Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
FOXK2_chr17_82514732_82609602	82586259	G G	GGGAAAGG others(521): Show GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGG GAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGAGGGGA AAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGAAA GGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGAGGGGAAAGG AGGAGAGGGGGGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGAAAGGAG GAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAAAGGAGGA GAGGGGGGACCACAGGGAGGTGAAAGGTGGGCGGAGGGGAAAGGAGGAGA GGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGAAAGGAGGAGAGG GGAGACCACAGGGAGGTGAAAGGTGGCCGGGGGGGAAAGGAGGAGAGGGG AGACCACAGGGAGGTGAAAGGTGGGCAGT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0225 a0001c0001t0007g0225	1	308	0.0033	528	c.157 others(543): Show c.1576+61_1576+62insAAAGGAGGAGAGGGGAGACCACAGGGAGGT GAAAGGTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTC AAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGA AAGGTGGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAA GGTGGGCAGTGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGG TGGGCGGAGGGGAAAGGAGGAGAGGGGGGACCACAGGGAGGTGAAAGGTG GGCAGTGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGG CGGGGGGGAAAGGAGGAGAGGGGGGACCACAGGGAGGTGAAAGGTGGGCG GAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGT GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGCCGGGGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGG		FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8					INFO_REALIGN_3_PRIME	chr17	TogoVar
GABRG3_chr15_26966181_27546984	27388091	G G	GAGGAAAG others(521): Show GAGGAAAGGGAGGGAGGGAAAAGAAGGAAGGAAGGAAAGGAGGGAGGGAG GGTAAGGAAGGAAGGAAGGAAAGGAGGAAGGAAGGAAAGGAGGGAGGGAG GGTAAGGAAGGAAGGAAGAAAGGAAGGAAGGAAGGAAAGGAGGGAGGGAG GGTAAGGAAGGAAGGAAGGAAAGGAGGAAGGAAGGAAAGGGAGGAGGGAG GGAGGAAAGGAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGAA GAAAAGAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGAAGGAA AGGAGGAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGAAGAAA AGAAGGAAGGAAAGGGAGGAGGGAAAAGAAGGAAGGAAGGAAAGGAGGGA GGGAGGGTAAGGAAGGAAGGAAGAAAGGAAGGAAGGAAGGAAAGGAGGGA GGGAGGGTAAGGAAGGAAGGAAGAAAGGAAGGAAGGAAGGAAAGGAGGGA GGGAGGGGAAGGAAGGAAGAAAAGAAGGA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	92	0.0109	528	c.574 others(547): Show c.574+59270_574+59271insGAAAGGAGGAAGGAAGGAAAGGAGGG AGGGAGGGTAAGGAAGGAAGGAAGAAAGGAAGGAAGGAAGGAAAGGAGGG AGGGAGGGTAAGGAAGGAAGGAAGGAAAGGAGGAAGGAAGGAAAGGGAGG AGGGAGGGAGGAAAGGAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGG AAGGAAGAAAAGAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGG AAGGAAAGGAGGAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGG AAGAAAAGAAGGAAGGAAAGGGAGGAGGGAAAAGAAGGAAGGAAGGAAAG GAGGGAGGGAGGGTAAGGAAGGAAGGAAGAAAGGAAGGAAGGAAGGAAAG GAGGGAGGGAGGGTAAGGAAGGAAGGAAGAAAGGAAGGAAGGAAGGAAAG GAGGGAGGGAGGGGAAGGAAGGAAGAAAAGAAGGAAGGAAAGGGAGGGAG GGAAAAGAAGGAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGA AG		GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr15	TogoVar
GAS6_chr13_113815549_113869076	113817329	G G	GGGACACA others(521): Show GGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCCCCACGG GACACATCCCTCCTCCCCCCACGGGACACATCCCCCCTCCCTCCAGGGGA CACATCCCCTCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACA CATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCAGGGGACACA TCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCCACGGGACACATC CCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCCC CCCTCCCCCCACGGGACACATACCCCCTCCCTCCAGGGGACACATCCCCC CTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCCCT CCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCC CTCCAGGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCT CCAGGGGACACATCCCCCCTCCCCCCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	143	0.0070	528	c.35 others(539): Show c.3534_*3535insTGTGGGGGGAGGGGGGATGTGTCCCCTGGAGGGA GGGGGGATGTGCCCCGAGGAGGGAGGGGGGATGTGTCCCCTGGAGGGAGG GGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGG GGATGTGTCCCCTGGAGGGAGGGGGGATGTGCCCCGAGGAGGGAGGGGGG ATGTGTCCCCTGGAGGGAGGGGGTATGTGTCCCGTGGGGGGAGGGGGGAT GTGTCCCGTGGGGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGGATGT GTCCCGTGGGGGGAGGGGGGATGTGTCCCGAGGAGGGAGGGGGGATGTGT CCCCTGGAGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCC CGTGGGGGGAGGGGGGATGTGTCCCCTGGAGGGAGAGGGGATGTGTCCCC TGGAGGGAGGGGGGATGTGTCCCGTGGGGGGAGGAGGGATGTGTCCCGTG GGGGGAGGGGGTATGTGTCCCGTGGGGGGAGGGGGGATGTGTCC		GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding					3219		chr13	TogoVar
GLB1L3_chr11_134271379_134324564	134308440	C C	CCACCACC others(521): Show CCACCACCACCACCAAATACCACCACCACCACCATGTCCACCACCACTAC CACCACCATCACCATCACCATCACCACCACCACCACCACCATCACCACCA AATACCACCACCACCACCATGTCCACCACCACTACCACCACCATCACCAT CACCATCACCACTACCACCACCACCAGCACCACCACCATCACCATCATCA CCATCACCACTACCACCACCACCACCACCACCACCATCACCACCATCACC ACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCACCAC CACCACCACCACCACCAAATACCACCACCACCACCATGTCCACCACCACT ACCACCACCATCACCATCACCATCACCACCACCACCACCACCACCATCAC CATCACCACCACCACCACCATCACCACCACCACCACCATCACCACCACCA CCACCACCACCATCACCATCACCACCACCACCACCATCACCACCACCACC ACCATCACCACCACCACCATCACCACCAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0295 a0001c0002t0002g0295	1	422	0.0024	528	c.962 others(545): Show c.962-1181_962-1180insCCACCACCAAATACCACCACCACCACCA TGTCCACCACCACTACCACCACCATCACCATCACCATCACCACCACCACC ACCACCATCACCACCAAATACCACCACCACCACCATGTCCACCACCACTA CCACCACCATCACCATCACCATCACCACTACCACCACCACCAGCACCACC ACCATCACCATCATCACCATCACCACTACCACCACCACCACCACCACCAC CATCACCACCATCACCACCATCACCATCATCACCATCACCACCACCACCA CCATCACCACCACCACCACCACCACCACCACCAAATACCACCACCACCAC CATGTCCACCACCACTACCACCACCATCACCATCACCATCACCACCACCA CCACCACCACCATCACCATCACCACCACCACCACCATCACCACCACCACC ACCATCACCACCACCACCACCACCACCATCACCATCACCACCACCACCAC CATCACCACCACCACCACCATCACCACCACCACCATCACCACCATCACCA		GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
GP6_chr19_55008705_55043264	55033052	T T	TAGACGCG others(521): Show TAGACGCGGCGGGCTCGTTCGTGTTAGACGCGGCGGGCTCGTTCGTGTTA GACGCGGCGGGTTCGTTCGTGTTAGACGCGGCGGGCTCGTTCGTGTTAGA CGCGGTGGGCTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACG CGGTGGGCTCGTTGGTGTTAGACGCGGTGGGTTCGTTCGTGTTAGACGCG GAGGGTTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGT GGGTTCGTTCGTGTTAGACGCGGAGGGTTCGTTCGTGTTAGACGCGGTGG ACTCGTTCGTGTTAGACGCGGTGGATTCGTTCGTGTTAGACGCGGTGGGC TCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGAGGGTTC GTTCGTGTTAGACGCGGTGGACTCGTTCGTGTTAGACGCGGTGGGTTCGT TCGTGTTAGACGCGGTGGACTCGTTCGTGTTGTGTTAGACGCGGTGGACT CGTTCGTGTTAGACACGGTGGACTCGTTC	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	441	0.0023	528	c.35- others(541): Show c.35-515_35-514insGAACGAGTCCACCGTGTCTAACACGAACGAGT CCACCGCGTCTAACACAACACGAACGAGTCCACCGCGTCTAACACGAACG AACCCACCGCGTCTAACACGAACGAGTCCACCGCGTCTAACACGAACGAA CCCTCCGCGTCTAACACGAACGAGCCCACCGCGTCTAACACGAACGAGCC CACCGCGTCTAACACGAACGAATCCACCGCGTCTAACACGAACGAGTCCA CCGCGTCTAACACGAACGAACCCTCCGCGTCTAACACGAACGAACCCACC GCGTCTAACACGAACGAGCCCACCGCGTCTAACACGAACGAACCCTCCGC GTCTAACACGAACGAACCCACCGCGTCTAACACCAACGAGCCCACCGCGT CTAACACGAACGAGCCCACCGCGTCTAACACGAACGAGCCCACCGCGTCT AACACGAACGAGCCCGCCGCGTCTAACACGAACGAACCCGCCGCGTCTAA CACGAACGAGCCCGCCGCGTCTAACACGAACGAGCCCGCCGCGTCT		GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	1/7						chr19	TogoVar
GPR173_chrX_53043789_53085615	53074114	T T	TTATATAT others(521): Show TTATATATAAATATATAAATATACATTTATATATAAATATATAAATATAC ATTTATATATAAATATATATAAATATACATTTATATATAAATATATATAA ATATACATTTATATATAAATATATATAAATATACATGTATATTTATTCAT ATATAAATATATATAAATATACATGTATATTTATTCATATATAAATATAT ATAAATATACATGTATATTTATTCATATATAAATATATATAAATATACAT GTATATTTATTCATATATAAATATATATAAATATACATGTATATTTATTC ATATATAAATATATATAAATATACATGTATATTTATTCATATATAAATAT ATATAAATATACATGTATATTTATTCATATATAAATATATATAAATATAC ATGTATATTTATTCATATATAAATATATATAAATATACATGTATATTTAT TCACATATAAATATATATAAATATACATGTATATTTATTCACATATAAAT ATATATAAATATACATGTATATTTATTCA	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA18522.hp1 HG03139.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0026 a0001c0003t0002g0030 a0001c0003t0002g0026 a0001c0003t0002g0030	2	208	0.0096	528	c.-97 others(545): Show c.-97-2405_-97-2404insTAAATATATAAATATACATTTATATATA AATATATAAATATACATTTATATATAAATATATATAAATATACATTTATA TATAAATATATATAAATATACATTTATATATAAATATATATAAATATACA TGTATATTTATTCATATATAAATATATATAAATATACATGTATATTTATT CATATATAAATATATATAAATATACATGTATATTTATTCATATATAAATA TATATAAATATACATGTATATTTATTCATATATAAATATATATAAATATA CATGTATATTTATTCATATATAAATATATATAAATATACATGTATATTTA TTCATATATAAATATATATAAATATACATGTATATTTATTCATATATAAA TATATATAAATATACATGTATATTTATTCATATATAAATATATATAAATA TACATGTATATTTATTCACATATAAATATATATAAATATACATGTATATT TATTCACATATAAATATATATAAATATACATGTATATTTATTCATATATA		GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1					INFO_REALIGN_3_PRIME	chrX	TogoVar
