCCCCTGAGCTCCACGTTCACTCAAGCTCTTCCGCACACACAGGTCA CCCCCCTGAGCTCCACGTTCACTCAAGCTCTTCTG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0222 a0001c0001t0000g0222	1	462	0.0022	234	c.106 others(251): Show c.106+2407_106+2408insCAGAAGAGCTTGAGTGAACGTGGAGCTC AGGGGGGTGACCTGTGTGTGCGGAAGAGCTTGAGTGAACGTGGAGCTCAG GGGGGTGACCTGCGTGTGCAGAAGAGCTTGAGTGAACGTGGAGCTCAGGG GGGTGACCTGTGTGTGCGGAAGAGCTTGAGTGAACGTGGAGCTCAGGGGG GTGACCTGCGTGTGCAGAAGAGCTTGAGTGAACGTGGAGCTCAGGGGGGT GACCTG	LOC128125818	ENSG00000284684.1	transcript	ENST00000636216.1	protein_coding	1/1			chr4	TogoVar
MADCAM1_chr19_491486_510343	496854	G G	GGGGCGCA others(227): Show GGGGCGCAGGAGAGAGCAGGGGGCGCAGGAGAGAGGAGGGGGCGCGGGAG AGGGGAGGGGGCGCGGGAGAGGGGAGGGGGCTCGGGGGAGAGGAAGGGGC GCGGTGAGCGGGAGGGGACGCGGGAGAGAGGAGGGAGTTAGGAGGGGGCT CAGGAGAGGGGAGGGGGCTCAGTAGAGTGGGGGGGCTCAGGAGAGAGGAG GGACGCAGGAGAGAGGAGGGGCGCAGGGGAGAGGA	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0002 a0004c0003t0002	a0004c0003t0002g0044 a0004c0003t0002g0044	1	364	0.0028	234	c.52+ others(247): Show c.52+318_52+319insCAGGGGGCGCAGGAGAGAGGAGGGGGCGCGGG AGAGGGGAGGGGGCGCGGGAGAGGGGAGGGGGCTCGGGGGAGAGGAAGGG GCGCGGTGAGCGGGAGGGGACGCGGGAGAGAGGAGGGAGTTAGGAGGGGG CTCAGGAGAGGGGAGGGGGCTCAGTAGAGTGGGGGGGCTCAGGAGAGAGG AGGGACGCAGGAGAGAGGAGGGGCGCAGGGGAGAGGAGGGCGCAGGAGAG AG	MADCAM1	ENSG00000099866.16	transcript	ENST00000215637.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
MAN2B2_chr4_6570189_6628362	6579174	C C	CCACCACC others(227): Show CCACCACCACCACCATCACCATCACCAGCACCACCACCATCACCACCACC ACCACCACCACCACCATCACCACCACCACCACCACCATCACCATCACCAC CACCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCA CCACCACCACCACCACCACCACCACCACCACCACCATCACCATCACCACC ACCATCACCACCACCACCACCATCACCATCACCAG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0111 a0002c0002t0001g0111	1	362	0.0028	234	c.391 others(249): Show c.391+681_391+682insCCACCACCATCACCATCACCAGCACCACCA CCATCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACC ATCACCATCACCACCACCACCACCACCACCATCACCACCACCACCACCAC CACCATCACCACCACCACCACCACCACCACCACCACCACCACCACCACCA TCACCATCACCACCACCATCACCACCACCACCACCATCACCATCACCAGC ACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAP3K13_chr3_185358136_185494094	185453934	G G	GATATATA others(227): Show GATATATATGTGATACATATATATGAGATATATATGTGATACATATATAT GAGATATATATGTGATACATATATATGAGATATATATGTGATACATATAT ATGAGATATATATGTGATACATATATATGAGATATATATGTGATACATAT ATATGAGATATATATGTGATACATATATATGAGATATATGTGATACATAT ATATGAGATATATATATGATACATATATATGAGAT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0086 a0001c0001t0013g0086	1	278	0.0036	234	c.127 others(253): Show c.1278+2548_1278+2549insTGATACATATATATGAGATATATATG TGATACATATATATGAGATATATATGTGATACATATATATGAGATATATA TGTGATACATATATATGAGATATATATGTGATACATATATATGAGATATA TATGTGATACATATATATGAGATATATATGTGATACATATATATGAGATA TATGTGATACATATATATGAGATATATATATGATACATATATATGAGATA TATATATG	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
MARCHF1_chr4_163519718_164389019	163836594	T T	TAAAAGAT others(227): Show TAAAAGATGCCTCCTAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGTGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCG GAGATCGCGCCACAGCACTCCAGCCTGGGCGACAAAACGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0072 a0001c0001t0006g0072	1	102	0.0098	234	c.111 others(253): Show c.111+17426_111+17427insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGTTTTGTCGCCCAGGCTGGAGTGCTGTGG CGCGATCTCCGCTCACTGCAAGCTCCGCCTTCCGGGTTCACACCATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCC CGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTAGGAGG CATCTTTT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	4/9			chr4	TogoVar
MBNL1_chr3_152263929_152470780	152336169	C C	CAAAAATG others(227): Show CAAAAATGTAATCTGGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTC CCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCG GAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACA GAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0176 a0001c0001t0004g0176	1	338	0.0030	234	c.174 others(253): Show c.174+35816_174+35817insGACCATCCCGGCTAAAACGGTGAAAC CCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCG CCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACC CGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCC TGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAT GTAATCTG	MBNL1	ENSG00000152601.18	transcript	ENST00000324210.10	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