GRAMD4_chr22_46615386_46684785	46643159	C C	CCATCCAT others(521): Show CCATCCATCCATCCATCCATCCATTTATCCATCCCTGGATCCATCCATCC ATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTAT CCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCC ATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCAT CCATCCATTCATTTATCCATCCCTGGATCCATCCATCCCTGGATCCATCC ATCCATCTACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGAT CCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCGTGG ATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATGCATCCATCCATGCATGCATGCATG	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0111 a0001c0001t0005g0111	1	328	0.0031	528	c.283 others(545): Show c.283+5222_283+5223insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCAT CCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCC ATCCATTCATTTATCCATCCCTGGATCCATCCATCCCTGGATCCATCCAT CCATCTACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGATCC ATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCGTGGAT CCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATGCATCCATCCATGCATGCATGCATGCATCCATCCATCCATCCATCCAT		GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18					INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643163	C C	CCATCCAT others(521): Show CCATCCATCCATCCATCCATTTATCCATCCCTGGATCCATCCATCCATCC ATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCCAT CCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCC ATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCAT CCATTCATTTATCCATCCCTGGATCCATCCATCCCTGGATCCATCCATCC ATCTACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGATCCAT CTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC GTGGATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATGCATCCATCCATGCATGCATGCATG	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0048 a0001c0001t0009g0048	1	328	0.0031	528	c.283 others(545): Show c.283+5222_283+5223insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCAT CCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCC ATCCATTCATTTATCCATCCCTGGATCCATCCATCCCTGGATCCATCCAT CCATCTACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGATCC ATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCGTGGATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATGCATCCATCCATGCATGCATGCATGCATCCATCCATCCATCCAT		GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18					INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643163	C C	CCATCCAT others(521): Show CCATCCATCCATCCATCCATTTATCCATCCCTGGATCCATCCATCCATCC ATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCCAT CCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCC ATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCAT CCATTCATTTATCCATCCCTGGATCCATCCATCCCTGGATCCATCCATCC ATCTACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGATCCAT CTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCGTGG ATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATGCATCCATCCATGCATGCATGCATG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01106.hp1 HG02257.hp2 others(1): Show HG00738.hp2 HG01106.hp1 HG02257.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0017 a0001c0001t0005 a0001c0001t0009 a0001c0001t0017	a0001c0001t0005g0258 a0001c0001t0009g0047 a0001c0001t0009g0054 others(1): Show a0001c0001t0005g0258 a0001c0001t0009g0047 a0001c0001t0009g0054 a0001c0001t0017g0043	4	328	0.0122	528	c.283 others(545): Show c.283+5222_283+5223insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCAT CCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCC ATCCATTCATTTATCCATCCCTGGATCCATCCATCCCTGGATCCATCCAT CCATCTACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGATCC ATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCGT GGATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATGCATCCATCCATGCATGCATGCATGCATCCATCCATCCATCCAT		GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18					INFO_REALIGN_3_PRIME	chr22	TogoVar
GTPBP4_chr10_983434_1024932	1011138	C C	CCCCTTCA others(521): Show CCCCTTCATTCTCCTGCATCCCTCCATCCTGACTGTGCCTCCTGCACCTC TTCCCCTCACCCCGAGACTCTGGTGGAGATGCTGGGCCCCTTCATTCTCC TGCATCCCTCCATCCTGACTCTGCCCCCTGCACCACCTTCCCCACCCCGA GACTCTGGTGGAGATGCTGGGCCTCTTCATTCTCCTGCACCCCTCCATCC TGACTCTGCCTCCTGCACCTCTTCCCTGTCCCGACACTCTGGTGGAGATG CTGGGCCCCTTCGTTATCCTGCACCCCTCCATCCTGACTCTGCCTCCTGC ACCTCTTCCCTGTCCCGACACTCTGGTGGAGATGCTGGGCCCCTTCATTC TCCTGCATCCCTCCATCCTGACTCTGCCCCCTACACCACCTTCCCCACCC CGAGACTCTGGTGGAGATGCTGGGCCTCTTCATTCTCCTGCACCCCTCCA TCCTGACTGTGCCTCCTGCACCACCTTCCCCCCCACCCTGTGTCTCCGCC AGGCCCTGGATGGGCTCTGCTGTGCTGGG	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA19003.hp1 NA18956.hp1 NA19003.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0111 a0001c0002t0002g0112	2	370	0.0054	528	c.134 others(545): Show c.1344+656_1344+657insTCCTGCACCTCTTCCCCTCACCCCGAGA CTCTGGTGGAGATGCTGGGCCCCTTCATTCTCCTGCATCCCTCCATCCTG ACTCTGCCCCCTGCACCACCTTCCCCACCCCGAGACTCTGGTGGAGATGC TGGGCCTCTTCATTCTCCTGCACCCCTCCATCCTGACTCTGCCTCCTGCA CCTCTTCCCTGTCCCGACACTCTGGTGGAGATGCTGGGCCCCTTCGTTAT CCTGCACCCCTCCATCCTGACTCTGCCTCCTGCACCTCTTCCCTGTCCCG ACACTCTGGTGGAGATGCTGGGCCCCTTCATTCTCCTGCATCCCTCCATC CTGACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCTGGTGGAGA TGCTGGGCCTCTTCATTCTCCTGCACCCCTCCATCCTGACTGTGCCTCCT GCACCACCTTCCCCCCCACCCTGTGTCTCCGCCAGGCCCTGGATGGGCTC TGCTGTGCTGGGCCCTTCATTCTCCTGCATCCCTCCATCCTGACTGTGCC		GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	13/16					INFO_REALIGN_3_PRIME	chr10	TogoVar
GTPBP4_chr10_983434_1024932	1015348	G G	GCTGAGCC others(521): Show GCTGAGCCTGGGAGTGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGCGG GGCTGGGGTCCTGAGCTCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCG CTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCTCTGAGCCTGGGAGCGGG GCTGGGGTCCTGAGCTCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCGC TGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCTCTGAGCCTGGGAGCGGGG CTGGGGTCCTGAGCGCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCGCT GAGCCTGGGAGCGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGCGGGGC TGGGGTCCTGAGCGCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCGCTG AGCCTGGGAGCGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGCGGGGCT GGGGTCCTGAGCGCTGAGCCTGGGAGTGGACCTGGGGTCCTGAGCTCTGA GCCTGGGAGCAGGGCTGGGGTCCTGAGCT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0166 a0001c0002t0017g0166	1	370	0.0027	528	c.160 others(545): Show c.1609-394_1609-393insAGTGGGGCTGGGGTCCTGAGCGCTGAGC CTGGGAGCGGGGCTGGGGTCCTGAGCTCTGAGCCTGGGAGCGGGGCTGGG GTCCTGAGCGCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCTCTGAGCC TGGGAGCGGGGCTGGGGTCCTGAGCTCTGAGCCTGGGAGCGGGGCTGGGG TCCTGAGCGCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCTCTGAGCCT GGGAGCGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGCGGGGCTGGGGT CCTGAGCGCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCGCTGAGCCTG GGAGCGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGCGGGGCTGGGGTC CTGAGCGCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCGCTGAGCCTGG GAGCGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGTGGACCTGGGGTCC TGAGCTCTGAGCCTGGGAGCAGGGCTGGGGTCCTGAGCTCTGAGCCTGGG		GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	15/16					INFO_REALIGN_3_PRIME	chr10	TogoVar
HBQ1_chr16_175459_186179	186102	G G	GGGAACAG others(521): Show GGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGAC ACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAG CGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG AGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGG GAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACAC GGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	528	c.49 others(539): Show c.4994_*4995insGGAACAGCGACACGGGGGAGGAACAGCGACACGG GGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCG ACACGGAGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGG GGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGAC ACGGAGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGG GAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGAC ACGGAGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGA		HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding					4924		chr16	TogoVar
HIVEP3_chr1_41501365_41923922	41544877	T T	TACCACCT others(521): Show TACCACCTCTACCACCACGACCACCACTACCACCTCTACCACCACCATCA CCACCACCACCACCATCACCTCTACCACCACCATCACCACCACCACCACC ATCACCTCTACCACCACCATCACCACCACTACCACTACCTCTACCTCCAC TGCTACCATCACCACCACCACTACCACCTCTACCACCACCATCACCACCA CCACTACCACCTCTACCACCACCACCACCACCACCACCACTACCACCTCT ACCACCTCTACCACCACCACCACCACTACCACCTCTACCACCACCATCAC CACCACCACCACTACCACCTCTACCACCACCATCACCACCACCACCACCA TCACCTCTACCACCACCATCACCACCACCACCACCACCACCTCTACCACC TCTACCACCACTACCACCTCTACCACCTCTACCACCACTACCACCTCTAC CACCTCTACCACCACCATCATCACCACCACGACCACCACTACCACCTCTA CCACCACCATCACCACCACCACCACCATC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0023 a0023	a0023c0027 a0023c0027	a0023c0027t0003 a0023c0027t0003	a0023c0027t0003g0077 a0023c0027t0003g0077	1	134	0.0075	528	c.520 others(549): Show c.5208-19968_5208-19967insGATGGTGGTGGTGGTGGTGATGGT GGTGGTAGAGGTGGTAGTGGTGGTCGTGGTGGTGATGATGGTGGTGGTAG AGGTGGTAGAGGTGGTAGTGGTGGTAGAGGTGGTAGAGGTGGTAGTGGTG GTAGAGGTGGTAGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTAGA GGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTAGTGGTGG TGGTGGTGATGGTGGTGGTAGAGGTGGTAGTGGTGGTGGTGGTGGTAGAG GTGGTAGAGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTAGAGGTGGT AGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTAGTGGTGGTGGTGATGG TAGCAGTGGAGGTAGAGGTAGTGGTAGTGGTGGTGATGGTGGTGGTAGAG GTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGATGGTGGTGGT GGTGGTGATGGTGGTGGTAGAGGTGGTAGTGGTGGTCGTGGTGGTAGAGG TGGT		HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8						chr1	TogoVar