MBNL3_chrX_132364320_132494038	132396715	C C	CATATATA others(227): Show CATATATATATATTCATATATAGATTCATATATATATTCATATATAGATT CATATATATTCATATATAGATTCATATATATTCATATATAGATTCATATA TATATTCATATATATATTCATATATATTCATATATATATTCATATATATA TTCATATATATATTCATATATATATTCATATATATATTCATATATATATT CATATATATATTCATATATATTCATATATATTCAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0080 a0001c0001t0003g0080	1	191	0.0052	234	c.343 others(251): Show c.343-4382_343-4381insATGAATATATATGAATATATATGAATAT ATATATGAATATATATATGAATATATATATGAATATATATATGAATATAT ATATGAATATATATATGAATATATATATGAATATATATGAATATATATAT GAATATATATATGAATCTATATATGAATATATATGAATCTATATATGAAT ATATATGAATCTATATATGAATATATATATGAATCTATATATGAATATAT ATATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MCC_chr5_113017106_113493453	113333828	T T	TATATATG others(227): Show TATATATGTACATATATGTATATATGTACATATATGTATATATGTACATA TATGTATATATGTACATATATGTATATATGTACATATATGTATATATGTA CATATATGTATATATGTACATATATGTATATATGTACATATATGTATATA TGTACATATATGTATATATGTACATATATGTATATATGTACATATGTACA TATATGTACATATATGTATATATGTACATATGTAC	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0101 a0001c0003t0001g0101	1	160	0.0063	234	c.627 others(251): Show c.627+6690_627+6691insGTACATATGTACATATATACATATATGT ACATATATGTACATATGTACATATATACATATATGTACATATATACATAT ATGTACATATATACATATATGTACATATATACATATATGTACATATATAC ATATATGTACATATATACATATATGTACATATATACATATATGTACATAT ATACATATATGTACATATATACATATATGTACATATATACATATATGTAC ATATAT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113333838	T T	TATATGTA others(227): Show TATATGTATATATGTACATATATGTATATATGTATATATGTATATATGTA CATATATGTATATATGTATATATGTATATATGTACATATATGTACATATA TGTACATATGTACATATATGTACATATATGCATATATGTACACATGTACA TATATGTACATATGTACACATGTACATATATGTACATATATGTACATATA TGTACATATATGTACATATATGTACATATATGTAC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0004 a0004	a0004c0019 a0004c0019	a0004c0019t0004 a0004c0019t0004	a0004c0019t0004g0112 a0004c0019t0004g0112	1	160	0.0063	234	c.627 others(251): Show c.627+6680_627+6681insGTACATATATGTACATATATGTACATAT ATGTACATATATGTACATATATGTACATATATGTACATGTGTACATATGT ACATATATGTACATGTGTACATATATGCATATATGTACATATATGTACAT ATGTACATATATGTACATATATGTACATATATACATATATACATATATAC ATATATGTACATATATACATATATACATATATACATATATGTACATATAT ACATAT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MCF2L_chr13_112964214_113104742	113033219	G G	GAGTGGCC others(227): Show GAGTGGCCCCCGTGACGTGAGTGGCCCCTGTGACATTAGTGGACCCCGTG GCGTGAGTGGCCCCCATGACTTGAGTGGCCCCTGTGATGTGAGTGGCCCC CGTGACGTGAGTGGTCCCCGTGACATTAGTGGCCCCCATGACGTGAGTGG CCCCCATGACGTGAGTGGCCCCCGTGATGTGAGTGGCCCCCGTGATGTGA GTGGCCCCCGTGACATGAGTGGCCCCCGTGACATT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01358.hp1 HG01517.hp2 others(7): Show HG01346.hp1 HG01358.hp1 HG01517.hp2 HG01993.hp2 HG02074.hp2 HG02129.hp2 HG02135.hp2 NA18946.hp1 NA19085.hp1 NA19085.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0002c0017 a0004c0011	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 others(4): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0001c0003t0020 a0001c0005t0001 a0002c0017t0001 a0004c0011t0002	a0001c0001t0001g0024 a0001c0003t0001g0086 a0001c0003t0001g0092 others(7): Show a0001c0001t0001g0024 a0001c0003t0001g0086 a0001c0003t0001g0092 a0001c0003t0002g0019 a0001c0003t0002g0064 a0001c0003t0002g0078 a0001c0003t0020g0089 a0001c0005t0001g0068 a0002c0017t0001g0109 a0004c0011t0002g0090	10	116	0.0862	234	c.278 others(251): Show c.278+8488_278+8489insTGTGACATTAGTGGACCCCGTGGCGTGA GTGGCCCCCATGACTTGAGTGGCCCCTGTGATGTGAGTGGCCCCCGTGAC GTGAGTGGTCCCCGTGACATTAGTGGCCCCCATGACGTGAGTGGCCCCCA TGACGTGAGTGGCCCCCGTGATGTGAGTGGCCCCCGTGATGTGAGTGGCC CCCGTGACATGAGTGGCCCCCGTGACATTAGTGGCCCCCGTGACGTGAGT GGCCCC	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MED16_chr19_862963_898187	873127	G G	GGGGGAGG others(227): Show GGGGGAGGGCTCCGAGGGAGGGCAGGGCTCCGAGGTGGGGCAGGGCTCCG AGGTGGGGGAGGGCTCCGAGGTGGGGGAGGGCTCCGAGGTGGGGGAGGGC TCCGAGGTGGGGCAGGGCTCCGAGGTGGGGGAGGGCTCCGAGGGAGGGGA GGGCTCCGAGGGAGGGGAGGGCTCCGAGGTGGGGGAGGGCTCCGAGGTGG GGGAGGGCTCCGAGGTGGGGGAGGGCTCCGAGGGA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0021 a0001c0002t0002g0021	1	56	0.0179	234	c.190 others(251): Show c.1905+321_1905+322insTCCCTCGGAGCCCTCCCCCACCTCGGAG CCCTCCCCCACCTCGGAGCCCTCCCCCACCTCGGAGCCCTCCCCTCCCTC GGAGCCCTCCCCTCCCTCGGAGCCCTCCCCCACCTCGGAGCCCTGCCCCA CCTCGGAGCCCTCCCCCACCTCGGAGCCCTCCCCCACCTCGGAGCCCTCC CCCACCTCGGAGCCCTGCCCCACCTCGGAGCCCTGCCCTCCCTCGGAGCC CTCCCC	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	11/15			chr19	TogoVar
MEGF6_chr1_3482951_3616508	3583288	A A	ACAGCCAC others(227): Show ACAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACA ACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCA GACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCC ACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGC AGCCACCAGACAACCCGCAGCCACCAGACAACGCG	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0030 a0030	a0030c0043 a0030c0043	a0030c0043t0018 a0030c0043t0018	a0030c0043t0018g0117 a0030c0043t0018g0117	1	292	0.0034	234	c.377 others(251): Show c.377-3360_377-3359insCGCGTTGTCTGGTGGCTGCGGGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTG GGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGG TGGCTG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583504	G G	GCAGCCAC others(227): Show GCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACA ACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACCCGCAGCCACCA GACAACGCGCAGCCACCAGACAACGCACAGCCACCAGACAACGCGCAGCC ACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACCCAC AGCCACCAGACAACCCACAGCCACCAGACAACCCA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0024 a0024	a0024c0072 a0024c0072	a0024c0072t0013 a0024c0072t0013	a0024c0072t0013g0252 a0024c0072t0013g0252	1	292	0.0034	234	c.377 others(251): Show c.377-3576_377-3575insTGGGTTGTCTGGTGGCTGTGGGTTGTCT GGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGG TGGCTG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583558	G G	GCAGCCAC others(227): Show GCAGCCACCAGACAACACGCAGCCACCAGACAACCCACAGCCACCAGACA ACCCACAGCCACCAGACAACCCGCAGCCACCAGACAACCCACAGCCACCA GACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCC ACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACCCAC AGCCACCAGACAACGCACAGCCACCAGACAACGCA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0010 a0001c0007t0010	a0001c0007t0010g0241 a0001c0007t0010g0241	1	292	0.0034	234	c.377 others(251): Show c.377-3630_377-3629insTGCGTTGTCTGGTGGCTGTGCGTTGTCT GGTGGCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGC TGTGGGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGTGTTGTCTGG TGGCTG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MICAL3_chr22_17782649_18029561	17876739	T T	TGGAGGTT others(227): Show TGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAG GTGAGGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAT GGCAGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGATTATGGAGG TTAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTGAGG GAGGTTATGGAGGTTAGGGAGGTTATGGAGGTGAG	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0211 a0003c0004t0001g0211	1	274	0.0037	234	c.224 others(253): Show c.2242-4717_2242-4716insCTCACCTCCATAACCTCCCTAACCTC CATAACCTCCCTCACCTCCATAACCTCCATAACTTCCCTAACCTCCATAA CCTCCCTAACCTCCATAATCTCCCTAACCTCCATAACCTCCCTCACCTCC ATAACTGCCATAACCTCCATAACTTCCCTAACCTCCCTAACCTCCCTAAC CTCCCTCACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCA TAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17876811	G G	GGGAGGTT others(227): Show GGGAGGTTATGGAGGTTAGAGAAGTTATGGAGGTTAGGGAGGTTATGAAG GTTAGGGAGGTTACGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAT GGAGGTTAGGGAGGTTATGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGG TTAAGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATG GAGGTTATGGCAGTTATGGAGGTTAGGGAGATTAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0061 a0001c0061	a0001c0061t0002 a0001c0061t0002	a0001c0061t0002g0260 a0001c0061t0002g0260	1	274	0.0037	234	c.224 others(253): Show c.2242-4789_2242-4788insATAATCTCCCTAACCTCCATAACTGC CATAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAA CCTCCTTAACCTCCCTAACCTCCATAAGCTCCCTAACCTCCATAACCTCC CTAACCTCCATAACCTCCATAACTTCCCTAACCTCCCTAACCTCCGTAAC CTCCCTAACCTTCATAACCTCCCTAACCTCCATAACTTCTCTAACCTCCA TAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17876946	T T	TGGAGGTT others(227): Show TGGAGGTTAGAGAAGTTATGGAGGTTAGGGAGGTTATGAAGGTTAGGGAG GTTACGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAG GGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTATGGAGG TTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGAGAAGTTATG GAGGTTAGGGAGGTTATGAAGGTTAGGGAGGTTAC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0217 a0001c0002t0001g0217	1	274	0.0037	234	c.224 others(253): Show c.2242-4924_2242-4923insGTAACCTCCCTAACCTTCATAACCTC CCTAACCTCCATAACTTCTCTAACCTCCATAACCTCCCTCACCTCCATAA CCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACTTCCCTAACCTCC ATAACCTCCCTAACCTCCATAACCTCCATAACTTCCCTAACCTCCATAAC CTCCGTAACCTCCCTAACCTTCATAACCTCCCTAACCTCCATAACTTCTC TAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877054	G G	GGGAGGTT others(227): Show GGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGCTTATGGAG GTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAT GGAGGTGAGGGAGGTTATGGAGGTGAGGGAGGTTAGGGAGGTTAGGGAGG TTATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTGAGG GAGGTTAGGGAGGTTAGGGAGATTATGGAGGTTAT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0003 a0003	a0003c0021 a0003c0021	a0003c0021t0001 a0003c0021t0001	a0003c0021t0001g0219 a0003c0021t0001g0219	1	274	0.0037	234	c.224 others(253): Show c.2242-5032_2242-5031insATAACCTCCATAATCTCCCTAACCTC CCTAACCTCCCTCACCTCCATAACCTCCCTCACCTCCATAACCTCCCTAA CCTCCATAACCTCCCTAACCTCCCTAACCTCCCTCACCTCCATAACCTCC CTCACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAAC CTCCCTAACCTCCATAAGCTCCCTAACCTCCCTAACCTCCATAACTTCCC TAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877238	G G	GATTATGG others(227): Show GATTATGGAGGTTAGGGAGGTTAAGGAGGTTAGGGAAGTTATGGAGGTTA GGGAGGTTAGGGAGGTTATGGAGGTTATGGCAGTTATGGAGGTTAGGGAG ATTATGGAGGTTAGGGAGGTTAAGGAGGTTAGGGAAGTTATGGAGGTTAG GGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGCAG TTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0071 a0005c0008t0001g0071	1	274	0.0037	234	c.224 others(253): Show c.2242-5216_2242-5215insTTCCCTAACCTCCATAATCTCCCTAA CCTCCATAACTGCCATAACCTCCATAACTTCCCTAACCTCCATAACCTCC CTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCTTAACCTCCCTAAC CTCCATAATCTCCCTAACCTCCATAACTGCCATAACCTCCATAACCTCCC TAACCTCCCTAACCTCCATAACTTCCCTAACCTCCTTAACCTCCCTAACC TCCATAAT	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877396	G G	GAGAAGTT others(227): Show GAGAAGTTATGGAGGTTAGGGAGGTTATGAAGGTTAGGGAGGTTACGGAG GTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTTAG GGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGG TTAGGGAGGTTAGGGAGGTTATGGAGGTTAGAGAAGTTATGGAGGTTAGG GAGGTTATGAAGGTTAGGGAGGTTACGGAGGTTAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0179 a0001c0002t0001g0179	1	274	0.0037	234	c.224 others(253): Show c.2242-5374_2242-5373insATAACCTCCGTAACCTCCCTAACCTT CATAACCTCCCTAACCTCCATAACTTCTCTAACCTCCATAACCTCCCTAA CCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACTTCC CTAACCTCCCTAACCTCCCTAACCTCCATAACCTCCATAACTTCCCTAAC CTCCATAACCTCCGTAACCTCCCTAACCTTCATAACCTCCCTAACCTCCA TAACTTCT	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877504	T T	TGAAGGTT others(227): Show TGAAGGTTAGGGAGGTTACGGAGGTTATGGAGGTTAGGGAAGTTATGGAG GTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTATGGCAGTTAT GGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAG TTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTATGGAGGTGAGG GAGGTTATGGAGGTTAGGGAGGTTATGGAGGTGAG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0016 a0016	a0016c0032 a0016c0032	a0016c0032t0002 a0016c0032t0002	a0016c0032t0002g0105 a0016c0032t0002g0105	1	274	0.0037	234	c.224 others(253): Show c.2242-5482_2242-5481insCTCACCTCCATAACCTCCCTAACCTC CATAACCTCCCTCACCTCCATAACCTCCATAACCTCCCTAACCTCCATAA CCTCCATAACTTCCCTAACCTCCATAACCTCCCTAACCTCCATAATCTCC CTAACCTCCATAACTGCCATAACCTCCATAACTTCCCTAACCTCCCTAAC CTCCATAACCTCCATAACTTCCCTAACCTCCATAACCTCCGTAACCTCCC