IDI2_chr10_1013910_1030859	1015348	G G	GCTGAGCC others(521): Show GCTGAGCCTGGGAGTGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGCGG GGCTGGGGTCCTGAGCTCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCG CTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCTCTGAGCCTGGGAGCGGG GCTGGGGTCCTGAGCTCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCGC TGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCTCTGAGCCTGGGAGCGGGG CTGGGGTCCTGAGCGCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCGCT GAGCCTGGGAGCGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGCGGGGC TGGGGTCCTGAGCGCTGAGCCTGGGAGCGGGGCTGGGGTCCTGAGCGCTG AGCCTGGGAGCGGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGCGGGGCT GGGGTCCTGAGCGCTGAGCCTGGGAGTGGACCTGGGGTCCTGAGCTCTGA GCCTGGGAGCAGGGCTGGGGTCCTGAGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	434	0.0023	528	c.41 others(539): Show c.4168_*4169insAGCTCAGGACCCCAGCCCTGCTCCCAGGCTCAGA GCTCAGGACCCCAGGTCCACTCCCAGGCTCAGCGCTCAGGACCCCAGCCC CGCTCCCAGGCTCAGCGCTCAGGACCCCAGCCCCGCTCCCAGGCTCAGCG CTCAGGACCCCAGCCCCGCTCCCAGGCTCAGCGCTCAGGACCCCAGCCCC GCTCCCAGGCTCAGCGCTCAGGACCCCAGCCCCGCTCCCAGGCTCAGCGC TCAGGACCCCAGCCCCGCTCCCAGGCTCAGCGCTCAGGACCCCAGCCCCG CTCCCAGGCTCAGAGCTCAGGACCCCAGCCCCGCTCCCAGGCTCAGCGCT CAGGACCCCAGCCCCGCTCCCAGGCTCAGAGCTCAGGACCCCAGCCCCGC TCCCAGGCTCAGAGCTCAGGACCCCAGCCCCGCTCCCAGGCTCAGCGCTC AGGACCCCAGCCCCGCTCCCAGGCTCAGAGCTCAGGACCCCAGCCCCGCT CCCAGGCTCAGCGCTCAGGACCCCAGCCCCACTCCCAGGCTCAG		IDI2	ENSG00000148377.6	transcript	ENST00000277517.2	protein_coding					3561		chr10	TogoVar
IL3RA_chrX_1331785_1387689	1360946	C C	CCTCTCTG others(521): Show CCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCC TCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTC TCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTC TGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTG TCTCTCTCTCCCTTCCCCTCCCTGTCTCTCTCTCCCTTCCCCTCTCTGTC TCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTC TCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTC TCTCCCTTCCCCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTC CCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCC TTCCCCTCCCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTT CCCCTCTCTGTCTCTCTCTCCCTTCCCCT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	115	0.0087	528	c.759 others(545): Show c.759+2063_759+2064insCTGTCTCTCTCTCCCTTCCCCTCTCTGT CTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCT CTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCT CTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCT CTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCCCTGTCTCTCTCT CCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCC CTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCT TCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTGTCTCTCTCTCCCTTCCC CTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCT CTCTGTCTCTCTCTCCCTTCCCCTCCCTGTCTCTCTCTCCCTTCCCCTCT CTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCT		IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	8/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
IQCB1_chr3_121764761_121840060	121786167	T T	TAAGAAAA others(521): Show TAAGAAAAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0133 a0002c0003t0001g0133	1	308	0.0033	528	c.127 others(547): Show c.1278+2116_1278+2117insTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTTTC TT		IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14						chr3	TogoVar
KCNG2_chr18_79792938_79905100	79886451	A A	AGGGACAT others(521): Show AGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACG TGGGGACAGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACAT AGGGACGTGGGGACGGGGACATGGGGACATGGGGACACGGGACAGGGAGA TGGGGATGGGAACATAGGGACGTGGGGACAGGGACATGGGGACACGGGAC AGGGAGATGGGGATGGGAACATAGGGACGTGGGGACAGGGACATGGGGAC ACGGGACAGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACAT GGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACA GGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGT GGGGACAGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATA GGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGG GAACATAGGGACGTGGGGACGGGGACATG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01943.hp1 HG01981.hp1 others(17): Show HG00438.hp1 HG01943.hp1 HG01981.hp1 HG03017.hp1 HG04228.hp2 NA18940.hp2 NA18945.hp1 NA18945.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp2 NA18955.hp2 NA18973.hp2 NA18984.hp1 NA19056.hp2 NA19064.hp2 NA19065.hp2 NA19080.hp1 NA19089.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0050 a0002c0002t0002g0062 a0002c0002t0002g0063 others(17): Show a0002c0002t0001g0050 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0067 a0002c0002t0002g0093 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0113 a0002c0002t0002g0214 a0002c0002t0002g0235 a0002c0002t0002g0239 a0002c0002t0002g0259 a0002c0002t0002g0265 a0002c0002t0002g0272 a0002c0002t0002g0287 a0002c0002t0002g0289 a0002c0002t0002g0290 a0002c0002t0002g0306	20	312	0.0641	528	c.625 others(547): Show c.625-12583_625-12582insTGGGGACACGGGACAGGGAGATGGGG ATGGGAACATAGGGACGTGGGGACAGGGACATGGGGACACGGGACAGGGA GATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACATGGG GACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACAGGG ACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGG GACAGGGACATGGGGACACGGGACAGGAGATGGGGATGGGAACATAGGGA CGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAAC ATAGGGACGTGGGGACAGGGACATGGGGACACGGGACAGGGAGATGGGGA TGGGAACATAGGGACGTGGGGACAGGGACATGGGGACACGGGACAGGGAG ATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGGA CAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGA CA		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79886451	A A	AGGGACAT others(521): Show AGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACG TGGGGACAGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACAT AGGGACGTGGGGATGGGGACATGGGGACATGGGGACACGGGACAGGGAGA TGGGGATGGGAACATAGGGACGTGGGGACAGGGACATGGGGACACGGGAC AGGGAGATGGGGATGGGAACATAGGGACGTGGGGACAGGGACATGGGGAC ACGGGACAGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACAT GGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACA GGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGT GGGGACAGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATA GGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGG GAACATAGGGACGTGGGGACGGGGACATG	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0271 a0002c0002t0002g0271	1	312	0.0032	528	c.625 others(547): Show c.625-12583_625-12582insTGGGGACACGGGACAGGGAGATGGGG ATGGGAACATAGGGACGTGGGGACAGGGACATGGGGACACGGGACAGGGA GATGGGGATGGGAACATAGGGACGTGGGGATGGGGACATGGGGACATGGG GACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACAGGG ACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGG GACAGGGACATGGGGACACGGGACAGGAGATGGGGATGGGAACATAGGGA CGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAAC ATAGGGACGTGGGGACAGGGACATGGGGACACGGGACAGGGAGATGGGGA TGGGAACATAGGGACGTGGGGACAGGGACATGGGGACACGGGACAGGGAG ATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGGA CAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGA CA		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNMB2_chr3_178531436_178849429	178757984	G G	GATATATA others(521): Show GATATATATATATCCAAGAGGATATATATATATATCTCCAAGAGGATATA TATATATACACAAGAGGATATATATATATACACACAAGAGGATATATATA TGTACACACAAGAGGATATATATATGTACACACAAGAGGATATATATATA TATATCCAAGAGGATATATATATATATATATCCAAGAGGATATATATATA TATATATCCAAGAGGATATATATATATATATATCCAAGAGGATATATATA TATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATATATA TATATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATATA TATATATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATA TATATATATATATATCCAAGAGGATATATATATATATATATCCAAGAGGA TATATATATATATATATCCAAGAGGATATATATATATATATATCCAAGAG GATATATATATATATATATCCAAGAGGAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0106 a0001c0001t0003g0106	1	232	0.0043	528	c.-67 others(547): Show c.-67-49347_-67-49346insCCAAGAGGATATATATATATATCTCC AAGAGGATATATATATATACACAAGAGGATATATATATATACACACAAGA GGATATATATATGTACACACAAGAGGATATATATATGTACACACAAGAGG ATATATATATATATATCCAAGAGGATATATATATATATATATCCAAGAGG ATATATATATATATATATCCAAGAGGATATATATATATATATATCCAAGA GGATATATATATATATATATCCAAGAGGATATATATATATATATATCCAA GAGGATATATATATATATATATCCAAGAGGATATATATATATATATATCC AAGAGGATATATATATATATATATCCAAGAGGATATATATATATATATAT CCAAGAGGATATATATATATATATATCCAAGAGGATATATATATATATAT ATCCAAGAGGATATATATATATATATATCCAAGAGGATATATATATATAT ATATCCAAGAGGATATATATATATATATATCCAAGAGGATATATATATAT AT		KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr3	TogoVar