TAACCTTC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877531	G G	GGGAGGTT others(227): Show GGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAG GTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAG GGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAG TTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGG GAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	274	0.0037	234	c.224 others(253): Show c.2242-5509_2242-5508insATAACCTCCATAACCTCCCTCACCTC CATAACCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAA CCTCCATAACTTCCCTAACCTCCCTAACCTCCATAACCTCCCTCACCTCC ATAACCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAAC CTCCATAACCTCCCTAACCTCCATAATCTCCCTAACCTCCATAACCTCCC TAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MPG_chr16_73225_90846	82247	G G	GCTCCCCC others(227): Show GCTCCCCCGGCGCTGACCCCTTCTTCCCACCACCCTACCTCCAGGAAGGC CTCCTGAATGCTCCCCCGGCGCTGACCCCTTCTTCCCACCACCCTACCTC CGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACC CTACCTCCGGGAAGGCCTCCTGAATGCTCCCCCGGCGCTGACCCCTTCTT CCCACCACCCTACCTCCGGGAAGGCCTCCTGAATA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	442	0.0023	234	c.301 others(249): Show c.301-794_301-793insCTGACCCCTTCTTCCCACCACCCTACCTCC AGGAAGGCCTCCTGAATGCTCCCCCGGCGCTGACCCCTTCTTCCCACCAC CCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTC CCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCCGGCGCTGAC CCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATACTCCCCC GGCG	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767791	G G	GTGCGTGG others(227): Show GTGCGTGGGGGGGCACGTGGAGGGGGGGCGTGTGGGGGGGTGCGTGGAGG AGGGGCGCGCGGAGGGGGGCGCGTGGAGGGGGCGCGTGGAGGGGGGCGCG TGGAGGGGGGGCGAGTGGAGGGGGGCGCGTGGAGGGGGGGCGAGTGGAGG GGGGCGCGTGGAGGGGGCCGCGTGGGGGGGCGTGGAGGAGGGGCGCGCGG AGGGGGGCGCGTGGAGGGGGCGCGTGGAGGGGGGC	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA18906.hp1 NA19043.hp2 HG02451.hp2 NA18906.hp1 NA19043.hp2	a0006 a0021 a0006 a0021	a0006c0007 a0021c0043 a0006c0007 a0021c0043	a0006c0007t0001 a0021c0043t0001 a0006c0007t0001 a0021c0043t0001	a0006c0007t0001g0008 a0006c0007t0001g0023 a0021c0043t0001g0008 a0006c0007t0001g0008 a0006c0007t0001g0023 a0021c0043t0001g0008	3	388	0.0077	234	c.159 others(251): Show c.1596+321_1596+322insTGCGTGGGGGGGCACGTGGAGGGGGGGC GTGTGGGGGGGTGCGTGGAGGAGGGGCGCGCGGAGGGGGGCGCGTGGAGG GGGCGCGTGGAGGGGGGCGCGTGGAGGGGGGGCGAGTGGAGGGGGGCGCG TGGAGGGGGGGCGAGTGGAGGGGGGCGCGTGGAGGGGGCCGCGTGGGGGG GCGTGGAGGAGGGGCGCGCGGAGGGGGGCGCGTGGAGGGGGCGCGTGGAG GGGGGC	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17			chr16	TogoVar
MSLN_chr16_755734_773862	767987	G G	GGGGGGCG others(227): Show GGGGGGCGCGTGGGGGTGCGTGGGGGGGCACGTGGAGGGGGGGCGTGTGG GGGGGTGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGGCGCGTG GAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGGCG CGTGGAGGGGGGGCGAGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGG GGCGTGGAGGGGGGTGCGTGGAGGGGGCGCGTGGA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG02615.hp1 HG01069.hp2 HG01071.hp1 HG02615.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0014 a0006c0007t0001g0258 a0006c0007t0001g0014 a0006c0007t0001g0258	3	388	0.0077	234	c.159 others(251): Show c.1597-380_1597-379insGGGTGCGTGGGGGGGCACGTGGAGGGGG GGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGG GGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGA GGGGGGGCGCGTGGAGGGGGGGCGAGTGGAGGGGGGCGCGTGGGGGGGGC GCATGGGGGGGCGTGGAGGGGGGTGCGTGGAGGGGGCGCGTGGAGGGGGC GCGTGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	769170	G G	GCCCCGGC others(227): Show GCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGC CCCACCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCACCCCCGGCCC CGGCCCCACCCCCACCCCCAGCCCCGGCCCCACCCCCGGCCCCAGCCCCG GCCCCACCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCGGCCCCGGC CCCGGCCCCACCCCCGGCCCCGGCCCCGGCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0352 a0003c0004t0003g0352	1	388	0.0026	234	c.43 others(243): Show c.437_*438insCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCGG CCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCC CCACCCCCGGCCCCGGCCCCACCCCCACCCCCAGCCCCGGCCCCACCCCC GGCCCCAGCCCCGGCCCCACCCCCGGCCCCGGCCCCACCCCCGGCCCCGG CCCCGGCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCGGCCCCAC	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding		309		chr16	TogoVar
MSR1_chr8_16102881_16197651	16189595	A A	ATATATAT others(227): Show ATATATATAAAATCTTTATATATATTTTATATATATAAAATCTTTATATA TATTTTATATATATAAAATCTTTATATATATTTTATATATATAAAATCTT TATATATATTTTATATATATAAAATCTTTATATATATTTTATATATATAA AATCTTACTTTATATATATTTTATATATATAAAATCTTACTTTATATATA TTTTATATATATAAAATCTTACTTTATATATATTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA19030.hp2 NA19043.hp1 HG01109.hp1 NA19030.hp2 NA19043.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0007 a0004c0005t0008 a0001c0001t0007 a0004c0005t0008	a0001c0001t0007g0076 a0004c0005t0008g0070 a0004c0005t0008g0071 a0001c0001t0007g0076 a0004c0005t0008g0070 a0004c0005t0008g0071	3	330	0.0091	234	c.-5+ others(249): Show c.-5+3002_-5+3003insAAATATATATAAAGTAAGATTTTATATATA TAAAATATATATAAAGTAAGATTTTATATATATAAAATATATATAAAGTA AGATTTTATATATATAAAATATATATAAAGATTTTATATATATAAAATAT ATATAAAGATTTTATATATATAAAATATATATAAAGATTTTATATATATA AAATATATATAAAGATTTTATATATATAAAATATATATAAAGATTTTATA TATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MTERF3_chr8_96234402_96266610	96250678	A A	AAGGAGAA others(227): Show AAGGAGAAGAAGGAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGGAGAAGAAGGAGAAGAAGGAGGAGAAGAAGGAGA AGAAGGAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGGAGGAGGAGGAGG	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	294	0.0034	234	c.677 others(249): Show c.677+227_677+228insCCTCCTCCTCCTCCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTC CTTCTTCTCCTTCTTCTCCTCCTTCTTCTCCTTCTTCTCCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCTTC TCCT	MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7			chr8	TogoVar
MUC4_chr3_195741771_195816929	195767737	C C	CACCACCA others(227): Show CACCACCATCGCCACCACCATCATCACCATCACCATCACCACCACCATCA TCACCACCATCACCACCACCACCATCATCACCATCACCATTACCATTGCC ACCACCATCACCACCACCATCACCACCACCACCATCATCACCATTGCCAC CACCATCACCACCATCACCACCACCATCGCCACCACCACCACCACCACCA TCACCATCACCACCATCACTGCCACCCCCAACACT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02004.hp1 HG02083.hp2 others(2): Show HG00609.hp2 HG02004.hp1 HG02083.hp2 NA18990.hp1 NA19011.hp1	a0098 a0124 a0125 others(2): Show a0098 a0124 a0125 a0126 a0172	a0098c0027 a0124c0080 a0125c0082 others(2): Show a0098c0027 a0124c0080 a0125c0082 a0126c0081 a0172c0050	a0098c0027t0001 a0124c0080t0001 a0125c0082t0001 others(2): Show a0098c0027t0001 a0124c0080t0001 a0125c0082t0001 a0126c0081t0001 a0172c0050t0001	a0098c0027t0001g0199 a0124c0080t0001g0201 a0125c0082t0001g0200 others(2): Show a0098c0027t0001g0199 a0124c0080t0001g0201 a0125c0082t0001g0200 a0126c0081t0001g0202 a0172c0050t0001g0203	5	249	0.0201	234	c.135 others(253): Show c.13530-987_13530-986insAGTGTTGGGGGTGGCAGTGATGGTGG TGATGGTGATGGTGGTGGTGGTGGTGGTGGCGATGGTGGTGGTGATGGTG GTGATGGTGGTGGCAATGGTGATGATGGTGGTGGTGGTGATGGTGGTGGT GATGGTGGTGGCAATGGTAATGGTGATGGTGATGATGGTGGTGGTGGTGA TGGTGGTGATGATGGTGGTGGTGATGGTGATGGTGATGATGGTGGTGGCG ATGGTGGT	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	7/24			chr3	TogoVar
MYCBP2_chr13_77039657_77332094	77174910	T T	TAATATAT others(227): Show TAATATATATTATATATATAATATATAATATATATAATATATATTATATA TATAATATATTATATATATAATATATATTATATATATAATATATAATATA TATTATATATATAATATATATTATATATATAATATATATTATATATATAA TATATAATATATATTATATATATAATATATTATATATATAATATATATTA TATATATAATATATATTATATATATTTTAAATATA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03225.hp1 HG03041.hp2 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0071 a0001c0003t0001g0072 a0001c0003t0001g0071 a0001c0003t0001g0072	2	334	0.0060	234	c.547 others(251): Show c.5473-422_5473-421insTATATTTAAAATATATATAATATATATT ATATATATAATATATATTATATATATAATATATTATATATATAATATATA TTATATATTATATATATAATATATATTATATATATAATATATATTATATA TATAATATATATTATATATTATATATATAATATATATTATATATATAATA TATTATATATATAATATATATTATATATATTATATATTATATATATAATA TATATT	MYCBP2	ENSG00000005810.20	transcript	ENST00000544440.7	protein_coding	36/82			chr13	TogoVar