LRP8_chr1_53237364_53333070	53284196	T T	TACTTACC others(521): Show TACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGG GCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACAT ACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTA CTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACT TACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCG CTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCC GGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTAC ATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACC TACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA CTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGC CGCTTACTTACCTACTACATACCCGGGCC	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	296	0.0034	528	c.368 others(545): Show c.368-3482_368-3481insGGCCCGGGTATGTAGTAGGTAAGTAAGC GGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAA GTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGT AGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTA TGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCC CGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAA GCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGT AAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTA GTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGG TATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGG CCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGT		LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18						chr1	TogoVar
LTBP2_chr14_74493183_74617237	74564153	A A	ATATATAT others(521): Show ATATATATATTTATATATATATATTTATATATATATTTATATATATATTT ATATATATATATTTATATATATATTTATATATATTTATATATATATATTT ATATATATATATTATATATATATTTATATATATATTTTTATATATATATT TATATATATATATTTATATATATTTATATATATATTTATATATATATTTA TATATATTTATATATATTTATATATATATTTATATATATATTTATATATA TTTATATATATTTATATATATATTTATATATATATTTATATATATTTATA TATATTTATATATATATTTATATATATATTTATATATATTTATATATATT TATATATATTTTTATATATATATTTAATATATATTTATATATATTTATAT ATATATTTATATATATTTATATATATTTATATATATTTATATATATATTT ATATATATATTTATATATATTTATATATATATTTATATATATATTTATAT ATATTTATATATATATTTATATATATATT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0133 a0001c0009t0002g0133	1	282	0.0036	528	c.831 others(545): Show c.831-8461_831-8460insAATATATATATAAATATATATATAAATA TATATAAATATATATATAAATATATATATAAATATATATAAATATATATA TAAATATATATATAAATATATATAAATATATATAAATATATATAAATATA TATATAAATATATATAAATATATATTAAATATATATATAAAAATATATAT AAATATATATAAATATATATAAATATATATATAAATATATATATAAATAT ATATAAATATATATAAATATATATATAAATATATATATAAATATATATAA ATATATATAAATATATATATAAATATATATATAAATATATATAAATATAT ATAAATATATATATAAATATATATATAAATATATATAAATATATATATAT AAATATATATATAAAAATATATATATAAATATATATATAATATATATATA TAAATATATATATATAAATATATATAAATATATATATAAATATATATATA TAAATATATATATAAATATATATATAAATATATATATATAAATATATATA		LTBP2	ENSG00000119681.12	transcript	ENST00000261978.9	protein_coding	3/35						chr14	TogoVar
LUC7L_chr16_183990_234449	186102	G G	GGGAACAG others(521): Show GGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGAC ACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAG CGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG AGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGG GAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACAC GGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0339 a0001c0001t0002g0339	1	350	0.0029	528	c.30 others(539): Show c.3095_*3096insTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTG TTCCCTCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTC GCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCC GTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCC CCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTG TTCCCTCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTC GCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCC GTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCC CGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTT CCCTCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGC TGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCC		LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding					2887		chr16	TogoVar
MCF2L2_chr3_183173041_183433619	183314948	T T	TGAGACAG others(521): Show TGAGACAGAATTTCACTCTTGTTGCCCAGGCTGGAGTACAATGGTACGAT CTCAGCTCATTGCAACCTCCGCCTCCCAGGTTCAAGAGATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGGGTA ATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCGTGTTGGTCAGGCTGGT CTCAAACTCCCGACTTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGC TGGTATTACAGGTGTGAGCCACTGCACCTGGCCAGTATCTCTTTTTTTCT AATATAAACCATTTCTCTCTTTAAGCCATTTTTGGATGAGAAAGAGGAAA TATATAACTCTAGTTTAATGATTTTGGTATTCTTGCTTCTAAGCTACAAG ATAACGAACAAAGAAATCAGATTTGAATTAGGACAATAATCAGTAATCAC AAAAAGGCCTTAAGAAATTCTCTGTATTTTTTTGGTTTGTTTTTTGTTTG TTTGTTTGTTTGTTTGTTTGTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA19007.hp1 HG03516.hp1 NA19007.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0005c0007t0002 a0001c0001t0001 a0005c0007t0002	a0001c0001t0001g0123 a0005c0007t0002g0089 a0001c0001t0001g0123 a0005c0007t0002g0089	2	176	0.0114	528	c.753 others(545): Show c.753+3119_753+3120insCAAAACAAACAAACAAACAAACAAACAA ACAAACAAAAAACAAACCAAAAAAATACAGAGAATTTCTTAAGGCCTTTT TGTGATTACTGATTATTGTCCTAATTCAAATCTGATTTCTTTGTTCGTTA TCTTGTAGCTTAGAAGCAAGAATACCAAAATCATTAAACTAGAGTTATAT ATTTCCTCTTTCTCATCCAAAAATGGCTTAAAGAGAGAAATGGTTTATAT TAGAAAAAAAGAGATACTGGCCAGGTGCAGTGGCTCACACCTGTAATACC AGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTCGGGAGTTTGA GACCAGCCTGACCAACACGGAGAAACCCCATCTCTACTAAAAATACAAAA TTACCCGGACATGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCAATGAGCTGA GATCGTACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAATTCTGTCTC		MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	7/29						chr3	TogoVar
MCF2L_chr13_112964214_113104742	113067538	T T	TCGGAGGC others(521): Show TCGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCACCTGGGTGGTGCACAG CTGGAGTCCCAGCTACGCGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCA CCTGGGTGGTGCACAGCTGGAGTCCCAGCTACGCGGAGGCAGAGGTCGCA GTGAGCCGAGATTGCACCTGGGTGGTGCACAGCTGGAGTGCCAGCTACGC GGAGGCAGAGGTCGCAGTGAGCCGAGATTGCACCTGGGTGGTGCACAGCT GGAGTGCCAGCTACTCGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCACC TGGGTGGTGCACAGCTGGAGTGCCAGCTACTCGGAGGCAGAGGTCGCAGT GAGCCGAGATTGCACCTGGGTGGTGCACAGCTGGAGTCCCAGCTACGCGG AGGCAGAGGTCGCAGTGAGCCGAGATTGCACCTGGGTGGTGCACAGCTGG AGTCCCAGCTACGCGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCACCTG GGTGGTGCACAGCTGGAGTGCCAGCTACG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	116	0.0086	528	c.881 others(545): Show c.881+1424_881+1425insCCCAGCTACGCGGAGGCAGAGGTCGCAG TGAGCCGAGATTGCACCTGGGTGGTGCACAGCTGGAGTCCCAGCTACGCG GAGGCAGAGGTCGCAGTGAGCCGAGATTGCACCTGGGTGGTGCACAGCTG GAGTGCCAGCTACGCGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCACCT GGGTGGTGCACAGCTGGAGTGCCAGCTACTCGGAGGCAGAGGTCGCAGTG AGCCGAGATTGCACCTGGGTGGTGCACAGCTGGAGTGCCAGCTACTCGGA GGCAGAGGTCGCAGTGAGCCGAGATTGCACCTGGGTGGTGCACAGCTGGA GTCCCAGCTACGCGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCACCTGG GTGGTGCACAGCTGGAGTCCCAGCTACGCGGAGGCAGAGGTCGCAGTGAG CCGAGATTGCACCTGGGTGGTGCACAGCTGGAGTGCCAGCTACGCGGAGG CAGAGGTCGCAGTGAGCCGAGATTGCACCTGGGTGGTGCACAGCTGGAGT		MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	8/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
MCF2L_chr13_112964214_113104742	113068000	T T	TCGGAGGC others(521): Show TCGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCACCTGGGTGGTGCACAG CTGGAGTGCCAGCTACTCGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCA CCTGGGTGGTGCACAGCTGGAGTCCCAGCTACTCGGAGGCAGAGGTCGCA GTGAGCCGAGATTGCACCTGGGTGGTGCACAGCTGGAGTCCCAGCTACGC GGAGGCAGAGGTCGCAGTGAGCCGAGATTGCACCTGGGTGGTGCACAGCT GGAGTGCCAGCTACTCGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCACC TGGGTGGTGCACAGCTGGAGTGCCAGCTACTCGGAGGCAGAGGTCGCAGT GAGCCGAGATTGCACCTGGGTGGCGCACAGCTGGAGTCCCAGCTACACGG AGGCAGAGGTCGCAGTGAGCCGAGATTGCACCTGGGTGGTGCACAGCTGG AGTGCCAGCTACTCGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCACCTG GGTGGTGCACAGCTGGAGTGCCAGCTACG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02145.hp1 HG06807.hp2 others(1): Show HG01109.hp2 HG02145.hp1 HG06807.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0026 a0001c0001t0007 a0001c0001t0026	a0001c0001t0007g0017 a0001c0001t0007g0026 a0001c0001t0007g0035 others(1): Show a0001c0001t0007g0017 a0001c0001t0007g0026 a0001c0001t0007g0035 a0001c0001t0026g0034	4	116	0.0345	528	c.881 others(545): Show c.881+1886_881+1887insGCCAGCTACTCGGAGGCAGAGGTCGCAG TGAGCCGAGATTGCACCTGGGTGGTGCACAGCTGGAGTCCCAGCTACTCG GAGGCAGAGGTCGCAGTGAGCCGAGATTGCACCTGGGTGGTGCACAGCTG GAGTCCCAGCTACGCGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCACCT GGGTGGTGCACAGCTGGAGTGCCAGCTACTCGGAGGCAGAGGTCGCAGTG AGCCGAGATTGCACCTGGGTGGTGCACAGCTGGAGTGCCAGCTACTCGGA GGCAGAGGTCGCAGTGAGCCGAGATTGCACCTGGGTGGCGCACAGCTGGA GTCCCAGCTACACGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCACCTGG GTGGTGCACAGCTGGAGTGCCAGCTACTCGGAGGCAGAGGTCGCAGTGAG CCGAGATTGCACCTGGGTGGTGCACAGCTGGAGTGCCAGCTACGCGGAGG CAGAGGTCGCAGTGAGCCGAGATTGCACCTGGGTGGTGCACAGCTGGAGT		MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	8/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