MYCBP2_chr13_77039657_77332094	77174919	T T	TTATATAT others(227): Show TTATATATATAATATATAATATATATAATATATAATATATAATATATATA ATATATAATATATAATATATATAATATATTATAATATATATTATATATTA TATATTATATATAATATATATTATATATTATATATAATATATAATATATA TTATATATATAATATATATTATATATATTTTAAATATATATAATATATAT TATATATATATAATATATATATATTTTATATATTA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0001 a0001c0036t0001	a0001c0036t0001g0291 a0001c0036t0001g0291	1	334	0.0030	234	c.547 others(251): Show c.5473-431_5473-430insTAATATATAAAATATATATATATTATAT ATATATAATATATATTATATATATTTAAAATATATATAATATATATTATA TATATAATATATATTATATATTATATATAATATATAATATATATTATATA TAATATATAATATATAATATATATTATAATATATTATATATATTATATAT TATATATTATATATATTATATATTATATATTATATATATTATATATTATA TATATA	MYCBP2	ENSG00000005810.20	transcript	ENST00000544440.7	protein_coding	36/82			chr13	TogoVar
NAALADL2_chr3_174854334_175815548	175698143	A A	ATGTATGT others(227): Show ATGTATGTATACATATATATGTGTATATGTGTATGTATACATATATATGT GTATGTATACATATATATGTGTATGTATACATATATGTGTATGTATACAT ATATGTGTATGTATACATATATGTGTATGTATACATATATATGTGTATAT GTGTATGTATACATATATATGTGTATATGTGTATGTATACATATATATGT GTATATGTGTATGTATACATATATATGTGTATATG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0015	1	64	0.0156	234	c.189 others(255): Show c.1897-39136_1897-39135insGTGTATGTATACATATATATGTGT ATGTATACATATATATGTGTATGTATACATATATGTGTATGTATACATAT ATGTGTATGTATACATATATGTGTATGTATACATATATATGTGTATATGT GTATGTATACATATATATGTGTATATGTGTATGTATACATATATATGTGT ATATGTGTATGTATACATATATATGTGTATATGTGTATGTATACATATAT ATGTGTATAT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NCAPG2_chr7_158626169_158709804	158667732	C C	CTACTGGG others(227): Show CTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTC CTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCT CCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACT GGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTA CCCACTACTGGGTCCCTCCGCCCGCCTTACCCACT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	378	0.0027	234	c.148 others(253): Show c.1480-2983_1480-2982insAGTGGGTAAGGCGGGCGGAGGGACCC AGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCG GAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAA GGCGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTA GTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGG ACCCAGTA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCAPH2_chr22_50503224_50529780	50504238	C C	CCCCCCCC others(227): Show CCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCC CCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCC GGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCGG TGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGG CCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	384	0.0026	234	c.-41 others(245): Show c.-4100_-4099insCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCC GGGCTCCACACCCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTC CACACCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCAC ACCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACAC CCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding		3985		chr22	TogoVar
NCAPH2_chr22_50503224_50529780	50504238	C C	CCCCCCCC others(227): Show CCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCC CCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCC GGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCGG TGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGG CCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG02148.hp1 HG02148.hp2 others(3): Show HG00738.hp2 HG02148.hp1 HG02148.hp2 NA18992.hp1 NA18992.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0032 a0001c0001t0001g0118	6	384	0.0156	234	c.-41 others(245): Show c.-4100_-4099insCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCG GGCTCCACACCCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCC ACACCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCAC ACCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACAC CCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding		3985		chr22	TogoVar
NCAPH2_chr22_50503224_50529780	50504238	C C	CCCCCCCC others(227): Show CCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCC CCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCG GTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCACCCCCCCCCGG TGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGG CCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	384	0.0026	234	c.-41 others(245): Show c.-4100_-4099insCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCG GGCTCCACACCCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCC ACACCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACA CCCACCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACAC CCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding		3985		chr22	TogoVar
NCAPH2_chr22_50503224_50529780	50504238	C C	CCCCCCCC others(227): Show CCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCC CCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCG GTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCGG TGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGG CCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG01515.hp2 HG00558.hp1 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0012t0001 a0001c0001t0001 a0001c0012t0001	a0001c0001t0001g0096 a0001c0012t0001g0001 a0001c0001t0001g0096 a0001c0012t0001g0001	2	384	0.0052	234	c.-41 others(245): Show c.-4100_-4099insCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCG GGCTCCACACCCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCC ACACCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACA CCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACAC CCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding		3985		chr22	TogoVar
NCAPH2_chr22_50503224_50529780	50504238	C C	CCCCCCCC others(227): Show CCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCC CCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCC GGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCGG TGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGG CCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG02083.hp1 HG03195.hp2 others(3): Show HG01256.hp2 HG02083.hp1 HG03195.hp2 HG03704.hp1 NA18944.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0010 a0001c0001t0001g0035 a0001c0001t0001g0043 others(3): Show a0001c0001t0001g0010 a0001c0001t0001g0035 a0001c0001t0001g0043 a0001c0001t0001g0100 a0001c0001t0001g0141 a0001c0001t0002g0022	6	384	0.0156	234	c.-41 others(245): Show c.-4100_-4099insCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCG GGCTCCACACCCCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTC CACACCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCAC ACCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACAC CCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding		3985		chr22	TogoVar
NCAPH2_chr22_50503224_50529780	50504238	C C	CCCCCCCG others(227): Show CCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCC CAGTGCCCAGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCG GTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCGG TGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGG CCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	384	0.0026	234	c.-41 others(245): Show c.-4100_-4099insCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGG GCTCCACACCCCCCCCAGTGCCCAGCCTTACCCCTGCACCCCGGGCTCCA CACCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACA CCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACAC CCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding		3985		chr22	TogoVar
NCAPH2_chr22_50503224_50529780	50504238	C C	CCCCCCCG others(227): Show CCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCC CAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCC GGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCGG TGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGG CCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	384	0.0026	234	c.-41 others(245): Show c.-4100_-4099insCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGG GCTCCACACCCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCA CACCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCAC ACCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACAC CCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding		3985		chr22	TogoVar

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