MGRN1_chr16_4619826_4695972	4648839	C C	CGGGGGCT others(521): Show CGGGGGCTCTTCCCGTGGTCACCCGGGTCCTCCTCTCCGGGGCTCTTCCC GTGGTCACCCGGCTCCTCCTCCCGGGGGCTCTTCCCGTGGTCACCCGGCT CCTCCTCCCGGGGGCTCTTCCCCGTGGTCACCCGGCTCCTCCTCCCGGGG CTCTTCCCGTGGTCACCCGGGTCCTCCTCCCGGGGACTCTTCCCGTGGTC ACCCGGGTCCTCCTCCCGGGGACTCTTCCCATGGTCACCCGGGTCCTCCT CCCGGGGGCTCTTCCCATGGTCACCCGGGTCCTCCTCTCCGGGGCTCTTC CCGTGGTCACCCGGCTCCTCCTCCCGTGGTCACCCGGGTCCTCCTCCCGG GGGCTCTTCCCGTGGTCACCCGGCTCCTCCTCCCGGGGGCTCTTCCCGTG GTCACCCGGCTCCTCCTCCCGGGGGCTCTTCCCCGTGGTCACCCGGCTCC TCCTCCCGGGGCTCTTCCCGTGGTCACCCGGCTCCTCCTCCCGGGGGCTC TTCCCGTGGTCACCCGGCTCCTCCTCCCG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0036 a0001c0004t0036	a0001c0004t0036g0087 a0001c0004t0036g0087	1	334	0.0030	528	c.89- others(543): Show c.89-1522_89-1521insGCTCTTCCCGTGGTCACCCGGGTCCTCCTC TCCGGGGCTCTTCCCGTGGTCACCCGGCTCCTCCTCCCGGGGGCTCTTCC CGTGGTCACCCGGCTCCTCCTCCCGGGGGCTCTTCCCCGTGGTCACCCGG CTCCTCCTCCCGGGGCTCTTCCCGTGGTCACCCGGGTCCTCCTCCCGGGG ACTCTTCCCGTGGTCACCCGGGTCCTCCTCCCGGGGACTCTTCCCATGGT CACCCGGGTCCTCCTCCCGGGGGCTCTTCCCATGGTCACCCGGGTCCTCC TCTCCGGGGCTCTTCCCGTGGTCACCCGGCTCCTCCTCCCGTGGTCACCC GGGTCCTCCTCCCGGGGGCTCTTCCCGTGGTCACCCGGCTCCTCCTCCCG GGGGCTCTTCCCGTGGTCACCCGGCTCCTCCTCCCGGGGGCTCTTCCCCG TGGTCACCCGGCTCCTCCTCCCGGGGCTCTTCCCGTGGTCACCCGGCTCC TCCTCCCGGGGGCTCTTCCCGTGGTCACCCGGCTCCTCCTCCCGGGGG		MGRN1	ENSG00000102858.13	transcript	ENST00000262370.12	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr16	TogoVar
MINK1_chr17_4828340_4903061	4852769	T T	TGGGGGAG others(521): Show TGGGGGAGTGTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTT GGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGA TTGGTGGGGGAGTGTGGTTGGTAGGGGAGTGTGGTTGGTGGGGGAGTGTG GTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGT GGTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTG TGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGA GTGTGGTTGGTGGGGGAGTGTGGTTGGGGGAGTGTGGTTGATGGGTGGAG TGTGGTTGAGGGGGAGTGTGGTTGAGGGGGAGTGTGGTTGGTGGGGGAGT GTGGTTGGTGGGGAGTGTGGTTGGTGGGGCAGTGTGGTTGATGGGGGGAG TGTGGTTGATGGGGAGTGTGGTTGATGGGGGGAGTGTGGTTGGTGGGGGA GTGTGGTTGGTGGGGGAGTGTGGTTGATG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG00544.hp1 others(45): Show HG00280.hp1 HG00438.hp2 HG00544.hp1 HG00621.hp2 HG00733.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01433.hp2 HG01516.hp1 HG01517.hp2 HG01928.hp2 HG02004.hp2 HG02027.hp2 HG02132.hp1 HG02155.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02523.hp2 HG02735.hp1 HG03239.hp1 HG03540.hp2 NA18943.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18961.hp2 NA18969.hp1 NA18973.hp1 NA18983.hp1 NA18990.hp1 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19057.hp1 NA19063.hp2 NA19064.hp2 NA19066.hp1 NA19070.hp2 NA19079.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0002 a0004c0006 others(1): Show a0001c0001 a0002c0002 a0004c0006 a0005c0009	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(12): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0030 a0001c0001t0031 a0001c0001t0047 a0002c0002t0001 a0004c0006t0012 a0005c0009t0044	a0001c0001t0002g0129 a0001c0001t0005g0001 a0001c0001t0005g0086 others(41): Show a0001c0001t0002g0129 a0001c0001t0005g0001 a0001c0001t0005g0086 a0001c0001t0005g0089 a0001c0001t0005g0090 a0001c0001t0005g0094 a0001c0001t0005g0110 a0001c0001t0005g0111 a0001c0001t0005g0114 a0001c0001t0005g0115 a0001c0001t0005g0116 a0001c0001t0007g0084 a0001c0001t0007g0087 a0001c0001t0007g0093 a0001c0001t0007g0102 a0001c0001t0007g0103 a0001c0001t0007g0104 a0001c0001t0007g0105 a0001c0001t0007g0106 a0001c0001t0007g0107 a0001c0001t0007g0123 a0001c0001t0007g0126 a0001c0001t0008g0083 a0001c0001t0008g0127 a0001c0001t0012g0096 a0001c0001t0012g0097 a0001c0001t0012g0108 a0001c0001t0013g0075 a0001c0001t0014g0092 a0001c0001t0017g0003 a0001c0001t0017g0091 a0001c0001t0017g0113 a0001c0001t0017g0124 a0001c0001t0018g0128 a0001c0001t0030g0085 a0001c0001t0030g0098 a0001c0001t0031g0088 a0001c0001t0031g0120 a0001c0001t0047g0130 a0002c0002t0001g0109 a0004c0006t0012g0112 a0004c0006t0012g0117 a0004c0006t0012g0125 a0005c0009t0044g0121	48	360	0.1333	528	c.57+ others(545): Show c.57+19144_57+19145insGTGGGGGGAGTGTGATTTGTGGGGGAGT GTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTTGGTGGGGGA GTGTGATTGGTGGGGGAGTGTGGTTGGTAGGGGAGTGTGGTTGGTGGGGG AGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGG GAGTGTGGTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGGTTGGTGGG GGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGT GGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGGGGAGTGTGGTTGATGG GTGGAGTGTGGTTGAGGGGGAGTGTGGTTGAGGGGGAGTGTGGTTGGTGG GGGAGTGTGGTTGGTGGGGAGTGTGGTTGGTGGGGCAGTGTGGTTGATGG GGGGAGTGTGGTTGATGGGGAGTGTGGTTGATGGGGGGAGTGTGGTTGGT GGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGATGGGGGGAGTGTGGTTG		MINK1	ENSG00000141503.17	transcript	ENST00000355280.11	protein_coding	1/31					INFO_REALIGN_3_PRIME	chr17	TogoVar
MINK1_chr17_4828340_4903061	4852769	T T	TGGGGGAG others(521): Show TGGGGGAGTGTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTT GGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGA TTGGTGGGGGAGTGTGGTTGGTAGGGGAGTGTGGTTGGTGGGGGAGTGTG GTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGT GGTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTG TGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGA GTGTGGTTGGTGGGGGAGTGTGGTTGGGGGAGTGTGGTTGATGGGTGGAG TGTGGTTGAGGGGGAGTGTGGTTGAGGGGGAGTGTGGTTGGTGGGGGAGT GTGGTTGGTGGGGAGTGTGGTTGGTGGGGCAGTGTGGTTGATGGGGGGAG TGTGGTTGATGGGGAGTGTGGTTGATGGGGGGAGTGTGGTTGGTGGGGGA GTGTGGTTGGTGGGGGAGTGTGGTTGATG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0038 a0003c0003t0003g0038	1	360	0.0028	528	c.57+ others(545): Show c.57+19144_57+19145insGTGGGGGGAGTGTGATTTGTGGGGGAGT GTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTTGGTGGGGGA GTGTGATTGGTGGGGGAGTGTGGTTGGTAGGGGAGTGTGGTTGGTGGGGG AGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGG GAGTGTGGTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGTTTGGTGGG GGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGT GGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGGGGAGTGTGGTTGATGG GTGGAGTGTGGTTGAGGGGGAGTGTGGTTGAGGGGGAGTGTGGTTGGTGG GGGAGTGTGGTTGGTGGGGAGTGTGGTTGGTGGGGCAGTGTGGTTGATGG GGGGAGTGTGGTTGATGGGGAGTGTGGTTGATGGGGGGAGTGTGGTTGGT GGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGATGGGGGGAGTGTGGTTG		MINK1	ENSG00000141503.17	transcript	ENST00000355280.11	protein_coding	1/31					INFO_REALIGN_3_PRIME	chr17	TogoVar
MINK1_chr17_4828340_4903061	4852769	T T	TGGGGGAG others(521): Show TGGGGGAGTGTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTT GGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGA TTGGTGGGGGAGTGTGGTTGGTAGGGGAGTGTGGTTGGTGGGGGAGTGTG GTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGT GGTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTG TGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGA GTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGGGGAGT GTGGTTGATGGGTGGAGTGTGGTTGAGGGGGAGTGTGGTTGAGGGGGAGT GTGGTTGGTGGGGGAGTGTGGTTGGTGGGGAGTGTGGTTGGTGGGGCAGT GTGGTTGATGGGGGGAGTGTGGTTGATGGGGAGTGTGGTTGATGGGGGGA GTGTGGTTGGTGGGGGAGTGTGGTTGATG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01346.hp2 HG00639.hp2 HG01346.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0010 a0003c0003t0010	a0003c0003t0010g0031 a0003c0003t0010g0039 a0003c0003t0010g0031 a0003c0003t0010g0039	2	360	0.0056	528	c.57+ others(545): Show c.57+19144_57+19145insGTGGGGGGAGTGTGATTTGTGGGGGAGT GTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTTGGTGGGGGA GTGTGATTGGTGGGGGAGTGTGGTTGGTAGGGGAGTGTGGTTGGTGGGGG AGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGG GAGTGTGGTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGTTTGGTGGG GGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGT GGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGG GGGAGTGTGGTTGATGGGTGGAGTGTGGTTGAGGGGGAGTGTGGTTGAGG GGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGAGTGTGGTTGGTGG GGCAGTGTGGTTGATGGGGGGAGTGTGGTTGATGGGGAGTGTGGTTGATG GGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGATGGGGGGAGTGTGGTTG		MINK1	ENSG00000141503.17	transcript	ENST00000355280.11	protein_coding	1/31					INFO_REALIGN_3_PRIME	chr17	TogoVar
MINK1_chr17_4828340_4903061	4852769	T T	TGGGGGAG others(521): Show TGGGGGAGTGTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTT GGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGA TTGGTGGGGGAGTGTGGTTGGTAGGGGAGTGTGGTTGGTGGGGGAGTGTG GTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGT GTTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGGTTGGTGGGGGGAGT GTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGA GTGTGGTTGGTGGGGGAGTGTGGTTGGGGGAGTGTGGTTGATGGGTGGAG TGTGGTTGAGGGGGAGTGTGGTTGAGGGGGAGTGTGGTTGGTGGGGGAGT GTGGTTGGTGGGGAGTGTGGTTGGTGGGGCAGTGTGGTTGATGGGGGGAG TGTGGTTGATGGGGAGTGTGGTTGATGGGGGGAGTGTGGTTGGTGGGGGA GTGTGGTTGGTGGGGGAGTGTGGTTGATG	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19074.hp1 NA19012.hp2 NA19074.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0035 a0003c0003t0010 a0002c0002t0035 a0003c0003t0010	a0002c0002t0035g0070 a0003c0003t0010g0008 a0002c0002t0035g0070 a0003c0003t0010g0008	2	360	0.0056	528	c.57+ others(545): Show c.57+19144_57+19145insGTGGGGGGAGTGTGATTTGTGGGGGAGT GTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTTGGTGGGGGA GTGTGATTGGTGGGGGAGTGTGGTTGGTAGGGGAGTGTGGTTGGTGGGGG AGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGG GAGTGTGTTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGGTTGGTGGG GGGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGT GGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGGGGAGTGTGGTTGATGG GTGGAGTGTGGTTGAGGGGGAGTGTGGTTGAGGGGGAGTGTGGTTGGTGG GGGAGTGTGGTTGGTGGGGAGTGTGGTTGGTGGGGCAGTGTGGTTGATGG GGGGAGTGTGGTTGATGGGGAGTGTGGTTGATGGGGGGAGTGTGGTTGGT GGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGATGGGGGGAGTGTGGTTG		MINK1	ENSG00000141503.17	transcript	ENST00000355280.11	protein_coding	1/31					INFO_REALIGN_3_PRIME	chr17	TogoVar
MOV10L1_chr22_50085006_50166687	50147278	C C	CGCTCTCT others(521): Show CGCTCTCTCAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCTGCAGGCCG CTCTCTCAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCTGCAGGCCGCT CTCTCAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCTGCAGGCCGCTCT CTCAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCTGCAGGCCGCTCTCT CAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCTGCAGGCCGCTCTCTCA GAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCTGCAGGCCGCTCTCTCAGA GGCGCTCTGTGCAGAAGCAGGGAGGGTGCTGCAGGCCGCTCTCTCAGAGG CGCTCTGTGCAGAAGCAGGGAGGGTGCTGCAGGCCGCTCTCTCAGAGGCG CTCTGTGCAGAAGCAGGGAGGGTGCTGCAGGCCGCTCTCTCAGAGGCGCT CTGTGCAGAAGCAGGGAGGGTGCTGCAGGCCGCTCTCTCAGAGGCGCTCT GTGCAGAAGCAGGGAGGGTGCTGCAGGCT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0013 a0013	a0013c0019 a0013c0019	a0013c0019t0001 a0013c0019t0001	a0013c0019t0001g0223 a0013c0019t0001g0223	1	400	0.0025	528	c.262 others(547): Show c.2627+1801_2627+1802insGCCGCTCTCTCAGAGGCGCTCTGTGC AGAAGCAGGGAGGGTGCTGCAGGCCGCTCTCTCAGAGGCGCTCTGTGCAG AAGCAGGGAGGGTGCTGCAGGCCGCTCTCTCAGAGGCGCTCTGTGCAGAA GCAGGGAGGGTGCTGCAGGCCGCTCTCTCAGAGGCGCTCTGTGCAGAAGC AGGGAGGGTGCTGCAGGCTGCTCTCTCAGAGGCGCTCTGTGCAGAAGCAG GGAGGGTGCTGCAGGCCGCTCTCTCAGAGGCGCTCTGTGCAGAAGCAGGG AGGGTGCTGCAGGCCGCTCTCTCAGAGGCGCTCTGTGCAGAAGCAGGGAG GGTGCTGCAGGCCGCTCTCTCAGAGGCGCTCTGTGCAGAAGCAGGGAGGG TGCTGCAGGCCGCTCTCTCAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTG CTGCAGGCCGCTCTCTCAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCT GCAGGCCGCTCTCTCAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCTGC AG		MOV10L1	ENSG00000073146.17	transcript	ENST00000262794.10	protein_coding	19/26					INFO_REALIGN_3_PRIME	chr22	TogoVar
MOV10L1_chr22_50085006_50166687	50147437	G G	GCTCTGTG others(521): Show GCTCTGTGCAGAAGCAGGGAGGGTGCTGCAGGCCGCTCTCTCAGAGGCGC TCTGTGCAGAAGCAGGGAGGGTGCTGCAGGCCGCTCTCTCAGAGGCGCTC TGTGCAGAAGCAGGGAGGGTGCTGCAGGCCGCTCTCTCAGAGGCACTCTG TGCAGAAGCAGGGAGGGTGCTGCAGGCCGCTCTCTCAGAGGCGCTCTGTG CAGAAGCAGGGAGGGTGCTGCAGGCCGCTCTCTCAGAGGCGCTCTGTGCA GAAGCAGGGAGGGTGCTGCAGGCCGCTCTCTCAGAGGCGCTCTGTGCAGA AGCAGGGAGGGTGCTGCAGGCCGCTCTCTCAGAGGCGCTCTGTGCAGAAG CAGGGAGGGTGCTGCAGGCCGCTCTCTCAGAGGCGCTCTGTGCAGAAGCA GGGAGGGTGCTGCAGGCTGCTCTCTCAGAGGCGCTCTGTGCAGAAGCAGG GAGGGTGCTGCAGGCCGCTCTCTCAGAGGCGCTCTGTGCAGAAGCAGGGA GGGTGCTGCAGGCCGCTCTCTCAGAGGCA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	400	0.0025	528	c.262 others(547): Show c.2627+1770_2627+1771insACTCTGTGCAGAAGCAGGGAGGGTGC TGCAGGCCGCTCTCTCAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCTG CAGGCCGCTCTCTCAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCTGCA GGCCGCTCTCTCAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCTGCAGG CCGCTCTCTCAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCTGCAGGCC GCTCTCTCAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCTGCAGGCTGC TCTCTCAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCTGCAGGCCGCTC TCTCAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCTGCAGGCCGCTCTC TCAGAGGCACTCTGTGCAGAAGCAGGGAGGGTGCTGCAGGCCGCTCTCTC AGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCTGCAGGCCGCTCTCTCAG AGGCGCTCTGTGCAGAAGCAGGGAGGGTGCTGCAGGCCGCTCTCTCAGAG GC		MOV10L1	ENSG00000073146.17	transcript	ENST00000262794.10	protein_coding	19/26					INFO_REALIGN_3_PRIME	chr22	TogoVar
MOV10L1_chr22_50085006_50166687	50147470	C C	CGCTCTCT others(521): Show CGCTCTCTCAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCTGCAGGCCG CTCTCTCAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCTGCAGGCCGCT CTCTCAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCTGCAGGCTGCTCT CTCAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCTGCAGGCCGCTCTCT CAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCTGCAGGCCGCTCTCTCA GAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCTGCAGGCCGCTCTCTCAGA GGCGCTCTGTGCAGAAGCAGGGAGGGTGCTGCAGGCTGCTCTCTCAGAGG CGCTCTGTGCAGAAGCAGGGAGGGTGCTGCAGGCCGCTCTCTCAGAGGCG CTCTGTGCAGAAGCAGGGAGGGTGCTGCAGGCCGCTCTCTCAGAGGCGCT CTGTGCAGAAGCAGGGAGGGTGCTGCAGGCCGCTCTCTCAGAGGCGCTCT GTGCAGAAGCAGGGAGGGTGCTGCAGGCT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0013 a0013	a0013c0019 a0013c0019	a0013c0019t0001 a0013c0019t0001	a0013c0019t0001g0224 a0013c0019t0001g0224	1	400	0.0025	528	c.262 others(547): Show c.2627+1801_2627+1802insGCTGCTCTCTCAGAGGCGCTCTGTGC AGAAGCAGGGAGGGTGCTGCAGGCCGCTCTCTCAGAGGCGCTCTGTGCAG AAGCAGGGAGGGTGCTGCAGGCCGCTCTCTCAGAGGCGCTCTGTGCAGAA GCAGGGAGGGTGCTGCAGGCCGCTCTCTCAGAGGCGCTCTGTGCAGAAGC AGGGAGGGTGCTGCAGGCTGCTCTCTCAGAGGCGCTCTGTGCAGAAGCAG GGAGGGTGCTGCAGGCCGCTCTCTCAGAGGCGCTCTGTGCAGAAGCAGGG AGGGTGCTGCAGGCCGCTCTCTCAGAGGCGCTCTGTGCAGAAGCAGGGAG GGTGCTGCAGGCCGCTCTCTCAGAGGCGCTCTGTGCAGAAGCAGGGAGGG TGCTGCAGGCTGCTCTCTCAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTG CTGCAGGCCGCTCTCTCAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCT GCAGGCCGCTCTCTCAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCTGC AG		MOV10L1	ENSG00000073146.17	transcript	ENST00000262794.10	protein_coding	19/26					INFO_REALIGN_3_PRIME	chr22	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(521): Show TCTGCTCTCCCCTCCCCTCTTCCCTCCCCTCTCCCCTCCCCCTCCCCCCT CCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTC CCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCCGTC TCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCTCCCCTCCTCCCCTCCCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCCCTCCTCCCCTCCTCCC CTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCTTCCCCTCCTCCCCTCCT CCCCTCGTCCCCTCCCCTCCTCCCCTCGTCCCCTCCCCTCCTCCCCTCCT CCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCGT CCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0012 a0002c0004t0001g0012	1	140	0.0071	528	c.114 others(547): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCTTCCCTCCCC TCTCCCCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCT CTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCC CCTCCCGTCTCCCCTCCCGTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCCCCTCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCT CCCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCC CTCTTCCCCTCCTCCCCTCCTCCCCTCGTCCCCTCCCCTCCTCCCCTCGT CCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCC CTCCTCCCCTCCTCCCCTCGTCCCCTCCCCTCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCC CT		MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43					INFO_REALIGN_3_PRIME	chr8	TogoVar
MSLN_chr16_755734_773862	767614	T T	TGGGGGGC others(521): Show TGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTG GAGGAGGGGCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGCCG TGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGG GGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAG GAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGTGTGGAGGAGGGGCGCGT GGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGG GGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGC GTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCGTGGAGGAGGGG CGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGGGGGCGCGTGGAGGAG GAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGAGGGGCGCGT GGAGGGGGGAGCGTGGGGGGGGCGCATGG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	388	0.0026	528	c.159 others(545): Show c.1596+173_1596+174insGGGCCGTGTGGGGGGGCGTGGAGGAGGG GCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGCCGTGTGGGGG GGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGG AGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGCG CGTGGAGGGGGCCGTGTGGGGGGGTGTGGAGGAGGGGCGCGTGGAGGGGG GCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGCA CGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGA GGGGCGCGTGGAGGGGGGAGCGTGGGGGGCGTGGAGGAGGGGCGCGTGGA GGGGGCCGTGTGGGGGGGCGTGGAGGGGGGCGCGTGGAGGAGGAGGGGCG CATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGG GAGCGTGGGGGGGGCGCATGGGGGGGGCGTGGAGGAGGGGCGCGTGGAGG		MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr16	TogoVar
MTERF3_chr8_96234402_96266610	96250610	T T	TGAGGAGG others(521): Show TGAGGAGGAGGAGGAAGAAAGAAGAAGAAAAGAAGAAGGAGAAGAAGGAG AAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAGGAAGAGGAAGAAGAA GAAGAGGAAGAAGAGGAAGAGGAGGAAGAGGAAGAGGAAGAAGAAGAGGA AGAAGAAGAGGAAGAAGAAGAGGAAGAAGAAGAGGAGGAAGAAGAGGAGG AAGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAAGAGGAAGAGGA AGAGGAGGAAGAGGAAGAGGAGGAAGAGGAAGAGGAAGAAGAAGAAGAAG AGGAAGAGGAAGAGGAAGAGGAAGAGGAA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	294	0.0034	528	c.677 others(543): Show c.677+295_677+296insTTCCTCTTCCTCTTCCTCTTCCTCTTCCTC TTCTTCTTCTTCTTCCTCTTCCTCTTCCTCCTCTTCCTCTTCCTCCTCTT CCTCTTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTC CTCCTCTTCTTCCTCCTCTTCTTCTTCCTCTTCTTCTTCCTCTTCTTCTT CCTCTTCTTCTTCCTCTTCCTCTTCCTCCTCTTCCTCTTCTTCCTCTTCT TCTTCTTCCTCTTCCTCTTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTTC TCCTTCTTCTCCTTCTTCTTTTCTTCTTCTTTCTTCCTCCTCCTCCTC		MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7						chr8	TogoVar
MUC4_chr3_195741771_195816929	195783335	C C	CACCTGTG others(521): Show CACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCATGA CCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACC TGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGAGGTGGCGTGACGTG TGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTCACCTGTG GATGCTGAGGGAGTGTCGGTGACAGGTAGAGGGGTGGTGTGACCTGTAGA TGCTGAGGAAGGGCTGGTGACAGGAAGACGGGTGGTGTCACCTGTGGATA CTGACGAAGCGTCGGTGACAAGAAGAGGGGTGGTGTGACCTGTGGATACT GAGGAAGTGTCGGTGCCAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGA GGAAGTGCTGGTGACAGGAAGAGGGGTGGCATGACCTGTGGATGCCGAGG AAACGTCGGTGACAGGAAGACGGGTGGTGTCACCTGTGGAAGCTGAGGAA AAGCCGGTGACAGGAAGATGGGTGGCGTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03540.hp1 HG03540.hp1	a0097 a0097	a0097c0129 a0097c0129	a0097c0129t0002 a0097c0129t0002	a0097c0129t0002g0188 a0097c0129t0002g0188	1	249	0.0040	528	c.824 others(537): Show c.8244_8245insCACGCCACCCATCTTCCTGTCACCGGCTTTTCCTCA GCTTCCACAGGTGACACCACCCGTCTTCCTGTCACCGACGTTTCCTCGGC ATCCACAGGTCATGCCACCCCTCTTCCTGTCACCAGCACTTCCTCAGCAT CCACAGGTGACACCACCCCTCTTCCTGGCACCGACACTTCCTCAGTATCC ACAGGTCACACCACCCCTCTTCTTGTCACCGACGCTTCGTCAGTATCCAC AGGTGACACCACCCGTCTTCCTGTCACCAGCCCTTCCTCAGCATCTACAG GTCACACCACCCCTCTACCTGTCACCGACACTCCCTCAGCATCCACAGGT GACACCACCCCTCTTCCTGTCACCAATGCTTCCTCATTATCCACACGTCA CGCCACCTCTCTTCATGTCACCAGCCCTTCCTCAGCATCCACAGGTCACG CCACCCCTCTTCCTGTCACCGACACTTCCTCAGTATCCACAGGTCATGCC ACCCCTCTTCCTGTCACCAGCACTTCCTCAGCATCCACAGGT	p.Gly others(543): Show p.Gly2748_Asp2749insHisAlaThrHisLeuProValThrGlyPhe SerSerAlaSerThrGlyAspThrThrArgLeuProValThrAspValSe rSerAlaSerThrGlyHisAlaThrProLeuProValThrSerThrSerS erAlaSerThrGlyAspThrThrProLeuProGlyThrAspThrSerSer ValSerThrGlyHisThrThrProLeuLeuValThrAspAlaSerSerVa lSerThrGlyAspThrThrArgLeuProValThrSerProSerSerAlaS erThrGlyHisThrThrProLeuProValThrAspThrProSerAlaSer ThrGlyAspThrThrProLeuProValThrAsnAlaSerSerLeuSerTh rArgHisAlaThrSerLeuHisValThrSerProSerSerAlaSerThrG lyHisAlaThrProLeuProValThrAspThrSerSerValSerThrGly HisAlaThrProLeuProValThrSerThrSerSerAlaSerThrGly	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	8356/16756	8244/16239	2748/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195785890	G G	GCTGAGGA others(521): Show GCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCGTGTCCTGTGGATGC TGAGGAAGTGTCGGTGACAAGAAGAGGGGTGGCGTGACCTGTGGATGCTG AGGAAGGGCTGGTGACAGGAAGAGGGGTGGCCTGACCTGTGGATGCTGAG GAAGGGCTGGTGACATGAAGAGGGGTGGCGTGTCCTGTGGATGCTGAGGA AGTGTCGGTGACAGGAAGAGAGGTGGCGTGGCCTGTGGATACTGAGGAAG TGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGG CTGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATAATGAGGAAGCATC GGTGACATGAAGAGGGGTGGCGTGACCTGTGGATACTGAGGAAGCGTCGG TGACAAGAAGAGAGGTGGCGTGACCTGTAGATACTGAGGAAGTGTCGGTG ACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAAGGCTGGTGAC AGGAAGAGGGGTGGCATGACCTGTGGACA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02717.hp2 HG02717.hp2	a0055 a0055	a0055c0143 a0055c0143	a0055c0143t0001 a0055c0143t0001	a0055c0143t0001g0007 a0055c0143t0001g0007	1	249	0.0040	528	c.568 others(537): Show c.5689_5690insTGTCCACAGGTCATGCCACCCCTCTTCCTGTCACCA GCCTTTCCTCAGCATCCACAGGTCACGCCACCCCTCTTCCTGTCACCGAC ACTTCCTCAGTATCTACAGGTCACGCCACCTCTCTTCTTGTCACCGACGC TTCCTCAGTATCCACAGGTCACGCCACCCCTCTTCATGTCACCGATGCTT CCTCATTATCCACAGGTGACACCACCCCTCTTCCTGTCACCAGCCCTTCC TCAGCATCCACAGGTGACACCACCCCTCTTCCTGTCACCGACACTTCCTC AGTATCCACAGGCCACGCCACCTCTCTTCCTGTCACCGACACTTCCTCAG CATCCACAGGACACGCCACCCCTCTTCATGTCACCAGCCCTTCCTCAGCA TCCACAGGTCAGGCCACCCCTCTTCCTGTCACCAGCCCTTCCTCAGCATC CACAGGTCACGCCACCCCTCTTCTTGTCACCGACACTTCCTCAGCATCCA CAGGACACGCCACCCCTCTTCCTGTCACCAGCCTTTCCTCAG	p.Ser others(543): Show p.Ser1896_Ala1897insValSerThrGlyHisAlaThrProLeuPro ValThrSerLeuSerSerAlaSerThrGlyHisAlaThrProLeuProVa lThrAspThrSerSerValSerThrGlyHisAlaThrSerLeuLeuValT hrAspAlaSerSerValSerThrGlyHisAlaThrProLeuHisValThr AspAlaSerSerLeuSerThrGlyAspThrThrProLeuProValThrSe rProSerSerAlaSerThrGlyAspThrThrProLeuProValThrAspT hrSerSerValSerThrGlyHisAlaThrSerLeuProValThrAspThr SerSerAlaSerThrGlyHisAlaThrProLeuHisValThrSerProSe rSerAlaSerThrGlyGlnAlaThrProLeuProValThrSerProSerS erAlaSerThrGlyHisAlaThrProLeuLeuValThrAspThrSerSer AlaSerThrGlyHisAlaThrProLeuProValThrSerLeuSerSer	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	5801/16756	5689/16239	1897/5412			chr3	TogoVar
MUSK_chr9_110663791_110811558	110690701	T T	TATATATA others(521): Show TATATATATTTATATATAAGTATATATATATATATTTATATATAAGTATA TATATATATTTATATATAAGTATATATATATATTTATATATAAGTATATA TATAAATATATATATTTATATATAAGTATATATATATTTATATATAAGTA TATATATATTTATATATAAGTATATATAAATATATATATTTATATATAAG TGTATATATATAAATATATATATTTATATATAAGTATATATAAATATATA TATTTATATATAAGTATATATAAATATATATATTTATATATAAGTATATA TAAATATATATATTTATATATAAGTATATATAAATATATATATTTAAATA TAAGTATATATAAATATATATATTTAAATATAAGTATATATATAAATATA TATTTAAATATAAGTATATATAAATATATATTTAAATATAAGTATATATA TAAATATATATTTAAATATAAGTATATATATAAATATAAGTATATATATA AATATATATTTAAATATAAGTATATAGAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0108 a0001c0002t0003g0108	1	326	0.0031	528	c.358 others(545): Show c.358+3444_358+3445insTATATAAGTATATATATATATATTTATA TATAAGTATATATATATATTTATATATAAGTATATATATATATTTATATA TAAGTATATATATAAATATATATATTTATATATAAGTATATATATATTTA TATATAAGTATATATATATTTATATATAAGTATATATAAATATATATATT TATATATAAGTGTATATATATAAATATATATATTTATATATAAGTATATA TAAATATATATATTTATATATAAGTATATATAAATATATATATTTATATA TAAGTATATATAAATATATATATTTATATATAAGTATATATAAATATATA TATTTAAATATAAGTATATATAAATATATATATTTAAATATAAGTATATA TATAAATATATATTTAAATATAAGTATATATAAATATATATTTAAATATA AGTATATATATAAATATATATTTAAATATAAGTATATATATAAATATAAG TATATATATAAATATATATTTAAATATAAGTATATAGAAATATATATTTA		MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr9	TogoVar
MYT1_chr20_64159452_64247253	64233262	T T	TCCCCTTT others(521): Show TCCCCTTTCCCTCCTCCCCTCTTCCCTCCCTCTCTCTCCTCCCCCTCCCC TCTTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCC CTCCCCTCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCTCCCC TCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCC TCCCCTTCCTCTCCCCTCTCCCTCCCCTTCCTCTCCCCTCTCCCTTCCCT TTTGCCTCCTCTCCCCTCCCCTTCCCCTCCCCTCCTCTTCCCCTCCCCTC TCCTTCCCCTTTCCCTCCTCCCCTCTTCCCTCCCTCTCTCTCCTCCCCCT CCCCTCTTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTC TCCCTCCCCTTCCTCTCCCCTCTCCCTCC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03471.hp1 HG02922.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0020 a0001c0001t0003g0102 a0001c0001t0003g0020 a0001c0001t0003g0102	2	223	0.0090	528	c.289 others(545): Show c.2897+879_2897+880insCCTTTCCCTCCTCCCCTCTTCCCTCCCT CTCTCTCCTCCCCCTCCCCTCTTCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCC CCTTCCCCTCCCCTCTCCCTCCCCTTCCTCTCCCCTCTCCCTCCCCTTCC TCTCCCCTCTCCCTTCCCTTTTGCCTCCTCTCCCCTCCCCTTCCCCTCCC CTCCTCTTCCCCTCCCCTCTCCTTCCCCTTTCCCTCCTCCCCTCTTCCCT CCCTCTCTCTCCTCCCCCTCCCCTCTTCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCC CTTCCCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCC CTCCCCTTCCCCTCCCCTCTCCCTCCCCTTCCTCTCCCCTCTCCCTCCCC		MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	19/22					INFO_REALIGN_3_PRIME	chr20	TogoVar
NFATC1_chr18_79390930_79534323	79494279	C C	CGCCGGGG others(521): Show CGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTACGG CCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTGCGGCC GGGGGAAGGCGAGAACGGGCACACGCCCCCCATCAACCTGGTACCGCCGG GGGAAGGCGAGAGCGGGCACACGCCCCCCATCAACCTGGTGCGGCCGGGG GAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTACCGCCGGGGGA AGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTACGGCCGGGGGAAG GCAAGAGCGGGCACACGCCCCCCATGAACCTGGTGCGGCCGGGGGAAGGC GAGAGCGGGCACACGCCCCCCATGAACCTGGTGCGGCCGGGGGAAGGCGA GAGCGGGCACACGCCCCCCATCGACCTGGTACGGCCGGGGGAAGGCGAGA GCGGGCACACGCCCCCCATCGACCTGGTGCGGCCGGGGGAAGGCGAGAGC GGGCACACGCCCCCCATGAACCTGGTGCG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0004 a0001c0010t0004	a0001c0010t0004g0290 a0001c0010t0004g0290	1	322	0.0031	528	c.278 others(547): Show c.2782+7426_2782+7427insGAACCTGGTGCGGCCGGGGGAAGGCG AGAACGGGCACACGCCCCCCATCAACCTGGTACCGCCGGGGGAAGGCGAG AGCGGGCACACGCCCCCCATCAACCTGGTGCGGCCGGGGGAAGGCGAGAG CGGGCACACGCCCCCCATGAACCTGGTACCGCCGGGGGAAGGCGAGAGCG GGCACACGCCCCCCATGAACCTGGTACGGCCGGGGGAAGGCAAGAGCGGG CACACGCCCCCCATGAACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCA CACGCCCCCCATGAACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACA CGCCCCCCATCGACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACG CCCCCCATCGACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCC CCCCATGAACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCC CCATGAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCC AT		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NHLRC4_chr16_562005_574495	571108	T T	TGTGTGTG others(521): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTG TGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTG TGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTG TGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTG TGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTG CCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTA GCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTGT GTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGG CTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTG TGTGTGTGTGTCTGGCTAGCCTGGCACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	528	c.26 others(539): Show c.2689_*2690insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTG GCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTG GCTAGCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGT GTGTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAG CCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCC GTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCC TGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGC TAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTG TGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGC CCGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCC		NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding					1614		chr16	TogoVar
NMT2_chr10_15100770_15173693	15149442	C C	CCACCATC others(521): Show CCACCATCACATCATCACCACCATCATCACCATTATCATCACTGTCATCA CCACTACCATCGCCACTACCATCGCCATCACCATCACTGCCACCATCATT ATCACCATCATCACCACCACCATCACTACCCCATCATCGTCACCATCACC ATAATCACCACCACCACCACTGCCATCACCACCATCACCATTATCATCAC CACCATCACTACCCCATCATCGTCACCATCACCATAATCACCACCACCAC TGCCATCACCACCATCACCATCATCATCACCATCATTATCACCACCATCA TCACCATCATCACCACCATCATCACCACCATCATCATCATCACCACCATC ACCATCATCATCACCACCATCATCACCATCATTATCACCACCATGATCAC CATGATCACCACCATCATCACCATCATCATCACCATCATCATCACCATCA TCATCACCATCATCACCATCATCATCACCACCATTACCATCATCATCACC ACCATCATCATCACCATCATCACCACCAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0098 a0001c0001t0034g0098	1	276	0.0036	528	c.111 others(545): Show c.111-7886_111-7885insATGGTGGTGATGATGGTGATGATGATGG TGGTGATGATGATGGTAATGGTGGTGATGATGATGGTGATGATGGTGATG ATGATGGTGATGATGATGGTGATGATGATGGTGATGATGGTGGTGATCAT GGTGATCATGGTGGTGATAATGATGGTGATGATGGTGGTGATGATGATGG TGATGGTGGTGATGATGATGATGGTGGTGATGATGGTGGTGATGATGGTG ATGATGGTGGTGATAATGATGGTGATGATGATGGTGATGGTGGTGATGGC AGTGGTGGTGGTGATTATGGTGATGGTGACGATGATGGGGTAGTGATGGT GGTGATGATAATGGTGATGGTGGTGATGGCAGTGGTGGTGGTGGTGATTA TGGTGATGGTGACGATGATGGGGTAGTGATGGTGGTGGTGATGATGGTGA TAATGATGGTGGCAGTGATGGTGATGGCGATGGTAGTGGCGATGGTAGTG GTGATGACAGTGATGATAATGGTGATGATGGTGGTGATGATGTGATGGTG		NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	1/11						chr10	TogoVar
NOC4L_chr12_132139457_132157468	132148913	G G	GCTCACAC others(521): Show GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTC ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	294	0.0034	528	c.901 others(541): Show c.901+65_901+66insACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTC ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCAC TCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132148918	C C	CACCACAC others(521): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCCT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	294	0.0034	528	c.901 others(541): Show c.901+65_901+66insACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTC ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGC TCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149045	A A	ACTCCTAC others(521): Show ACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCCCTAATCCCC TCGGTGAGTGCGGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTG AGTGCGGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTC ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCA CACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCC TAATCCCCTCGGTGAGTGCGGCCGCCTCG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	294	0.0034	528	c.901 others(543): Show c.901+153_901+154insCTACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCAC TCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATAC CACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCCTACCACACC CCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCATACCACACCCCTAAT CCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTC GGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAG TGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTC GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149080	C C	CGCCGCCT others(521): Show CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATC CCCTCGGTGAGTGCGGCCGCCTCACTCACACCACACCCCTAATCCCCTCG GTGAGTGCGGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGT GCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCC GCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACA CCACACCCCTAATCCCCTCGGTGAGTGCG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0003 a0003	a0003c0043 a0003c0043	a0003c0043t0001 a0003c0043t0001	a0003c0043t0001g0253 a0003c0043t0001g0253	1	294	0.0034	528	c.901 others(543): Show c.901+193_901+194insGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCC TCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTC CTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCA CACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACACCACACCCC TAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACACCACACCCCTAATCC CCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGG TGAGTGCGGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTG CGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149446	C C	CACCACAC others(521): Show CACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCATACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGC CTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACT CCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCACTCCT	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	294	0.0034	528	c.901 others(543): Show c.901+580_901+581insGGCCGCCTCGCTCATACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCCTA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149485	G G	GCTCACAC others(521): Show GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTG AGTGCGGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCG GCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTC ACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACACCA CACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0117 a0003c0008t0001g0117	1	294	0.0034	528	c.901 others(543): Show c.901+624_901+625insGGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT GCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCA CTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAA TCCCCTCGGTGAGTGCGGCCGCCTCACTCACACCACACCCCTAATCCCCT CGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149740	G G	GGCCGCCT others(521): Show GGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACT CCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACC ACACCCCCAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTA CCACACCCCTAATCCCCTCGGTGAGTGCC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	294	0.0034	528	c.901 others(543): Show c.901+897_901+898insACTCCTACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCACTCACACCACACCCCCAATCCCCTCGGTGAGTGCCGCCGCC TCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTC ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar

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Search Results (Total: 10000 hits)